P18858
PR
Gene name |
LIG1 |
Protein name |
DNA ligase 1 |
Names |
DNA ligase I, Polydeoxyribonucleotide synthase [ATP] 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3978 |
EC number |
6.5.1.1: Forming phosphoric ester bonds |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
20 structures for P18858
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X9N | X-ray | 300 A | A | 233-919 | PDB |
| 5YY9 | X-ray | 265 A | C/D | 118-130 | PDB |
| 6P09 | X-ray | 205 A | A | 262-904 | PDB |
| 6P0A | X-ray | 205 A | A | 262-904 | PDB |
| 6P0B | X-ray | 220 A | A | 262-904 | PDB |
| 6P0C | X-ray | 155 A | A | 262-904 | PDB |
| 6P0D | X-ray | 175 A | A | 262-904 | PDB |
| 6P0E | X-ray | 185 A | A | 262-904 | PDB |
| 6Q1V | X-ray | 185 A | A | 262-904 | PDB |
| 7KR3 | X-ray | 278 A | A | 262-904 | PDB |
| 7KR4 | X-ray | 220 A | A | 262-904 | PDB |
| 7L34 | X-ray | 190 A | A | 262-906 | PDB |
| 7L35 | X-ray | 200 A | A | 262-906 | PDB |
| 7QNZ | EM | 458 A | A | 1-919 | PDB |
| 7QO1 | EM | 440 A | A | 161-919 | PDB |
| 7SUM | X-ray | 290 A | A | 261-918 | PDB |
| 7SX5 | X-ray | 280 A | A | 261-918 | PDB |
| 7SXE | X-ray | 300 A | A | 261-918 | PDB |
| 8B8T | EM | 420 A | A | 262-535 | PDB |
| AF-P18858-F1 | Predicted | AlphaFoldDB |
785 variants for P18858
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000909526 RCV002502721 CA9547417 rs41555118 |
47 | S>F | Immunodeficiency 96 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002547494 RCV001349375 CA9547005 rs751593877 |
351 | D>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA126872 VAR_002262 RCV001843457 rs121434560 |
566 | E>K | Variant assessed as Somatic; impact. Immunodeficiency 96 IMD96; loss of DNA ligase activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs34087182 CA9546643 VAR_087010 |
641 | R>L | IMD96; results in decreased repair response to DNA damage as shown by rescue assays in LIG1-deficient cells; severely reduced DNA ligase activity; 2-fold decrease of affinity for DNA; 5-fold increase of affiniy for Mg2+ [UniProt] | Yes |
ClinGen ESP ExAC TOPMed gnomAD UniProt |
|
RCV001843458 CA126875 RCV001851905 rs121434561 VAR_002263 |
771 | R>W | Immunodeficiency 96 IMD96; results in decreased repair response to DNA damage as shown by rescue assays in LIG1-deficient cells; severely reduced DNA ligase activity; 3-fold decrease of affinity for DNA; 4-fold increase of affiniy for Mg2+ [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA9547486 rs763492310 |
2 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9547487 rs765826500 |
2 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1281089379 CA406644320 |
3 | R>* | No |
ClinGen gnomAD |
|
|
rs201713810 CA406644318 |
3 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201713810 CA9547485 |
3 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9547484 rs567074372 |
5 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762111571 CA9547483 |
6 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1268909742 CA406643710 |
7 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9547460 rs760857985 |
9 | F>V | No |
ClinGen ExAC |
|
|
rs775642165 CA9547459 |
10 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA406643671 rs775642165 |
10 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9547457 rs143853302 |
11 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772179846 CA9547458 |
11 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9547455 rs769812430 |
12 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9547454 rs748118121 |
14 | E>A | No |
ClinGen ExAC |
|
|
rs1201081352 CA406643624 |
14 | E>Q | No |
ClinGen gnomAD |
|
|
CA9547452 rs768609123 |
15 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs79652062 CA309286266 |
17 | A>E | No |
ClinGen Ensembl |
|
|
CA309286267 rs955614510 |
17 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA309286256 rs773651278 |
18 | K>E | No |
ClinGen TOPMed |
|
|
rs371042043 CA9547449 |
21 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9547450 rs779627247 |
21 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141373006 CA9547448 |
24 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9547447 rs3730855 RCV000970367 VAR_018802 |
24 | A>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406643479 rs1438428740 |
25 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406643476 rs1438428740 |
25 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1474189310 CA406643438 |
28 | S>G | No |
ClinGen TOPMed |
|
|
rs757743358 CA9547446 |
31 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764437745 CA9547443 |
34 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 36 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767945879 CA9547420 |
37 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1051477260 CA309285346 |
39 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 40 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751867414 CA9547418 |
45 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309285314 rs1045583625 |
48 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406642976 rs1382334435 |
49 | S>I | No |
ClinGen gnomAD |
|
|
rs773435083 CA9547415 |
50 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs113944619 CA309285305 |
51 | S>C | No |
ClinGen TOPMed |
|
|
rs4987181 COSM712110 CA9547412 VAR_020194 |
52 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs185089911 CA406642958 |
52 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs185089911 CA9547413 |
52 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001313566 CA309285281 rs930594840 |
53 | V>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA9547410 rs143937703 |
54 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406642943 rs1478202640 |
55 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774048956 CA9547409 |
55 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547406 rs577711239 |
59 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309285256 rs369263086 |
60 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs971762136 COSM1213362 CA309285236 |
60 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs748738080 CA406642906 |
61 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748738080 CA9547404 |
61 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477748323 CA406642901 |
62 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs3730863 CA9547403 VAR_018803 |
62 | R>W | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA406642893 rs1599876587 |
63 | V>G | No |
ClinGen Ensembl |
|
|
CA9547401 rs751815142 |
67 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406642838 rs1355758505 |
71 | E>D | No |
ClinGen gnomAD |
|
|
rs1349522346 CA406642844 |
71 | E>K | No |
ClinGen TOPMed |
|
|
rs758728645 CA9547399 |
72 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_020195 CA309285184 rs4987070 |
72 | D>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA309285178 rs4987070 |
72 | D>V | No |
ClinGen Ensembl |
|
|
rs1398209674 CA406642828 |
73 | E>A | No |
ClinGen gnomAD |
|
|
CA9547398 rs375838718 |
74 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406642805 rs1466543922 |
76 | S>R | No |
ClinGen gnomAD |
|
|
CA406642801 rs1162954173 |
77 | P>H | No |
ClinGen gnomAD |
|
|
CA9547396 rs372836872 |
77 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9547395 rs775564408 |
79 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA406642791 rs1369310008 |
79 | K>T | No |
ClinGen gnomAD |
|
|
rs1189848628 CA406642775 |
81 | Q>L | No |
ClinGen gnomAD |
|
|
rs1241375278 CA406659280 |
83 | P>H | No |
ClinGen gnomAD |
|
|
CA406659262 rs1301904641 |
84 | A>S | No |
ClinGen gnomAD |
|
|
rs762561221 CA9547372 |
86 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs952948549 CA309315317 |
87 | C>G | No |
ClinGen Ensembl |
|
|
CA9547371 rs772981383 |
88 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs769168744 CA9547370 |
89 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs79897727 CA309315307 |
91 | S>P | No |
ClinGen TOPMed |
|
|
rs1027225095 CA309315302 |
92 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406659130 rs1159453174 |
92 | P>T | No |
ClinGen gnomAD |
|
|
CA9547368 rs139413667 |
94 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41549918 CA9547367 |
