O60568
PR
Gene name |
PLOD3 |
Protein name |
Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8985 |
EC number |
1.14.11.4: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
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
15 structures for O60568
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6FXK | X-ray | 270 A | A | 25-738 | PDB |
| 6FXM | X-ray | 210 A | A | 25-738 | PDB |
| 6FXR | X-ray | 210 A | A | 25-738 | PDB |
| 6FXT | X-ray | 250 A | A | 25-738 | PDB |
| 6FXX | X-ray | 300 A | A | 25-738 | PDB |
| 6FXY | X-ray | 214 A | A | 25-738 | PDB |
| 6TE3 | X-ray | 230 A | A | 25-738 | PDB |
| 6TEC | X-ray | 240 A | A | 25-738 | PDB |
| 6TES | X-ray | 220 A | A | 25-738 | PDB |
| 6TEU | X-ray | 300 A | A | 25-738 | PDB |
| 6TEX | X-ray | 230 A | A | 25-738 | PDB |
| 6TEZ | X-ray | 270 A | A | 25-738 | PDB |
| 6WFV | X-ray | 170 A | A | 32-266 | PDB |
| 8ONE | X-ray | 230 A | A | 25-738 | PDB |
| AF-O60568-F1 | Predicted | AlphaFoldDB |
730 variants for O60568
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA163353689 RCV001587284 RCV001249438 rs929219335 |
187 | D>G | PLOD3-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA118385 rs121434414 RCV002512862 VAR_054913 RCV000007022 |
223 | N>S | Bone fragility with contractures, arterial rupture, and deafness BCARD; generates a new glycosylation site; decreases protein stability; strongly decreases lysyl hydroxylase activity and nearly abolishes glycosyltransferase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1798215298 RCV001336175 |
234 | D>N | Bone fragility with contractures, arterial rupture, and deafness [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562894320 RCV000761553 CA368620225 |
270 | P>L | Bone fragility with contractures, arterial rupture, and deafness [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs143577626 RCV000659081 CA4407948 RCV001001983 |
296 | P>R | Bone fragility with contractures, arterial rupture, and deafness [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000508323 RCV000514263 rs41281013 CA4407817 |
382 | D>H | Bone fragility with contractures, arterial rupture, and deafness [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_082150 | 452 | R>del | BCARD; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000757674 rs75592752 RCV000999838 CA4407685 |
468 | R>G | Bone fragility with contractures, arterial rupture, and deafness [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM598089 rs145508748 CA4407671 RCV000757677 RCV002273826 RCV003103838 |
489 | P>L | lung Bone fragility with contractures, arterial rupture, and deafness Intracerebral hemorrhage [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM743514 CA4407575 rs140879834 RCV001002170 RCV000762470 |
560 | E>Q | lung Bone fragility with contractures, arterial rupture, and deafness [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001169951 rs369002471 CA4407551 |
562 | P>S | Bone fragility with contractures, arterial rupture, and deafness [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs748105435 COSM1187399 RCV000490386 CA4407484 |
630 | Y>* | lung Bone fragility with contractures, arterial rupture, and deafness [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000007023 rs786205872 |
691 | C>missing | Bone fragility with contractures, arterial rupture, and deafness [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000659080 CA4407368 RCV002534309 rs376339415 |
713 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA163355137 rs368815896 |
3 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1245919321 CA368628219 |
4 | S>L | No |
ClinGen gnomAD |
|
|
CA4408334 rs760800644 |
5 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1372942703 CA368628187 |
8 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753195591 CA163355089 |
8 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408333 rs753195591 |
8 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298527212 CA368628184 |
9 | R>W | No |
ClinGen gnomAD |
|
|
CA4408332 rs768013978 |
13 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA368628132 rs1562896819 |
15 | P>L | No |
ClinGen Ensembl |
|
|
CA163355055 rs1037202147 |
18 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368628109 rs1386485093 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA368628102 rs1465079933 |
20 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1418148379 CA368628094 |
21 | A>V | No |
ClinGen gnomAD |
|
|
CA368628062 rs1250850558 |
24 | A>G | No |
ClinGen gnomAD |
|
|
rs1404808452 CA368628045 |
25 | S>C | No |
ClinGen TOPMed |
|
|
rs941515853 CA368628038 |
26 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA163354991 rs941515853 |
26 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA368627994 rs1490660838 |
29 | R>Q | No |
ClinGen gnomAD |
|
|
rs1222313540 CA368627996 |
29 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1044576633 CA163354977 |
30 | G>C | No |
ClinGen TOPMed |
|
|
CA368627986 rs1044576633 |
30 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 31 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237057180 CA368627926 |
34 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754076193 CA163354701 |
41 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs754076193 CA4408316 |
41 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767958979 CA4408312 |
47 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4408310 rs752058315 |
50 | E>K | No |
ClinGen ExAC |
|
|
rs1584256839 CA368626996 |
52 | Y>D | No |
ClinGen Ensembl |
|
|
rs766757369 CA4408308 |
53 | L>Q | No |
ClinGen ExAC |
|
|
rs763295820 CA4408307 |
57 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763295820 CA368626944 |
57 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958404902 CA163354653 |
58 | S>A | No |
ClinGen Ensembl |
|
|
rs1562896499 CA368626918 |
59 | A>P | No |
ClinGen Ensembl |
|
|
CA4408306 rs776359603 |
59 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1584256797 CA368626890 |
61 | F>L | No |
ClinGen Ensembl |
|
|
rs926732953 CA163354629 |
61 | F>S | No |
ClinGen Ensembl |
|
|
rs963282673 CA163354619 |
62 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs145886391 CA4408304 |
63 | N>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA368626848 rs1249409241 |
63 | N>S | No |
ClinGen gnomAD |
|
|
CA4408303 rs775172245 |
64 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1562896475 CA368626815 |
65 | T>S | No |
ClinGen Ensembl |
|
|
rs866669362 CA163354598 |
67 | R>L | No |
ClinGen gnomAD |
|
|
rs866669362 CA163354600 |
67 | R>Q | No |
ClinGen gnomAD |
|
|
rs771521329 CA4408302 |
67 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4408266 rs765674167 |
68 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407199898 CA368626695 |
69 | L>V | No |
ClinGen gnomAD |
|
|
CA368626681 rs1158167906 |
70 | G>D | No |
ClinGen gnomAD |
|
|
rs757754232 CA4408265 |
70 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA368626660 rs1490987058 |
72 | G>* | No |
ClinGen gnomAD |
|
|
CA368626616 rs1181575540 |
74 | E>G | No |
ClinGen TOPMed |
|
|
CA368626596 rs1269567750 |
75 | W>* | No |
ClinGen gnomAD |
|
|
rs767079214 CA4408263 |
75 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368626587 rs1224664350 |
76 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4408262 rs759025279 |
76 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773754058 CA4408261 |