94 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747570569 CA9547366 |
95 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547364 rs544881855 |
96 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779139031 CA9547362 |
97 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9547361 rs369809477 |
99 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406659004 rs369809477 |
99 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369809477 CA9547360 |
99 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9547359 rs777736341 |
102 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754885583 CA9547358 |
103 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547357 rs751538734 |
104 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs751538734 CA406658908 |
104 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9547356 rs766156852 |
105 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9547355 rs762791139 |
106 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs142891099 CA9547353 |
109 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376771010 CA9547352 |
110 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA406658800 rs1427236673 |
111 | M>L | No |
ClinGen gnomAD |
|
|
rs373028526 CA9547351 |
111 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328863338 CA406658765 |
112 | D>E | No |
ClinGen TOPMed |
|
|
CA406658758 rs1474806290 |
113 | S>G | No |
ClinGen gnomAD |
|
|
CA406658749 rs1423668995 |
113 | S>I | No |
ClinGen gnomAD |
|
|
CA9547350 rs768325222 |
114 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs138870911 CA9547349 |
115 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406658718 rs1248667971 |
116 | S>* | No |
ClinGen gnomAD |
|
|
CA406658699 rs1203516824 |
118 | I>F | No |
ClinGen TOPMed |
|
|
rs12981963 CA9547345 |
119 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547346 rs12981963 |
119 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547342 rs573726688 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs377155700 CA9547341 |
121 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9547339 rs372022915 |
122 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368094694 CA9547338 |
122 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9547337 rs750191246 |
123 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA406658669 rs1166598278 |
124 | A>T | No |
ClinGen TOPMed |
|
|
rs766751568 CA9547302 |
125 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs904883813 CA309312478 |
125 | R>Q | No |
ClinGen gnomAD |
|
|
rs766751568 CA406658166 |
125 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1381263453 CA406658112 |
129 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406658098 rs1431883194 |
130 | K>R | No |
ClinGen gnomAD |
|
|
rs368320718 CA406658084 |
131 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368320718 CA9547297 |
131 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141907244 CA9547298 |
131 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406658066 rs1191911530 |
133 | I>V | No |
ClinGen gnomAD |
|
|
CA406658026 rs1489487112 |
136 | V>I | No |
ClinGen gnomAD |
|
|
rs1216102401 CA406658006 |
137 | L>R | No |
ClinGen gnomAD |
|
|
rs1178210778 CA406657998 |
138 | E>A | No |
ClinGen gnomAD |
|
|
rs768688182 CA406657990 |
139 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768688182 CA9547296 |
139 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1231791578 CA406657964 |
140 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406657954 rs1311602068 COSM1394997 |
141 | S>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA406657943 rs1274281795 |
141 | S>R | No |
ClinGen TOPMed |
|
|
rs745808926 CA9547295 |
141 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs778661516 CA9547294 |
143 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9547292 rs749052414 |
144 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749052414 CA406657912 |
144 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9547291 rs777733594 |
145 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA406657554 rs1300493595 |
147 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA406657556 rs1300493595 |
147 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9547289 rs752435755 |
148 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406657513 rs1377595901 |
150 | R>K | No |
ClinGen gnomAD |
|
|
CA406657496 rs1177393846 |
151 | K>R | No |
ClinGen gnomAD |
|
|
VAR_036511 CA9547288 rs780748107 COSM33486 |
152 | K>E | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs1193233420 CA406657468 |
153 | E>G | No |
ClinGen gnomAD |
|
|
rs754503757 CA9547286 |
154 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9547262 rs182781112 |
160 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309310726 rs560133595 |
162 | E>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 167 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406656195 rs1375382412 |
168 | E>K | No |
ClinGen gnomAD |
|
|
rs750998230 CA406656104 |
171 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547258 rs750998230 |
171 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765575720 CA9547257 |
172 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA406656039 rs1457547305 |
174 | E>K | No |
ClinGen gnomAD |
|
|
CA9547253 rs760974318 |
178 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458736352 CA406655909 |
179 | D>Y | No |
ClinGen gnomAD |
|
|
rs376033078 CA9547251 |
182 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9547248 rs769866355 |
183 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs564476088 CA406655799 |
183 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564476088 CA9547247 |
183 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA309310655 rs998892192 |
184 | P>L | No |
ClinGen Ensembl |
|
|
rs189960890 CA9547245 |
187 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1309216879 CA406655688 |
187 | P>H | No |
ClinGen gnomAD |
|
|
rs189960890 CA309310653 |
187 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406655658 rs1337629627 |
188 | L>R | No |
ClinGen gnomAD |
|
|
CA406655627 rs1391769800 |
189 | K>N | No |
ClinGen gnomAD |
|
|
CA406655642 rs1386276468 |
189 | K>T | No |
ClinGen gnomAD |
|
|
rs1599842330 CA406655624 |
190 | T>P | No |
ClinGen Ensembl |
|
|
CA9547241 rs745397628 |
191 | S>F | No |
ClinGen ExAC |
|
|
CA406655571 rs1417653954 |
192 | K>E | No |
ClinGen gnomAD |
|
|
rs766614907 CA9547208 |
192 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1340173232 CA406655341 |
193 | A>G | No |
ClinGen gnomAD |
|
|
rs761623501 CA9547207 |
193 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1279054547 CA406655303 COSM998885 CA406655305 |
194 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs377419114 CA9547204 |
196 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9547205 rs377419114 |
196 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9547206 rs753878725 |
196 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9547202 rs373413673 |
197 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406655241 rs1329339348 |
198 | E>K | No |
ClinGen TOPMed |
|
|
rs773822904 CA9547200 |
199 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773822904 CA406655200 |
199 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770498504 CA9547199 |
200 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1568531680 CA406655149 |
201 | S>L | No |
ClinGen Ensembl |
|
|
rs11879148 CA309309806 |
203 | P>L | No |
ClinGen Ensembl |
|
|
CA406655077 rs1476613113 |
206 | A>V | No |
ClinGen gnomAD |
|
|
CA9547196 rs778281872 |
207 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146614254 CA9547193 |
210 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755228890 CA9547192 |
212 | Q>* | No |
ClinGen ExAC |
|
|
rs751869703 CA9547191 |
215 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1339354827 CA406654917 |
216 | E>G | No |
ClinGen TOPMed |
|
|
rs780275052 CA9547190 |
217 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9547189 rs758448612 |
217 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1052758930 CA309309791 |
219 | K>E | No |
ClinGen TOPMed |
|
|
CA406654871 rs1376714735 |
220 | P>A | No |
ClinGen gnomAD |
|
|
COSM1394994 CA9547188 rs750475498 |
222 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9547186 rs1298186047 |
222 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1298186047 CA406654843 |
222 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406654818 rs1384960750 |
224 | A>V | No |
ClinGen gnomAD |
|
|
rs1253897409 CA406654815 |
225 | P>A | No |
ClinGen TOPMed |
|
|
rs764053461 CA9547185 |
225 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547184 rs760552864 |
227 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172098611 CA406654717 |
230 | S>I | No |
ClinGen gnomAD |
|
|
rs767343361 CA9547182 |
231 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406654708 rs1403185452 |
231 | F>I | No |
ClinGen gnomAD |
|
|
rs1163108817 CA406654679 |
232 | F>Y | No |
ClinGen gnomAD |
|
|
rs1275077668 CA406654567 |
233 | T>S | No |
ClinGen gnomAD |
|
|
CA9547155 rs777334641 |
234 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9547154 rs769291852 |
234 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA406654548 rs55686525 |
235 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309309516 rs1040186184 |
235 | R>Q | No |
ClinGen TOPMed |
|
|
CA9547152 rs55686525 |
235 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772316584 CA9547151 |
236 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161856529 CA406654515 |
237 | P>S | No |
ClinGen gnomAD |
|
|
CA309309504 rs889978321 |
238 | A>V | No |
ClinGen TOPMed |
|
|
rs746121161 CA9547150 |
240 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs757341594 CA9547148 |
244 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs781122161 CA309309484 |
246 | E>K | No |
ClinGen Ensembl |
|
|
CA9547147 rs749385366 |
247 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9547146 rs781038913 |
248 | P>S | No |
ClinGen ExAC gnomAD |
|
|
VAR_016766 rs3730911 CA9547145 |
249 | G>E | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA309309445 rs975611152 |
249 | G>R | No |
ClinGen gnomAD |
|
|
rs766133127 CA9547143 |
250 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA406653309 rs1311116009 |
251 | P>S | No |
ClinGen gnomAD |
|
|
rs1306708633 CA406653245 |
254 | E>K | No |
ClinGen TOPMed |
|
|
CA406653186 rs1599837109 |
256 | A>T | No |
ClinGen Ensembl |
|
|
CA9547142 rs571653746 |
257 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406653152 rs1224810211 |
257 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9547141 rs377631588 |
259 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406651044 rs1423000338 |
260 | P>L | No |
ClinGen gnomAD |
|
|
CA9547115 rs759755473 |
260 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309304831 rs759755473 |
260 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774807250 CA9547114 |
261 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9547113 rs180771242 |
265 | G>V | No |
ClinGen 1000Genomes ExAC |
|
|
VAR_016767 CA9547112 rs3730933 |
267 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406650884 rs1341120570 |
269 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201846395 CA9547111 |
269 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746951839 CA9547109 |
271 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs769928272 CA9547110 |
271 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA406650834 rs1359110587 |
272 | N>I | No |
ClinGen gnomAD |
|
|
CA9547108 rs367887927 |
273 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772050852 CA9547107 |
274 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406650790 rs1375308384 |
275 | P>A | No |
ClinGen gnomAD |
|
|
CA9547104 rs373988317 |
276 | V>L | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA9547103 rs373988317 |
276 | V>M | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA9547102 rs778901739 |
278 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA406650745 rs1235542752 |
278 | D>N | No |
ClinGen TOPMed |
|
|
CA406650731 rs1398966032 |
279 | A>T | No |
ClinGen gnomAD |
|
|
rs756939218 CA9547101 |
280 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 282 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9547100 rs574879811 |
283 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA406650684 rs574879811 |
283 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406650673 rs1165413790 |
285 | Q>P | No |
ClinGen gnomAD |
|
|
rs755631649 CA9547098 |
286 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA309304461 rs111846131 |
289 | Y>F | No |
ClinGen gnomAD |
|
|
rs1431002405 CA406650626 |
290 | L>P | No |
ClinGen gnomAD |
|
|
CA9547071 rs758703761 |
291 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA406650616 rs1241837069 |
292 | V>A | No |
ClinGen gnomAD |
|
|
CA309304433 rs372845440 |
292 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA9547070 rs528238142 |
293 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762145736 CA9547068 |
294 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9547069 rs765401609 |
294 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406650601 rs1203168552 |
295 | T>M | No |
ClinGen gnomAD |
|
|
CA406650596 rs1463059937 |
296 | F>S | No |
ClinGen TOPMed |
|
|
rs150960491 CA406650570 |
299 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216959388 CA406650565 |
300 | E>G | No |
ClinGen gnomAD |
|
|
rs1265266639 CA406650568 |
300 | E>Q | No |
ClinGen gnomAD |
|
|
rs759379686 COSM712112 CA9547065 |
301 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA309304339 rs964361107 |
302 | V>E | No |
ClinGen Ensembl |
|
|
CA406650550 rs964361107 |
302 | V>G | No |
ClinGen Ensembl |
|
|
CA309304333 rs1000596485 |
305 | R>Q | No |
ClinGen Ensembl |
|
|
CA9547062 rs771000990 |
305 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM998879 CA406650160 rs1449664966 |
307 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs746441226 CA9547032 |
307 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406650146 rs1290832186 |
308 | M>T | No |
ClinGen gnomAD |
|
|
rs779134053 CA9547031 |
311 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9547028 rs778018139 |
313 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1325628413 CA406650044 |
314 | N>S | No |
ClinGen TOPMed |
|
|
CA9547027 rs756430512 |
315 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs752805843 CA9547025 |
317 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406650006 rs767742230 |
317 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767742230 CA9547024 |
317 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA309299204 rs111507847 |
318 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA309299189 rs1054393447 |
319 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9547022 rs750430578 |
319 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765097221 CA9547021 |
321 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9547017 rs760367725 |
323 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1041487331 CA406649969 |
325 | P>A | No |
ClinGen gnomAD |
|
|
CA9547015 rs368085245 |
325 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1041487331 CA309299161 |
325 | P>T | No |
ClinGen gnomAD |
|
|
CA406649962 rs1599797984 |
326 | D>A | No |
ClinGen Ensembl |
|
|
rs1195706326 CA406649964 |
326 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 326 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406649940 rs1283838436 |
329 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406649941 rs1283838436 |
329 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406649945 rs1446182443 |
329 | P>T | No |
ClinGen Ensembl |
|
|
CA9547014 rs745397787 |
331 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA309299135 rs949815802 |
334 | S>N | No |
ClinGen Ensembl |
|
|
rs144552403 CA9547013 |
335 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9547012 rs771375863 |
336 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201228692 CA9547011 |
337 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382587405 CA406649878 |
339 | G>A | No |
ClinGen TOPMed |
|
|
CA406649866 rs1599797748 |
341 | P>L | No |
ClinGen Ensembl |
|
|
CA9547009 rs756370784 |
341 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA406649846 rs1287641149 |
344 | G>D | No |
ClinGen gnomAD |
|
|
CA406649820 rs1346300537 |
348 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs3730947 VAR_018804 CA9547006 COSM3756997 |