77 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4408257 rs773194811 |
82 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408256 rs769577145 |
82 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368626497 rs769577145 |
82 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1284429544 CA368626494 |
83 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776857231 CA368626445 |
86 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368626454 rs1317735798 |
86 | G>R | No |
ClinGen gnomAD |
|
|
rs776857231 CA4408254 |
86 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368176524 CA4408253 |
87 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4408252 TCGA novel rs747072926 |
89 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs1474394000 CA368626393 |
90 | V>A | No |
ClinGen gnomAD |
|
|
CA368626399 rs1192783718 |
90 | V>I | No |
ClinGen gnomAD |
|
|
rs527996901 CA163354310 |
91 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA368626376 rs1465954083 |
92 | W>G | No |
ClinGen gnomAD |
|
|
rs902279206 CA163354307 |
97 | M>V | No |
ClinGen TOPMed |
|
|
CA4408248 rs746362805 |
99 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375209437 CA4408247 |
100 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375209437 CA368626223 |
100 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4408246 rs757627466 |
100 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA4408244 rs780846219 |
101 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4408242 rs751261465 |
102 | D>V | No |
ClinGen ExAC |
|
|
CA368626187 rs765849561 |
103 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA368626186 rs147622037 |
103 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147622037 CA4408240 |
103 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4408241 rs765849561 |
103 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs750298633 CA4408239 |
105 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1496481 COSM1496480 CA368626156 rs750298633 |
105 | D>Y | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1054158782 CA163354249 |
106 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA368626137 rs1178037378 |
106 | M>V | No |
ClinGen gnomAD |
|
|
rs560729276 CA4408237 |
109 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4408236 rs551969292 |
110 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA368626056 rs1195189939 |
110 | F>S | No |
ClinGen TOPMed |
|
|
rs200949505 RCV000998872 CA4408235 |
112 | D>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA368626001 rs1182525049 |
113 | S>N | No |
ClinGen gnomAD |
|
|
CA368625922 rs1232670004 |
114 | Y>C | No |
ClinGen gnomAD |
|
|
CA4408219 rs765121226 |
114 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs760584710 CA4408216 |
115 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753862679 CA4408217 |
115 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs145634314 COSM1083412 COSM1596581 CA4408214 |
116 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA368625851 rs1322535361 |
118 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368625816 rs1372255624 |
120 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs759638439 CA4408212 |
120 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA163354094 rs1031861555 |
121 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4408211 rs774600059 |
122 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4408210 rs771170655 |
123 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771170655 CA368625771 |
123 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA163354075 rs1015518334 |
124 | E>D | No |
ClinGen Ensembl |
|
|
CA368625712 rs1301955371 |
127 | K>N | No |
ClinGen gnomAD |
|
|
CA4408208 rs773824188 |
129 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351137791 CA368625643 |
131 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs769989629 CA368625635 |
132 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs769989629 CA4408207 |
132 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA163354072 rs984162837 |
133 | G>A | No |
ClinGen TOPMed |
|
|
rs1305502313 CA368625617 |
133 | G>S | No |
ClinGen TOPMed |
|
|
rs1418162919 CA368625596 |
134 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1407701219 CA368625583 CA368625585 |
134 | S>R | No |
ClinGen gnomAD |
|
|
rs199668947 CA4408206 |
135 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779637767 CA368625569 |
135 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408205 rs779637767 |
135 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562896059 CA368625511 |
138 | F>V | No |
ClinGen Ensembl |
|
|
CA4408203 rs745560764 |
139 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA368625482 rs1267310898 |
140 | A>T | No |
ClinGen gnomAD |
|
|
CA368625474 rs1213833423 |
141 | E>K | No |
ClinGen gnomAD |
|
|
CA4408202 rs778372657 |
142 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163354035 rs999046329 |
145 | W>L | No |
ClinGen TOPMed |
|
|
CA368625303 rs753715522 |
148 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753715522 CA4408200 |
148 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756850977 CA4408201 |
148 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs753715522 CA368625298 |
148 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408198 rs35627324 VAR_051708 |
151 | A>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs767805406 CA4408196 |
152 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759796861 CA4408195 |
153 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1363526540 CA368625215 |
154 | Y>D | No |
ClinGen TOPMed |
|
|
CA368625189 rs1345462159 |
155 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364306776 CA368625143 |
158 | G>D | No |
ClinGen TOPMed |
|
|
CA4408193 rs766353700 |
158 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4408192 rs763102265 |
159 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1434266298 CA368625113 |
160 | G>E | No |
ClinGen gnomAD |
|
|
CA368625119 rs1373431686 |
160 | G>R | No |
ClinGen TOPMed |
|
|
CA368625090 rs1304438447 |
161 | K>R | No |
ClinGen TOPMed |
|
|
CA4408189 rs748424624 |
162 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368625076 rs776951292 |
162 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776951292 CA4408188 |
162 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769058923 CA4408187 |
165 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4408186 rs372150950 |
165 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4408185 rs778605539 |
166 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs748706446 CA4408163 |
168 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA163353785 rs984078482 |
169 | F>L | No |
ClinGen Ensembl |
|
|
rs769232014 CA4408161 |
170 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408162 rs769232014 |
170 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373970754 CA4408159 |
171 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429677452 CA368624851 |
173 | A>S | No |
ClinGen gnomAD |
|
|
CA368624849 rs1429677452 |
173 | A>T | No |
ClinGen gnomAD |
|
|
rs754765786 CA4408158 |
174 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170637756 CA368624818 |
175 | T>A | No |
ClinGen gnomAD |
|
|
CA368624809 rs201989842 |
175 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4408157 rs201989842 |