349 | V>M | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs751593877 CA406649804 |
351 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 353 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309299058 rs963029703 |
354 | L>F | No |
ClinGen TOPMed |
|
|
rs202150273 CA9547002 |
355 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9547000 rs760308186 |
357 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA309299036 rs764822642 |
360 | Q>* | No |
ClinGen Ensembl |
|
|
CA406649717 rs1301102657 |
363 | G>V | No |
ClinGen gnomAD |
|
|
rs766064327 CA406649715 |
364 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs766064327 CA9546954 |
364 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1038915656 CA309297129 |
364 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA406649713 rs1451005016 |
365 | Q>K | No |
ClinGen gnomAD |
|
|
CA406649696 rs1159613046 |
367 | E>G | No |
ClinGen TOPMed |
|
|
rs1409954502 CA406649687 |
368 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs3730966 CA9546950 VAR_018805 |
369 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9546948 rs768968095 |
370 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9546949 rs777105642 |
370 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293142741 CA406649678 |
371 | A>T | No |
ClinGen gnomAD |
|
|
rs761116054 CA9546947 |
373 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239820195 CA406649653 |
375 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1239820195 CA406649652 |
375 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs772372146 CA9546945 |
377 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA309297056 rs1043361486 |
378 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1216773994 CA406649623 |
379 | V>A | No |
ClinGen gnomAD |
|
|
CA9546942 rs769691846 |
379 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780947293 CA9546940 |
380 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406649605 rs1599789299 |
382 | V>G | No |
ClinGen Ensembl |
|
|
CA406649593 rs1480321343 |
384 | E>D | No |
ClinGen gnomAD |
|
|
rs530117495 CA9546938 |
384 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406649586 rs1599789209 |
385 | N>K | No |
ClinGen Ensembl |
|
|
rs748951611 CA9546937 |
385 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA406649588 rs748951611 |
385 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs758090395 CA9546936 |
386 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA406649583 rs1599789196 |
386 | S>R | No |
ClinGen Ensembl |
|
|
CA9546935 rs749929415 |
387 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546934 rs777331327 |
387 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406649574 rs777331327 |
387 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406649573 rs1205813340 |
388 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs138830398 CA9546933 |
389 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599789120 CA406649565 |
389 | T>P | No |
ClinGen Ensembl |
|
|
rs764667785 CA9546931 |
393 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs760909668 CA9546930 |
394 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9546928 rs772164976 |
395 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546927 rs759797286 |
397 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546926 rs774413070 |
398 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406649510 rs1403192883 |
398 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1403192883 CA406649509 |
398 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768667089 CA9546922 |
400 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406649481 rs1194439291 |
403 | G>E | No |
ClinGen gnomAD |
|
|
CA9546920 rs779946099 |
403 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599788873 CA406649473 |
404 | V>G | No |
ClinGen Ensembl |
|
|
CA406649466 CA9546918 rs750166352 |
405 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546917 rs201504571 |
409 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546916 VAR_016768 rs4987068 |
409 | R>H | no effect on DNA ligase activity [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs368941216 CA9546913 |
412 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148171804 CA9546912 |
413 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1380485003 CA406649394 |
416 | G>V | No |
ClinGen gnomAD |
|
|
CA9546910 rs767994822 |
418 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452699589 CA406649381 |
418 | A>V | No |
ClinGen gnomAD |
|
|
CA406649234 rs1169233153 |
422 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 423 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772167979 CA9546884 |
424 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143797790 CA9546885 RCV000903818 |
424 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760516163 CA9546886 |
424 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA406649196 rs1223060165 |
425 | D>H | No |
ClinGen gnomAD |
|
|
rs745611163 CA9546883 |
426 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA9546882 rs774338280 |
427 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9546881 rs770678108 |
429 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777137957 CA9546879 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA406649085 rs1305558472 |
433 | A>V | No |
ClinGen TOPMed |
|
|
rs1412104310 CA406649076 |
434 | C>S | No |
ClinGen gnomAD |
|
|
CA406649078 rs1412104310 |
434 | C>Y | No |
ClinGen gnomAD |
|
|
rs367665775 CA9546878 RCV001314545 |
435 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs367665775 CA406649069 |
435 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747612764 CA9546877 |
435 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755495489 CA9546875 |
437 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9546874 rs751897090 |
440 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406649006 rs1400140798 |
440 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9546872 rs758544091 |
442 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9546871 rs374979607 |
443 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251687366 CA406648855 |
445 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 446 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9546845 rs772907803 |
447 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546843 rs139908769 |
448 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768214568 CA9546841 |
449 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776117371 CA9546842 |
449 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746537204 CA9546840 |
451 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309295550 rs746537204 |
451 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250047086 CA406648783 |
452 | L>R | No |
ClinGen gnomAD |
|
|
rs867279426 CA406648774 |
453 | G>E | No |
ClinGen gnomAD |
|
|
rs867909257 CA406648779 |
453 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs867279426 CA309295525 |
453 | G>V | No |
ClinGen gnomAD |
|
|
rs867909257 CA309295539 |
453 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs772478773 CA9546838 |
457 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA406648695 rs1243913943 |
458 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 459 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375229583 CA309295499 |
462 | A>S | No |
ClinGen ESP TOPMed |
|
|
CA309295477 rs868471805 |
462 | A>V | No |
ClinGen Ensembl |
|
|
rs939735617 CA309295476 |
463 | L>F | No |
ClinGen TOPMed |
|
|
CA406648642 rs939735617 |
463 | L>V | No |
ClinGen TOPMed |
|
|
rs1372360733 CA406648602 |
466 | A>T | No |
ClinGen gnomAD |
|
|
CA406648556 rs1423467394 |
469 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372266709 CA9546833 |
470 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309295425 rs764996317 |
470 | T>S | No |
ClinGen Ensembl |
|
|
rs1214898617 CA406648532 |
471 | P>H | No |
ClinGen TOPMed |
|
|
rs368075807 CA9546830 |
472 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368075807 CA9546831 |
472 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs533897830 CA9546827 |
473 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778098057 CA9546815 |
475 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV001297338 rs2034341659 |
476 | F>I | No |
ClinVar dbSNP |
|
|
CA9546814 rs756422323 |
476 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA9546812 rs781173278 |
477 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748220595 CA9546813 |
477 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406648420 rs1324587858 |
479 | A>G | No |
ClinGen TOPMed |
|
|
rs368895531 CA406648412 CA309295053 |
480 | M>I | No |
ClinGen ESP gnomAD |
|
|
rs1380036216 CA406648416 |
480 | M>R | No |
ClinGen gnomAD |
|
|
rs3730980 VAR_016769 CA9546811 |
480 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 481 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403410829 CA406648392 |
483 | A>V | No |
ClinGen gnomAD |
|
|
rs576097809 CA9546810 |
487 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9546809 rs112555243 |
487 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406648360 rs1378720321 |
488 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406648348 rs1201569677 |
490 | E>V | No |
ClinGen gnomAD |
|
|
CA406648345 rs1218996619 |
491 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA406648325 rs1427244954 |
493 | K>N | No |
ClinGen gnomAD |
|
|
CA9546808 rs150334649 |
494 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406648307 rs1426721145 |
496 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA406648306 rs1426721145 |
496 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs74929288 CA9546805 |
497 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs74929288 CA9546806 |
497 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9546804 rs775060600 |
498 | E>G | No |
ClinGen ExAC |
|
|
rs766992924 CA9546803 |
500 | G>S | No |
ClinGen ExAC |
|
|
rs1266704708 CA406648273 |
501 | M>I | No |
ClinGen TOPMed |
|
|
CA9546790 rs753599335 |
509 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406647679 rs753599335 |
509 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309293703 rs969566984 |
509 | E>V | No |
ClinGen TOPMed |
|
|
CA309293696 rs1017132978 |
510 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406647650 rs1222930531 |
511 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406647647 rs1179432180 |
512 | D>N | No |
ClinGen gnomAD |
|
|
rs1207275566 CA406647625 |
513 | L>P | No |
ClinGen gnomAD |
|
|
CA309293658 rs974070054 |
514 | D>Y | No |
ClinGen TOPMed |
|
|
CA309293650 rs887371706 |
515 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA406647603 rs1228371281 |
515 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201483928 CA9546786 |
519 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201483928 CA309293644 |
519 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406647541 rs1226949098 |
521 | L>V | No |
ClinGen gnomAD |
|
|
CA406647516 rs1350194141 |
523 | H>N | No |
ClinGen gnomAD |
|
|
CA9546784 rs141215260 RCV001341015 |
524 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406647494 rs1416230788 |
526 | E>A | No |
ClinGen gnomAD |
|
|
rs763599540 CA9546782 |
526 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1157140574 CA406647489 |
527 | R>C | No |
ClinGen gnomAD |
|
|
CA9546781 rs773710949 |
527 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_087009 CA9546778 rs776651223 |
529 | P>L | Variant assessed as Somatic; 0.0 impact. no effect on DNA ligase activity [NCI-TCGA, UniProt] | No |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA9546779 rs762254049 |
529 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762254049 CA309293587 |
529 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406647469 rs945928573 |
530 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406647465 rs1452769399 |
531 | H>Y | No |
ClinGen gnomAD |
|
|
rs913159474 CA309293553 |
533 | K>T | No |
ClinGen Ensembl |
|
|
rs770850094 CA9546774 |
535 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1176932478 CA406647397 |
539 | P>L | No |
ClinGen TOPMed |
|
|
CA9546761 rs777077640 |
539 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9546760 rs768739140 |
543 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255809737 CA406647376 |
543 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9546759 rs199848958 |
545 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309292784 rs1014424629 |
546 | H>Y | No |
ClinGen TOPMed |
|
|
rs745950562 CA9546756 |
549 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745950562 CA9546757 |
549 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309292783 rs200550314 |
549 | R>W | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9546755 rs773090408 |
550 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1006063412 CA309292765 |
552 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1303265810 CA406647320 |
552 | S>I | No |
ClinGen gnomAD |
|
|
CA9546752 rs781077292 |
555 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372831646 CA9546751 |
557 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746737248 CA9546750 COSM998873 |
557 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA406647287 rs1162053128 |
558 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1162053128 CA406647286 |
558 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9546749 rs779867943 |
560 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA406647271 rs1224171596 |
560 | E>K | No |
ClinGen TOPMed |
|
|
CA406647250 rs1568497782 |
563 | F>V | No |
ClinGen Ensembl |
|
|
CA406647239 rs1182835730 |
564 | T>I | No |
ClinGen gnomAD |
|
|
CA406647234 rs1250265584 |
565 | C>Y | No |
ClinGen gnomAD |
|
|
rs757832957 CA9546745 |
569 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1256460 rs1242672789 CA406647192 |
571 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9546743 rs764577674 |
572 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA406646810 rs538601239 |
578 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9546713 rs538601239 |
578 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375683198 CA406646812 |
578 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375683198 CA9546714 |
578 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs538601239 CA406646809 |
578 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599767626 CA406646804 |
579 | L>R | No |
ClinGen Ensembl |
|
|
CA9546709 rs770405693 |
582 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs778444428 CA9546710 |
582 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406646777 rs778290094 |
584 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9546707 rs778290094 |
584 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1364050796 CA406646752 |
587 | F>Y | No |
ClinGen gnomAD |
|
|
rs1190090780 CA406646746 |
588 | S>N | No |
ClinGen TOPMed |
|
|
rs756660625 CA9546706 |
591 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA309290932 rs372012522 |
595 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1027680028 CA309290916 |
596 | G>A | No |
ClinGen TOPMed |
|
|
rs1599767456 CA406646674 |
598 | Y>S | No |
ClinGen Ensembl |
|
|
CA9546705 rs753024168 |
599 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406646665 rs753024168 |
599 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA309290910 rs994795985 |
600 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9546703 rs755183059 |
602 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs755183059 CA406646647 |
602 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1568494254 CA406646639 |
603 | S>I | No |
ClinGen Ensembl |
|
|
rs570025325 CA9546702 |
604 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766516122 CA9546701 |
604 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546700 rs763051754 |
606 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1448952280 CA406646612 |
606 | P>T | No |
ClinGen gnomAD |
|
|
CA9546698 rs764071994 |
607 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777084614 CA9546666 |
610 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs780324684 CA9546663 |
612 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780324684 CA9546664 COSM32368 VAR_036512 |
612 | S>L | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs780324684 CA406645356 |
612 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546661 VAR_016770 rs3731003 |
614 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1288502852 CA406645305 |