175 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384901818 CA368624797 |
176 | I>T | No |
ClinGen gnomAD |
|
|
CA163353743 rs920961090 COSM326183 |
176 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA368624776 rs1261527835 |
177 | H>L | No |
ClinGen TOPMed |
|
|
rs34646598 CA4408155 RCV000968615 |
179 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368624728 rs1483376556 |
180 | V>A | No |
ClinGen gnomAD |
|
|
rs765347029 CA4408152 |
180 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs761949569 COSM125448 CA4408151 |
181 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764596991 CA4408149 |
181 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764596991 CA4408150 |
181 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760977710 CA4408148 |
182 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775954530 CA4408147 |
183 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA368624652 rs1342566048 |
185 | Y>H | No |
ClinGen gnomAD |
|
|
CA163353662 rs35159414 |
190 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368287580 CA4408143 |
190 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143734860 CA368624542 |
191 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143734860 CA4408141 |
191 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368624461 rs768748003 |
197 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4408139 rs746963202 |
197 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768748003 CA4408140 |
197 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1001154230 CA163353641 |
198 | L>F | No |
ClinGen TOPMed |
|
|
CA4408138 rs779880576 |
198 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA368624357 rs758186099 |
201 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045047857 CA163353640 |
201 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA368624370 rs1045047857 |
201 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1253948854 CA368624347 |
202 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4408136 rs750653985 |
203 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs915727650 CA163353626 |
205 | R>G | No |
ClinGen TOPMed |
|
|
CA4408135 rs779010610 |
205 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776488125 CA4408105 |
207 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208519410 CA368624038 |
207 | K>T | No |
ClinGen gnomAD |
|
|
rs370244221 CA4408103 |
208 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4408104 rs373370438 |
208 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368623972 rs1346461830 |
209 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 211 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140075236 CA4408100 |
214 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163352971 rs112995425 |
216 | S>P | No |
ClinGen Ensembl |
|
|
rs200249528 CA163352965 |
217 | R>Q | No |
ClinGen gnomAD |
|
|
rs745633525 CA4408099 |
217 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777338895 CA163352958 |
218 | I>S | No |
ClinGen Ensembl |
|
|
CA368623744 rs1562895410 |
220 | Q>H | No |
ClinGen Ensembl |
|
|
rs770760479 CA4408097 |
223 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778033206 CA368623674 |
223 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1190952337 CA368623652 |
224 | G>E | No |
ClinGen TOPMed |
|
|
CA4408095 rs377578690 CA368623672 |
224 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368623616 rs1450914625 |
226 | L>S | No |
ClinGen gnomAD |
|
|
CA163351784 rs907256109 |
232 | K>E | No |
ClinGen Ensembl |
|
|
CA4408064 rs751428470 |
234 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4408063 rs766314490 |
234 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408065 rs751428470 |
234 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA368621736 rs751428470 COSM72226 |
234 | D>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs370032502 CA4408061 |
235 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146134980 COSM1083411 CA4408062 |
235 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4408060 rs769682899 |
236 | N>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1643191 rs761931995 CA4408059 |
237 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4408058 rs548652350 |
237 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408057 rs768551448 |
238 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747100283 CA4408056 |
239 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4408055 rs780659488 |
239 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs772738908 CA4408054 |
240 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs141948483 CA4408050 |
241 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757697926 CA4408051 |
241 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375154042 CA163351689 |
242 | N>T | No |
ClinGen ESP |
|
|
CA4408048 rs529683884 |
243 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1083410 CA4408046 rs766261555 |
246 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4408044 rs144851657 RCV000956514 |
247 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4408045 rs144851657 |
247 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368621473 rs1488918915 |
247 | T>S | No |
ClinGen gnomAD |
|
|
rs138687024 CA4408042 |
250 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4408043 rs149421464 |
250 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368621375 rs1299951287 |
252 | V>I | No |
ClinGen gnomAD |
|
|
rs1279584601 CA368621358 |
253 | H>D | No |
ClinGen TOPMed |
|
|
CA4408040 rs764399995 |
256 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775683536 CA4408038 |
258 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4408003 rs778679655 |
262 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201390485 CA4408002 |
263 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1397115128 CA368621012 |
263 | N>Y | No |
ClinGen gnomAD |
|
|
CA368620985 rs1354567434 |
264 | Y>S | No |
ClinGen TOPMed |
|
|
CA368620945 rs1429131620 |
266 | G>E | No |
ClinGen gnomAD |
|
|
CA368620953 rs1306237288 |
266 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4408001 rs753770645 |
267 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 268 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4407999 rs377320080 RCV000933389 |
269 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368620220 rs1350200360 |
271 | N>H | No |
ClinGen TOPMed |
|
|
CA4407998 rs535949022 |
271 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1346911680 COSM1622131 CA368620206 |
272 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4407996 rs759484253 |
273 | W>* | No |
ClinGen ExAC |
|
|
rs767861354 CA4407997 |
273 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1188048097 CA368620193 |
273 | W>G | No |
ClinGen gnomAD |
|
|
rs751691127 CA4407995 |
275 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA368620158 rs751691127 |
275 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766407240 CA4407994 |
276 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA163351481 rs1041461490 |
278 | G>D | No |
ClinGen Ensembl |
|
|
rs773777464 CA4407992 |
278 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA368620103 rs1257153873 |
279 | C>Y | No |
ClinGen TOPMed |
|
|
CA4407991 rs770077760 |
283 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407990 rs762179134 |
283 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407989 rs775078833 |
284 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407988 rs771747385 |
284 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395136416 CA368620016 |
285 | D>N | No |
ClinGen TOPMed |
|
|
rs145743073 CA4407986 |
286 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_012075 rs1134907 CA4407987 |
286 | R>W | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1351167439 CA368619980 |
287 | R>K | No |
ClinGen gnomAD |
|
|
rs770403119 CA4407985 |
288 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368619950 rs1385274325 |
289 | L>V | No |
ClinGen gnomAD |
|
|
rs749241534 CA4407984 |
290 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368619935 rs1299124702 |
290 | P>S | No |
ClinGen gnomAD |
|
|
rs200279103 CA4407981 |
291 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4407979 rs200279103 |
291 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755911884 CA4407982 |
291 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs200279103 CA4407980 |
291 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4407978 rs751775730 |
292 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158264387 CA368619927 |
292 | G>R | No |
ClinGen gnomAD |
|
|
CA368619915 rs751775730 |
292 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746342377 | 293 | Q>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746342377 | 293 | Q>S | Variant assessed as Somatic; 9.576e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000478234 rs143577626 CA4407949 |
296 | P>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143577626 COSM1083409 CA4407950 |
296 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776439156 CA4407946 |
297 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407943 rs138002558 |
297 | R>Q | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA4407945 rs776439156 COSM452060 |
297 | R>W | Variant assessed as Somatic; 0.000232 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4407941 rs750879311 |
298 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1442422055 CA368619654 |
301 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4407938 rs181326069 |
302 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4407937 rs181326069 |
302 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA163351217 rs920764958 |
303 | F>I | No |
ClinGen TOPMed |
|
|
rs746140976 CA4407936 |
303 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA368619616 rs1302476779 |
304 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4407935 rs778953333 |
306 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1274144828 CA368619596 |
306 | Q>P | No |
ClinGen gnomAD |
|
|
CA368619582 rs1363743323 |
307 | P>L | No |
ClinGen gnomAD |
|
|
rs757397555 CA4407934 |
308 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4407932 rs764519054 |
309 | P>A | No |
ClinGen ExAC |
|
|
CA4407931 rs377166799 |
309 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 309 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168769480 CA368619535 |
312 | P>T | No |
ClinGen gnomAD |
|
|
CA4407927 rs140299455 |
313 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764834505 CA4407926 |
313 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163351174 rs532722970 |
314 | F>I | No |
ClinGen Ensembl |
|
|
rs1463452672 CA368619494 |
316 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 316 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4407924 rs373230090 |
317 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258773963 CA368619464 |
317 | R>W | No |
ClinGen gnomAD |
|
|
rs1482077436 CA368619420 |
320 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4407923 rs143194730 |
321 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4407921 rs775128872 |
323 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1309526677 CA368619350 |
324 | P>H | No |
ClinGen gnomAD |
|
|
rs1309526677 CA368619344 |
324 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1287440412 CA368619339 |
325 | P>A | No |
ClinGen gnomAD |
|
|
CA4407920 rs771915167 |
325 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368619336 rs1287440412 |
325 | P>S | No |
ClinGen gnomAD |
|
|
CA4407917 rs369736445 |
326 | D>N | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| rs777393176 | 326 | D>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770938015 CA4407915 |
327 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407914 rs749345313 |
327 | R>K | No |
ClinGen ExAC |
|
|
rs770938015 CA4407916 |
327 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163351137 rs973118117 |
328 | V>A | No |
ClinGen Ensembl |
|
|
CA368619285 rs973118117 |
328 | V>G | No |
ClinGen Ensembl |
|
|
rs146795873 CA4407913 |
328 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756547572 CA4407912 |
329 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4407911 rs143574903 |
330 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4407910 rs143574903 RCV000906535 |
330 | L>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368619262 rs1584253704 |
331 | F>L | No |
ClinGen Ensembl |
|
|
rs1546841 CA4407908 |
331 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755459809 CA4407909 |
331 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761366791 CA4407906 |
333 | H>D | No |
ClinGen ExAC gnomAD |
|
| rs763712959 | 335 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175496342 CA368619101 |
337 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA368619104 rs1175496342 |
337 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368619062 rs1562893827 |
339 | H>R | No |
ClinGen Ensembl |
|
|
rs773548323 CA4407875 |
340 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs773548323 CA368619046 |
340 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4407876 rs763073092 |
340 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367626435 CA368619025 |
341 | P>R | No |
ClinGen gnomAD |
|
|
rs1032753694 CA163350995 |
342 | H>R | No |
ClinGen Ensembl |
|
|
CA368619018 rs1164013477 |
342 | H>Y | No |
ClinGen gnomAD |
|
|
CA368618999 rs1318508025 |
343 | I>V | No |
ClinGen TOPMed |
|
|
rs145247929 CA368618990 |
344 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145247929 CA4407873 |
344 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482274825 CA368618966 |
345 | D>A | No |
ClinGen gnomAD |
|
|
CA4407871 rs150001477 |
346 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4407870 rs150001477 |
346 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4407872 rs777240572 |
346 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA368618929 rs1349459565 |
348 | P>A | No |
ClinGen gnomAD |
|
|
rs780555355 CA4407869 |
348 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780555355 CA368618923 |
348 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407866 rs777497883 COSM1330217 |
349 | Q>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1296825015 CA368618885 |
350 | L>F | No |
ClinGen gnomAD |
|
|
CA4407865 rs755527280 |
351 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs980369351 CA163350971 |
352 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 352 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4407863 rs767050732 |
358 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1429416587 CA368618752 |
358 | K>N | No |
ClinGen gnomAD |
|
|
CA4407860 rs183884043 |