616 | F>V | No |
ClinGen gnomAD |
|
|
CA406645289 rs1292709038 |
617 | I>V | No |
ClinGen Ensembl |
|
|
rs1210106066 CA406645271 |
618 | L>V | No |
ClinGen gnomAD |
|
|
rs1336488265 CA406645260 |
619 | D>H | No |
ClinGen gnomAD |
|
|
CA309288531 rs985310418 |
620 | T>S | No |
ClinGen Ensembl |
|
|
CA9546658 rs753986830 |
622 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754908493 CA9546656 |
623 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444485496 CA406645169 |
625 | W>R | No |
ClinGen gnomAD |
|
|
rs751361484 CA9546655 |
625 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546799751 CA9546652 |
627 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9546653 rs762816837 |
627 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764903615 CA9546651 |
629 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410302716 CA406645135 |
630 | K>Q | No |
ClinGen gnomAD |
|
|
rs761267136 CA9546650 |
630 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546649 rs776170778 |
631 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546648 rs769120678 |
632 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1198936522 CA406645085 |
637 | V>M | No |
ClinGen gnomAD |
|
|
CA9546646 rs201804541 |
639 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772257137 CA9546645 |
640 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746273257 CA9546644 |
641 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs34087182 CA406645061 |
641 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757601186 CA9546642 |
643 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266481284 CA406645049 |
643 | R>H | No |
ClinGen TOPMed |
|
|
rs1243160030 CA406645042 |
644 | K>R | No |
ClinGen gnomAD |
|
|
rs56105837 CA9546614 |
647 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9546613 rs151010868 |
648 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763838510 CA9546611 |
650 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs760052419 CA9546610 |
652 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406644971 rs1285150505 |
653 | V>L | No |
ClinGen TOPMed |
|
|
rs1285150505 CA406644973 |
653 | V>M | No |
ClinGen TOPMed |
|
|
rs767878829 CA9546607 |
659 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753568865 CA309287697 |
661 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1416611142 CA406644903 |
663 | I>V | No |
ClinGen gnomAD |
|
|
rs1355994186 CA406644893 |
664 | Y>C | No |
ClinGen gnomAD |
|
|
CA406644896 rs1442879710 |
664 | Y>H | No |
ClinGen gnomAD |
|
|
CA9546604 rs528501965 |
666 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1050179679 CA309287651 |
668 | E>G | No |
ClinGen Ensembl |
|
|
CA9546581 rs55950593 |
672 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001347271 rs200049505 CA9546580 |
672 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA406643343 rs200049505 |
672 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs55950593 CA406643356 |
672 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9546579 rs768664854 |
674 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9546578 rs747098797 |
675 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774233229 CA9546577 |
676 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV000970366 rs3731008 VAR_018806 CA9546575 |
677 | R>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs3731008 CA406643292 |
677 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9546576 rs770901517 |
677 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371317271 CA406643291 |
678 | R>C | No |
ClinGen gnomAD |
|
|
CA9546574 rs777689854 |
678 | R>H | Variant assessed as Somatic; 4.661e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406643284 rs747774796 |
679 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747774796 CA9546572 |
679 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531348489 CA9546573 |
679 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9546571 rs568934454 |
680 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353026647 CA406643279 |
680 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759018012 CA9546568 |
683 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs759018012 CA9546567 |
683 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9546569 rs751139851 |
683 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406643257 COSM998867 rs1336908100 |
684 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs750752539 CA9546566 |
685 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9546565 rs549131231 RCV001309703 |
685 | N>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA406643252 rs1224215156 |
685 | N>S | No |
ClinGen gnomAD |
|
|
rs762097925 CA9546564 |
686 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA406643245 rs1195779934 |
686 | F>S | No |
ClinGen gnomAD |
|
|
rs1260849650 CA406643240 |
687 | V>L | No |
ClinGen gnomAD |
|
|
rs1599745490 RCV000791137 CA406643222 |
690 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776848611 CA9546563 |
691 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760719822 CA9546561 |
692 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1599745457 CA406643200 |
693 | F>V | No |
ClinGen Ensembl |
|
|
rs969486790 CA309281061 |
694 | V>A | No |
ClinGen Ensembl |
|
|
CA9546558 rs373324917 |
696 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 696 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599745392 CA406643174 |
697 | T>P | No |
ClinGen Ensembl |
|
|
rs747923235 CA9546555 |
700 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780941248 CA9546554 |
702 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377540560 CA9546552 |
704 | I>F | No |
ClinGen ESP ExAC |
|
|
rs140821248 CA9546549 |
705 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140821248 CA9546550 |
705 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1372655505 CA406643110 |
707 | I>V | No |
ClinGen gnomAD |
|
|
COSM998865 CA9546547 rs140087554 |
708 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA406643099 rs764267948 |
709 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546545 rs764267948 |
709 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546544 rs760954030 |
711 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA309281058 rs868452926 |
715 | V>M | No |
ClinGen Ensembl |
|
|
CA309281057 rs201550323 |
716 | K>E | No |
ClinGen 1000Genomes |
|
|
CA9546519 rs373086292 |
717 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775243923 CA9546517 |
718 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9546516 rs775243923 |
718 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA406642710 rs1397114775 |
720 | E>D | No |
ClinGen TOPMed |
|
|
CA9546514 rs745363891 |
720 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778352522 CA9546513 |
721 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9546512 rs771454283 |
723 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1222628787 CA406642688 |
724 | V>L | No |
ClinGen gnomAD |
|
|
rs369986976 CA9546511 |
728 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9546510 rs778253828 |
729 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309281042 rs914048812 |
732 | T>I | No |
ClinGen TOPMed |
|
|
rs1568481858 CA633575622 |
733 | Y>* | No |
ClinGen Ensembl |
|
|
rs1350372683 CA406642626 |
734 | E>K | No |
ClinGen TOPMed |
|
|
CA309281041 rs755197772 |
736 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546506 rs755197772 |
736 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309281040 rs199651528 |
737 | K>E | No |
ClinGen Ensembl |
|
|
CA406642604 rs1568481831 |
737 | K>R | No |
ClinGen Ensembl |
|
|
rs751658356 CA309281039 |
739 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546505 rs751658356 |
739 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309281038 rs758206171 |
740 | H>P | No |
ClinGen Ensembl |
|
|
rs1159828605 CA406642576 |
741 | N>K | No |
ClinGen gnomAD |
|
|
CA9546502 rs753762673 |
741 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400059881 CA406642580 |
741 | N>Y | No |
ClinGen gnomAD |
|
|
CA309280815 rs1040293485 |
745 | L>V | No |
ClinGen TOPMed |
|
|
rs1352418234 CA406642524 |
747 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1410149594 CA406642503 |