360 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs183884043 CA163350966 |
360 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4407858 rs201666755 |
362 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4407856 rs372042667 |
363 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150873622 CA4407854 |
365 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368618632 rs1252225138 |
366 | L>P | No |
ClinGen gnomAD |
|
|
rs747517564 CA4407852 |
368 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4407850 rs772269466 |
370 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4407849 rs746263060 |
371 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368618490 CA368618496 rs1300144646 |
374 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4407847 rs747843071 |
374 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA163350925 rs1008989119 |
374 | M>T | No |
ClinGen TOPMed |
|
|
CA4407846 rs747843071 |
374 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA163350917 rs376124107 |
375 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376124107 CA4407845 |
375 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1231291965 CA368618384 |
376 | M>I | No |
ClinGen gnomAD |
|
|
rs751428849 CA4407843 |
376 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA163350764 rs769885658 |
377 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs754058543 CA4407820 |
377 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764437988 CA4407819 |
379 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760793807 CA4407818 |
380 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362778232 CA368618330 |
380 | R>W | No |
ClinGen gnomAD |
|
|
CA368618316 rs1401277634 |
381 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA368618312 rs1161160350 |
381 | Q>R | No |
ClinGen TOPMed |
|
|
CA368618296 rs1584253158 |
382 | D>A | No |
ClinGen Ensembl |
|
|
rs760071769 CA4407815 |
384 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4407813 rs141016387 |
386 | E>K | No |
ClinGen ESP ExAC |
|
|
rs763320315 CA4407812 |
387 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1344506374 CA368618188 |
388 | Y>C | No |
ClinGen Ensembl |
|
|
CA368618193 rs1195395005 |
388 | Y>D | No |
ClinGen gnomAD |
|
|
CA368618140 rs1448120768 |
391 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1340362825 CA368618108 |
393 | A>G | No |
ClinGen gnomAD |
|
|
rs372590450 CA368618115 |
393 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368618109 rs372590450 |
393 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4407809 rs372590450 |
393 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1083408 CA4407807 rs771549876 |
394 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs969774203 CA163350728 |
395 | A>T | No |
ClinGen gnomAD |
|
|
CA4407805 rs778731070 |
396 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4407804 rs757073563 |
398 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs749129317 CA4407803 |
399 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4407802 rs777747589 |
399 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777747589 CA368618036 |
399 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368618017 rs1231134106 |
400 | L>Q | No |
ClinGen gnomAD |
|
|
rs1231134106 CA368618013 |
400 | L>R | No |
ClinGen gnomAD |
|
|
rs1417773286 CA368617980 |
402 | T>I | No |
ClinGen gnomAD |
|
|
CA368617971 rs1167745425 |
403 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs143428253 COSM3083043 CA4407799 |
404 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4407798 rs137857342 |
404 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485354450 CA368617929 |
406 | L>F | No |
ClinGen gnomAD |
|
|
rs1258391591 CA368617928 |
406 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4407795 rs766893581 |
407 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163350694 rs1005684137 |
410 | N>K | No |
ClinGen Ensembl |
|
|
rs750765078 CA163350691 |
411 | R>G | No |
ClinGen gnomAD |
|
|
CA163350557 rs921756908 |
412 | K>N | No |
ClinGen TOPMed |
|
|
rs749230902 CA4407765 |
412 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1402547463 CA368617685 |
413 | V>M | No |
ClinGen gnomAD |
|
|
rs781436353 CA4407761 |
415 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4407763 rs144508814 COSM743513 |
415 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144508814 CA4407762 |
415 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184706399 CA368617611 |
416 | P>L | No |
ClinGen gnomAD |
|
|
rs1341074530 CA368617601 |
417 | M>V | No |
ClinGen TOPMed |
|
|
rs780103868 CA4407758 |
419 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs747314273 CA4407759 |
419 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs367797717 CA4407757 |
420 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750873977 CA4407756 |
420 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs779421418 CA4407755 |
421 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349033886 CA368617511 |
421 | H>Y | No |
ClinGen gnomAD |
|
|
CA368617499 rs1361810564 |
422 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754125482 CA4407753 |
422 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407751 rs759093145 |
425 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4407750 rs751321650 |
427 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1186812422 CA368617360 |
428 | F>L | No |
ClinGen TOPMed |
|
|
CA368617349 rs1435642015 |
429 | W>* | No |
ClinGen gnomAD |
|
|
CA368617314 rs765917145 |
430 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1396630720 CA368617327 |
430 | G>S | No |
ClinGen gnomAD |
|
|
CA4407749 rs765917145 |
430 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA163350502 rs149262948 |
431 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA163350505 rs529293492 |
431 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4407747 rs529293492 |
431 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368617295 rs149262948 |
431 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 432 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4407745 rs761849842 |
433 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163350490 rs1044539662 |
435 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4407742 rs371224746 |
435 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4407743 rs192851267 |
435 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780270243 CA4407741 |
436 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1296844399 CA368617163 |
437 | Y>C | No |
ClinGen gnomAD |
|
|
rs111650634 CA163350480 |
438 | Y>H | No |
ClinGen Ensembl |
|
|
CA4407739 rs138610113 |
439 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000885205 CA4407738 rs138610113 |
439 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1312397134 CA368617115 |
439 | A>V | No |
ClinGen gnomAD |
|
|
rs757687149 CA4407737 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1728602 CA4407736 rs368088563 |
440 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368088563 CA368617105 |
440 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs935807855 CA163350430 |
442 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs543048444 CA163350434 |
442 | E>K | No |
ClinGen TOPMed |
|
|
rs1206697382 CA368617071 |
442 | E>V | No |
ClinGen TOPMed |
|
|
CA368617068 rs1468924143 |
443 | D>N | No |
ClinGen TOPMed |
|
|
CA163350415 rs923589148 |
445 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA368616946 rs1416493577 |
448 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 449 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4407731 rs373909940 |
450 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4407732 rs766150931 |
450 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368616869 rs749921338 |
452 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749921338 CA4407730 |
452 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370762684 CA4407729 |
452 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370762684 CA4407728 RCV000757676 |
452 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368616848 rs1584252767 |
453 | V>G | No |
ClinGen Ensembl |
|
|
CA4407691 rs763646130 |
456 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303928482 CA368615337 |
459 | P>L | No |
ClinGen gnomAD |
|
|
CA368615314 rs756035426 |
460 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407689 rs150135216 |
464 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201711445 CA4407687 |
465 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4407688 rs201711445 |
465 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763124181 CA4407684 |
468 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs75592752 CA4407686 |
468 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368615124 rs1171354354 |
470 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1584252235 CA368615117 |
471 | T>P | No |
ClinGen Ensembl |
|
|
CA368615089 rs1394829775 |
472 | L>P | No |
ClinGen gnomAD |
|
|
rs762343753 CA4407681 |
473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770056635 CA4407682 |
473 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA163347729 rs1026852275 |
474 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1026852275 CA368615073 |
474 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757612083 CA4407680 |
475 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368615037 rs757612083 |
475 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368614980 rs769095247 |
478 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4407679 rs769095247 |
478 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs747434475 CA4407678 |
478 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1026679538 CA163347699 |
481 | V>M | No |
ClinGen TOPMed |
|
|
CA163347691 rs993367504 |
482 | F>V | No |
ClinGen TOPMed |
|
|
CA4407676 rs376119433 |
483 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4407675 rs143759215 |
483 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368614852 rs376119433 |
483 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368614784 rs1297467796 |
484 | G>V | No |
ClinGen TOPMed |
|
|
CA368614743 rs1230154740 |
486 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4407672 rs752570077 |
487 | T>I | No |
ClinGen ExAC |
|
|
rs1584252189 CA368614725 |
488 | D>N | No |
ClinGen Ensembl |
|
|
CA368614634 rs1310590625 |
491 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1584252178 CA368614597 |
492 | A>T | No |
ClinGen Ensembl |
|
|
rs369969073 CA4407668 |
492 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191441470 CA4407666 |
494 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762008131 COSM1083405 CA4407664 |
498 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4407663 rs777238858 |
498 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769256913 CA4407662 |
499 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1054482083 CA163347596 |
499 | D>H | No |
ClinGen TOPMed |
|
|
rs1054482083 CA368614457 |
499 | D>N | No |
ClinGen TOPMed |
|
|
rs1318174260 CA368614423 |
500 | K>N | No |
ClinGen gnomAD |
|
|
CA368614293 rs1167148560 |
506 | L>V | No |
ClinGen TOPMed |
|
|
rs747845058 CA4407638 |
509 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35929039 CA4407637 RCV000507284 |
510 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368614129 rs1562892531 |
513 | G>D | No |
ClinGen Ensembl |
|
|
CA4407634 rs202167843 |
514 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4407635 rs746896780 |
514 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758172509 CA4407633 |
515 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1008292431 CA163347418 |
515 | L>P | No |
ClinGen Ensembl |
|
|
CA4407632 rs745629617 |
517 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA163347398 rs142888598 |
518 | T>N | No |
ClinGen ESP |
|
|
rs1159485050 CA368614024 |
519 | S>C | No |
ClinGen gnomAD |
|
|
CA4407630 rs757537488 |
520 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407629 rs754177160 |
521 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756157359 CA4407627 |
522 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407626 COSM333194 rs202176617 |
523 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1584251998 CA368613902 |
525 | H>Q | No |
ClinGen Ensembl |
|
|
rs1584251992 CA368613879 |
527 | H>P | No |
ClinGen Ensembl |
|
|
CA368613865 rs1208860656 |
528 | P>A | No |
ClinGen TOPMed |
|
|
CA4407623 rs766789252 |
529 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4407622 rs766789252 |
529 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4407621 rs761452213 |
531 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1562892483 CA368613777 |
533 | I>F | No |
ClinGen Ensembl |
|
|
rs768164152 CA4407620 |
534 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163347361 rs1000275756 |
535 | D>N | No |
ClinGen TOPMed |
|
|
CA368613707 rs1584251974 |
535 | D>V | No |
ClinGen Ensembl |
|
|
rs1247072000 CA368613675 |
536 | N>S | No |
ClinGen TOPMed |
|
|
rs1295837681 CA368613644 |
537 | P>H | No |
ClinGen gnomAD |
|
|
CA4407618 rs746531692 |
537 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA163347359 rs779997156 |
538 | V>I | No |
ClinGen TOPMed |
|
|
rs569925996 CA163347198 |
539 | D>Y | No |
ClinGen Ensembl |
|
|
rs1296288542 CA368613415 |
543 | Q>E | No |
ClinGen gnomAD |
|
|
rs986773012 CA163347187 |
545 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1018597384 CA163347189 |
545 | I>T | No |
ClinGen Ensembl |
|
|
RCV000513344 CA368613363 rs1400897440 |
546 | H>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA368613354 rs1400897440 |
546 | H>Y | No |
ClinGen gnomAD |
|
|
CA4407584 rs557730054 |
547 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557730054 CA368613325 |
547 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368613210 rs767074045 |
551 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767074045 CA4407581 |
551 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407582 rs144815295 |
551 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1030637039 CA163347155 |
552 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1201136098 CA368613155 |
554 | E>D | No |
ClinGen gnomAD |
|
|
rs1259200689 CA368613156 |
554 | E>V | No |
ClinGen gnomAD |
|
|
rs1332762837 CA368613132 |
556 | E>K | No |
ClinGen gnomAD |
|
|
rs759134661 CA4407579 |
557 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407578 rs774395330 |
558 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000762471 CA4407576 rs746812876 |
559 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4407574 rs769699387 |
560 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163347125 rs942963557 |
561 | Q>P | No |
ClinGen TOPMed |
|
|