750 | L>V | No |
ClinGen gnomAD |
|
|
RCV001297206 rs2033254015 |
751 | D>A | No |
ClinVar dbSNP |
|
|
rs762424416 CA9546476 |
751 | D>H | No |
ClinGen ExAC gnomAD |
|
|
VAR_087011 rs146309259 CA9546474 RCV000952782 |
753 | V>M | no effect on DNA ligase activity [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA406642480 rs1457899817 |
754 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1199390744 CA406642422 |
763 | G>S | No |
ClinGen TOPMed |
|
|
COSM191456 CA9546470 rs368406296 |
764 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371393033 CA406642393 |
768 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9546465 rs372444236 |
768 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9546466 rs372444236 |
768 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9546464 rs372444236 |
768 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371393033 CA9546467 |
768 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1416517113 CA406642389 |
769 | G>E | No |
ClinGen gnomAD |
|
|
rs1297099305 CA406642386 |
770 | K>E | No |
ClinGen gnomAD |
|
|
CA406642380 rs1462192619 |
770 | K>N | No |
ClinGen gnomAD |
|
|
CA406642383 rs1302433622 |
770 | K>R | No |
ClinGen TOPMed |
|
|
rs1173320241 CA406642377 |
771 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 773 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751418904 CA9546462 |
773 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9546460 rs201362120 |
774 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9546461 rs201073563 |
774 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176633059 CA406642351 |
776 | G>R | No |
ClinGen gnomAD |
|
|
rs761317989 CA9546458 |
777 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs761317989 COSM998861 CA9546457 |
777 | G>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9546455 rs571123414 |
782 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546454 rs760928313 |
783 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772420721 CA406642306 |
784 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs772420721 CA9546452 |
784 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1375109431 CA406642296 |
785 | E>G | No |
ClinGen gnomAD |
|
|
CA9546451 COSM1213359 rs746026463 |
785 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs548077697 CA9546449 |
787 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1568478497 CA406642280 |
787 | S>R | No |
ClinGen Ensembl |
|
|
rs548077697 CA9546450 |
787 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406642254 rs1394295086 |
791 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749404060 CA9546448 |
793 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs201184227 CA309280573 |
798 | T>S | No |
ClinGen 1000Genomes |
|
|
rs1434136075 CA406642149 |
799 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1207089886 CA406642129 |
802 | D>N | No |
ClinGen TOPMed |
|
|
CA9546422 rs371768197 |
803 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309280572 rs371768197 |
803 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406642110 rs1460655569 |
804 | E>D | No |
ClinGen gnomAD |
|
|
rs753286590 CA9546421 |
806 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs763721092 CA9546420 |
807 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1599733192 CA406642079 |
809 | H>P | No |
ClinGen Ensembl |
|
|
CA406642062 rs755582294 |
811 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9546419 rs755582294 |
811 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1387561868 CA406642053 |
813 | K>Q | No |
ClinGen TOPMed |
|
|
rs753212509 CA9546418 |
813 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052689350 CA309280403 |
814 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766706558 CA9546396 |
816 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452728442 CA406641992 |
821 | R>C | No |
ClinGen gnomAD |
|
|
rs542028224 CA9546394 |
821 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406641990 rs542028224 |
821 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs948158078 CA309280402 |
822 | P>R | No |
ClinGen Ensembl |
|
|
rs1349395135 CA406641987 |
822 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750315980 CA406641975 |
824 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546391 rs750315980 |
824 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302418104 CA406641970 |
825 | R>Q | No |
ClinGen gnomAD |
|
|
CA9546389 rs759531392 |
825 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA309280401 rs909704858 |
827 | D>A | No |
ClinGen Ensembl |
|
|
CA406641959 rs1321074571 |
827 | D>H | No |
ClinGen TOPMed |
|
|
CA9546387 rs770718097 |
829 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1199663927 CA406641935 |
831 | I>V | No |
ClinGen TOPMed |
|
|
rs1279189675 CA406641924 |
832 | P>L | No |
ClinGen TOPMed |
|
|
CA9546383 rs747656528 |
833 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546384 rs747656528 |
833 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747656528 CA406641923 |
833 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406641890 rs1159877105 |
837 | D>G | No |
ClinGen gnomAD |
|
|
CA406641882 rs1394064037 |
838 | P>L | No |
ClinGen gnomAD |
|
|
CA309280399 rs11668325 |
839 | S>N | No |
ClinGen Ensembl |
|
|
CA309280398 CA406641876 rs761804615 |
839 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406641881 rs1477206747 |
839 | S>R | No |
ClinGen TOPMed |
|
|
rs780457620 CA9546379 |
840 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406641871 rs1248785469 |
840 | A>V | No |
ClinGen gnomAD |
|
|
CA9546378 rs370645196 |
841 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406641859 rs1336853591 |
842 | W>* | No |
ClinGen gnomAD |
|
|
rs1599728906 CA406641843 |
844 | V>G | No |
ClinGen Ensembl |
|
|
rs145821638 CA9546376 CA406641836 |
845 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764106045 CA9546374 |
847 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764106045 CA9546373 |
847 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406641815 rs1369548258 |
849 | L>I | No |
ClinGen gnomAD |
|
|
CA406641804 rs1268184254 |
850 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1429959243 CA406641801 |
851 | L>F | No |
ClinGen gnomAD |
|
|
CA406641802 rs1429959243 |
851 | L>V | No |
ClinGen gnomAD |
|
|
CA309280397 rs763921969 |
852 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9546371 rs763921969 |
852 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA406641785 rs1432273754 |
854 | I>F | No |
ClinGen gnomAD |
|
|
rs770818176 COSM439887 CA406641781 |
854 | I>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA406641783 rs1212731777 |
854 | I>T | No |
ClinGen TOPMed |
|
|
rs1158052862 CA406641768 |
856 | P>R | No |
ClinGen gnomAD |
|
|
rs1415813897 CA406641763 |
857 | A>D | No |
ClinGen gnomAD |
|
|
rs968906253 CA309280395 |
857 | A>P | No |
ClinGen gnomAD |
|
|
CA406641766 rs968906253 |
857 | A>T | No |
ClinGen gnomAD |
|
|
rs1415813897 CA406641762 |
857 | A>V | No |
ClinGen gnomAD |
|
|
CA9546369 rs546126921 |
858 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772946340 CA9546368 |
858 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546364 rs760323184 |
859 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546365 rs760323184 |
859 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747743680 COSM1734850 CA9546366 |
859 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9546363 rs746525445 |
860 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs898652788 CA309280192 |
862 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406641723 rs750286209 |
863 | D>E | No |
ClinGen ExAC |
|
|
CA309280191 rs1037193058 |
863 | D>G | No |
ClinGen gnomAD |
|
|
rs1265908503 CA406641720 |
864 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 864 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406641713 rs1401333056 |
865 | D>N | No |
ClinGen gnomAD |
|
|
rs1401333056 CA406641711 |
865 | D>Y | No |
ClinGen gnomAD |
|
|
rs1307882750 CA406641670 |
871 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs765288678 CA9546331 |
871 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761679526 CA9546330 |
873 | P>A | No |
ClinGen ExAC |
|
|
rs776608940 CA9546329 |