rs779493601 CA4407549 |
563 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs749637576 CA4407547 |
564 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4407548 rs757518820 |
564 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893706668 CA163346258 |
565 | D>G | No |
ClinGen Ensembl |
|
|
CA4407545 rs754667665 |
565 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765922998 CA4407543 |
566 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368612656 rs1402021091 |
569 | F>L | No |
ClinGen gnomAD |
|
|
CA163346222 rs372579198 |
574 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196239419 COSM227770 CA368612545 |
576 | M>I | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA368612553 rs1479316619 |
576 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 582 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261978561 CA368612405 |
584 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA368612412 rs1192988536 |
584 | M>T | No |
ClinGen gnomAD |
|
|
CA4407541 RCV000922473 rs147326916 |
586 | H>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs111848632 CA163346212 |
586 | H>R | No |
ClinGen Ensembl |
|
|
CA368612340 rs1441627968 |
588 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1279114162 CA368612299 |
589 | Q>R | No |
ClinGen gnomAD |
|
|
CA4407539 rs761705323 |
590 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1202087178 CA368612276 |
590 | W>R | No |
ClinGen gnomAD |
|
|
rs760819096 CA4407536 |
593 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368612204 rs531449765 |
593 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4407537 rs531449765 |
593 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA368612183 rs760819096 |
593 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163346182 rs745986631 |
594 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407533 rs745986631 |
594 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407534 rs369393050 |
594 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4407532 rs774330683 COSM307532 |
595 | H>Y | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4407506 rs139049819 |
599 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200275391 CA163345442 |
599 | R>W | No |
ClinGen 1000Genomes |
|
|
rs965765474 CA163345410 |
601 | A>S | No |
ClinGen Ensembl |
|
|
rs1434022746 CA368611337 |
602 | G>R | No |
ClinGen Ensembl |
|
|
rs1351922678 CA368611312 |
602 | G>V | No |
ClinGen gnomAD |
|
|
CA368611250 rs1241357246 |
605 | E>K | No |
ClinGen gnomAD |
|
|
CA163345385 rs756081191 CA4407503 |
606 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584250273 CA368611167 |
609 | T>P | No |
ClinGen Ensembl |
|
|
CA4407501 rs367756400 |
610 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767277255 CA4407500 |
612 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1325772829 CA368611061 |
614 | M>V | No |
ClinGen gnomAD |
|
|
rs1379594753 CA368611005 |
617 | V>G | No |
ClinGen Ensembl |
|
|
rs1418147986 CA368611008 |
617 | V>L | No |
ClinGen gnomAD |
|
|
rs201613747 CA4407496 |
620 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773815193 CA4407495 |
622 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762468045 CA4407493 |
622 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs770394017 CA4407494 |
622 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1213976958 CA368610871 |
623 | W>* | No |
ClinGen gnomAD |
|
|
rs777049170 CA4407492 |
625 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407491 rs148219926 |
628 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1312538 rs1034818885 CA163345348 |
628 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs74498833 CA4407490 |
629 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368610750 rs756035407 |
630 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756035407 CA4407486 |
630 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748761204 CA4407487 |
630 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4407485 rs756035407 |
630 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407483 rs780976934 |
632 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs531587667 CA4407481 |
634 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4407480 rs202064184 RCV000907413 |
635 | T>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs200112480 CA4407478 |
636 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4407476 rs755547790 |
637 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4407477 rs755547790 |
637 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764469361 CA4407474 |
640 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA368610490 rs764469361 |
640 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4407472 rs775960819 |
641 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368610417 rs1562891074 |
643 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 644 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201862554 CA163345278 |
645 | K>N | No |
ClinGen Ensembl |
|
|
rs368456141 CA163344620 |
646 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368610072 rs1197561363 |
646 | A>T | No |
ClinGen gnomAD |
|
|
rs368456141 CA4407447 |
646 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376302927 CA368610043 |
647 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376302927 CA4407444 |
647 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000762469 rs772004501 CA4407445 |
647 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs779308242 CA4407442 |
648 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368610004 rs1584249628 |
649 | V>G | No |
ClinGen Ensembl |
|
|
CA163344555 rs886597664 |
649 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 651 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4407439 rs753836252 |
654 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs777964746 CA4407438 |
655 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407437 rs756572111 |
655 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145574810 CA4407435 |
656 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368609803 rs1584249605 |
656 | Y>S | No |
ClinGen Ensembl |
|
|
CA163344526 rs747745259 |
657 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163344514 rs750040825 |
657 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407433 rs750040825 |
657 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750040825 CA368609781 |
657 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747745259 CA4407434 |
657 | R>W | Variant assessed as Somatic; 6.384e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761576023 CA4407431 |
660 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761576023 CA368609726 |
660 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407430 rs367776170 |
661 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368609696 rs1185112432 |
661 | Q>P | No |
ClinGen TOPMed |
|
|
CA368609648 rs138165832 |
662 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138165832 CA4407428 |
662 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462115147 CA368609657 |
662 | P>S | No |
ClinGen TOPMed |
|
|
rs1281185643 CA368609621 |
663 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 663 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745623784 CA4407424 |
665 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771951643 CA4407425 RCV000487905 |