874 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763835099 CA9546328 |
876 | I>F | No |
ClinGen ExAC TOPMed |
|
|
COSM275855 rs760305891 CA9546327 |
877 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA9546326 rs775226298 |
877 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309280190 rs775226298 |
877 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406641631 rs1455193489 |
878 | V>D | No |
ClinGen TOPMed |
|
|
rs1051793362 CA309280189 |
879 | R>C | No |
ClinGen gnomAD |
|
|
rs771419079 CA9546325 |
879 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406641616 rs1459891306 |
881 | D>N | No |
ClinGen gnomAD |
|
|
rs745417422 CA9546324 |
882 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA406641597 rs1440552959 |
883 | Q>R | No |
ClinGen gnomAD |
|
|
CA9546322 COSM998857 rs201176712 |
884 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs778165966 CA9546320 |
885 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546319 rs756514492 |
888 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748252507 CA9546318 |
889 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9546317 rs781506154 |
889 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA406641558 rs1600296428 |
890 | S>R | No |
ClinGen Ensembl |
|
|
CA406641550 rs1600296385 |
891 | A>T | No |
ClinGen Ensembl |
|
|
rs11666150 CA309280188 |
892 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777800230 CA9546294 |
894 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1422622794 CA406641508 |
895 | C>W | No |
ClinGen gnomAD |
|
|
rs1171383282 CA406641503 |
896 | L>S | No |
ClinGen gnomAD |
|
|
CA406641494 rs1478756435 |
897 | Y>F | No |
ClinGen gnomAD |
|
|
rs752573864 CA9546292 |
898 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9546293 rs201890024 |
898 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546289 rs751222365 |
901 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs765808617 CA9546288 |
902 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1282533743 CA406641433 |
906 | Q>* | No |
ClinGen gnomAD |
|
|
CA406641421 rs1447084356 |
907 | Q>H | No |
ClinGen TOPMed |
|
|
CA406641427 rs1260430121 |
907 | Q>K | No |
ClinGen TOPMed |
|
|
rs140376045 CA9546284 |
908 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9546281 rs144236881 |
909 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309280176 rs200688124 |
910 | D>V | No |
ClinGen Ensembl |
|
|
CA406641384 rs1399351101 |
913 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA406641388 rs1254992578 |
913 | S>P | No |
ClinGen TOPMed |
|
|
CA406641378 rs1331718830 |
914 | D>G | No |
ClinGen gnomAD |
|
|
CA406641362 rs1600294599 |
916 | E>D | No |
ClinGen Ensembl |
|
|
rs1162150385 CA406641367 |
916 | E>K | No |
ClinGen gnomAD |
|
|
rs1165342678 CA406641356 |
917 | D>G | No |
ClinGen TOPMed |
|
|
rs201639894 CA309280175 |
917 | D>Y | No |
ClinGen 1000Genomes |
|
|
rs1472868108 CA406641350 |
918 | T>N | No |
ClinGen gnomAD |
|
|
rs61752349 CA309280174 |
918 | T>P | No |
ClinGen Ensembl |
|
|
rs1369660082 CA406641344 |
919 | Y>C | No |
ClinGen gnomAD |
1 associated diseases with P18858
[MIM: 619774]: Immunodeficiency 96 (IMD96)
An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. {ECO:0000269|PubMed:1581963, ECO:0000269|PubMed:30395541}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. {ECO:0000269|PubMed:1581963, ECO:0000269|PubMed:30395541}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P18858
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | DNA ligase, ATP-dependent, N-terminal | 289 - 463 | IPR012308 |
| domain | DNA ligase, ATP-dependent, C-terminal | 771 - 882 | IPR012309 |
| domain | DNA ligase, ATP-dependent, central | 542 - 784 | IPR012310 |
| conserved_site | DNA ligase, ATP-dependent, conserved site | 566 - 574 | IPR016059-1 |
| conserved_site | DNA ligase, ATP-dependent, conserved site | 720 - 746 | IPR016059-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.5.1.1 | Forming phosphoric ester bonds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA ligase (ATP) activity | Catalysis of the reaction: ATP + deoxyribonucleotide(n) + deoxyribonucleotide(m) = AMP + diphosphate + deoxyribonucleotide(n+m). |
| DNA ligase activity | Catalysis of the formation of a phosphodiester bond between the 3'-hydroxyl group at the end of one DNA chain and the 5'-phosphate group at the end of another. This reaction requires an energy source such as ATP or NAD+. |
| metal ion binding | Binding to a metal ion. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
| base-excision repair | In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
| base-excision repair, gap-filling | Repair of the damaged strand by the combined action of an apurinic endouclease that degrades a few bases on the damaged strand and a polymerase that synthesizes a 'patch' in the 5' to 3' direction, using the undamaged strand as a template. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| DNA biosynthetic process | The biosynthetic process resulting in the formation of DNA. |
| DNA ligation | The re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase. |
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| lagging strand elongation | The process in which an existing DNA strand is extended in a net 3' to 5' direction by activities including the addition of nucleotides to the 3' end of the strand, complementary to an existing template, as part of DNA replication. Lagging strand DNA elongation proceeds by discontinuous synthesis of short stretches of DNA, known as Okazaki fragments, from RNA primers; these fragments are then joined by DNA ligase. Although each segment of nascent DNA is synthesized in the 5' to 3' direction, the overall direction of lagging strand synthesis is 3' to 5', mirroring the progress of the replication fork. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| Okazaki fragment processing involved in mitotic DNA replication | Any DNA replication, Okazaki fragment processing that is involved in mitotic cell cycle DNA replication. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P04819 | CDC9 | DNA ligase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9W1H4 | DNAlig1 | DNA ligase 1 | Drosophila melanogaster (Fruit fly) | PR |
| P37913 | Lig1 | DNA ligase 1 | Mus musculus (Mouse) | PR |
| Q9JHY8 | Lig1 | DNA ligase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQRSIMSFFH | PKKEGKAKKP | EKEASNSSRE | TEPPPKAALK | EWNGVVSESD | SPVKRPGRKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARVLGSEGEE | EDEALSPAKG | QKPALDCSQV | SPPRPATSPE | NNASLSDTSP | MDSSPSGIPK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRTARKQLPK | RTIQEVLEEQ | SEDEDREAKR | KKEEEEEETP | KESLTEAEVA | TEKEGEDGDQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PTTPPKPLKT | SKAETPTESV | SEPEVATKQE | LQEEEEQTKP | PRRAPKTLSS | FFTPRKPAVK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KEVKEEEPGA | PGKEGAAEGP | LDPSGYNPAK | NNYHPVEDAC | WKPGQKVPYL | AVARTFEKIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVSARLRMVE | TLSNLLRSVV | ALSPPDLLPV | LYLSLNHLGP | PQQGLELGVG | DGVLLKAVAQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ATGRQLESVR | AEAAEKGDVG | LVAENSRSTQ | RLMLPPPPLT | ASGVFSKFRD | IARLTGSAST |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AKKIDIIKGL | FVACRHSEAR | FIARSLSGRL | RLGLAEQSVL | AALSQAVSLT | PPGQEFPPAM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VDAGKGKTAE | ARKTWLEEQG | MILKQTFCEV | PDLDRIIPVL | LEHGLERLPE | HCKLSPGIPL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KPMLAHPTRG | ISEVLKRFEE | AAFTCEYKYD | GQRAQIHALE | GGEVKIFSRN | QEDNTGKYPD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IISRIPKIKL | PSVTSFILDT | EAVAWDREKK | QIQPFQVLTT | RKRKEVDASE | IQVQVCLYAF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DLIYLNGESL | VREPLSRRRQ | LLRENFVETE | GEFVFATSLD | TKDIEQIAEF | LEQSVKDSCE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GLMVKTLDVD | ATYEIAKRSH | NWLKLKKDYL | DGVGDTLDLV | VIGAYLGRGK | RAGRYGGFLL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ASYDEDSEEL | QAICKLGTGF | SDEELEEHHQ | SLKALVLPSP | RPYVRIDGAV | IPDHWLDPSA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VWEVKCADLS | LSPIYPAARG | LVDSDKGISL | RFPRFIRVRE | DKQPEQATTS | AQVACLYRKQ |
| 910 | |||||
| SQIQNQQGED | SGSDPEDTY |