665 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 666 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337909973 CA368609566 |
667 | H>Y | No |
ClinGen gnomAD |
|
|
CA163344425 rs370276858 |
668 | H>D | No |
ClinGen ESP TOPMed |
|
|
CA163344420 rs374560741 |
668 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368609536 rs370276858 |
668 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA368609508 rs771042939 |
669 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771042939 CA4407422 |
669 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407421 rs749588151 |
672 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749588151 CA368609408 |
672 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1201360012 CA368609349 |
675 | L>F | No |
ClinGen TOPMed |
|
|
rs111900768 CA368609311 |
676 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777650701 CA4407420 |
676 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4407418 rs753158711 |
677 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781689698 CA4407417 |
678 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA368609217 rs1584249510 |
679 | L>P | No |
ClinGen Ensembl |
|
|
CA4407416 rs773286578 |
680 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163344358 rs773286578 |
680 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368609205 rs773286578 |
680 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 681 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751899386 CA4407415 |
681 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4407414 rs766827103 |
682 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA368609119 rs1291518785 |
683 | G>S | No |
ClinGen gnomAD |
|
|
CA4407413 rs761368327 |
683 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019713896 CA163344300 |
685 | D>G | No |
ClinGen gnomAD |
|
|
CA368609018 rs1277145873 |
686 | Y>C | No |
ClinGen gnomAD |
|
|
rs1223440172 CA368609043 |
686 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769982823 CA4407384 |
689 | G>A | No |
ClinGen ExAC |
|
|
CA4407381 rs776689472 |
692 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407380 rs371621231 |
692 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4407379 rs747423129 |
695 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4407378 rs780640063 |
695 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140519195 CA368607905 |
696 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1490393008 CA368607873 |
697 | D>E | No |
ClinGen gnomAD |
|
|
rs528770480 CA163343880 |
697 | D>G | No |
ClinGen 1000Genomes |
|
|
rs199647243 CA4407376 |
697 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs563693250 CA163343875 |
702 | S>Y | No |
ClinGen 1000Genomes |
|
|
CA4407374 rs779199558 |
703 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163343830 rs988564631 |
704 | R>W | No |
ClinGen gnomAD |
|
|
CA368607740 rs1584249119 |
705 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 706 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376945666 CA163343817 |
706 | G>V | No |
ClinGen ESP |
|
|
rs1224893368 CA368607689 |
707 | W>* | No |
ClinGen gnomAD |
|
|
rs752400866 CA4407372 |
708 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752400866 CA368607656 |
708 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584249091 CA368607603 |
711 | H>P | No |
ClinGen Ensembl |
|
|
rs1305209886 CA368607599 |
711 | H>Q | No |
ClinGen gnomAD |
|
|
CA4407370 rs754561361 |
711 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 712 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163343807 rs373117657 |
714 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4407367 rs777291237 |
714 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368607560 COSM1673408 rs777291237 |
714 | R>L | lung central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1422982940 CA368607538 |
715 | L>F | No |
ClinGen gnomAD |
|
|
CA368607494 rs1428292888 |
716 | T>I | No |
ClinGen TOPMed |
|
|
CA4407365 rs765084518 |
717 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA368607385 rs768681053 |
720 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768681053 CA4407362 |
720 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4407361 rs760776072 |
721 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs775480770 CA4407359 |
724 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs375797901 CA4407358 RCV000506767 |
724 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4407356 rs779351171 |
725 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs916041374 CA163343726 |
727 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368607167 rs1406525759 |
728 | T>I | No |
ClinGen gnomAD |
|
|
rs771432327 CA4407355 |
729 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368607153 rs1361548571 |
729 | R>H | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4407354 rs747756291 |
731 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368607053 rs1584249014 |
733 | V>G | No |
ClinGen Ensembl |
|
|
rs1357311807 CA368607034 |
734 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
RCV000757675 CA368607050 rs1432678087 |
734 | S>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs781025282 CA4407353 |
735 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA163343702 rs958597006 |
737 | D>A | No |
ClinGen Ensembl |
|
|
rs534871539 CA4407351 |
737 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
1 associated diseases with O60568
[MIM: 612394]: Lysyl hydroxylase 3 deficiency (LH3 deficiency)
Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome. {ECO:0000269|PubMed:18834968, ECO:0000269|PubMed:30089812, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome. {ECO:0000269|PubMed:18834968, ECO:0000269|PubMed:30089812, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for O60568
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Procollagen-lysine 5-dioxygenase, conserved site | 666 - 673 | IPR001006 |
| domain | Oxoglutarate/iron-dependent dioxygenase | 647 - 738 | IPR005123 |
| domain | Prolyl 4-hydroxylase, alpha subunit | 564 - 737 | IPR006620 |
| domain | Isopenicillin N synthase-like, Fe(2+) 2OG dioxygenase domain | 652 - 737 | IPR044861 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.11.4 | With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| iron ion binding | Binding to an iron (Fe) ion. |
| L-ascorbic acid binding | Binding to L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. |
| metal ion binding | Binding to a metal ion. |
| procollagen galactosyltransferase activity | Catalysis of the reaction: UDP-galactose + procollagen 5-hydroxy-L-lysine = UDP + procollagen 5-(D-galactosyloxy)-L-lysine. |
| procollagen glucosyltransferase activity | Catalysis of the reaction: UDP-glucose + 5-(D-galactosyloxy)-L-lysine-procollagen = UDP + 1,2-D-glucosyl-5-D-(galactosyloxy)-L-lysine-procollagen. |
| procollagen-lysine 5-dioxygenase activity | Catalysis of the reaction: procollagen L-lysine + 2-oxoglutarate + O2 = procollagen 5-hydroxy-L-lysine + succinate + CO2. |
| small molecule binding | Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| basement membrane assembly | The aggregation, arrangement and bonding together of a set of components to form a basement membrane, a part of the extracellular region that consists of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. |
| collagen fibril organization | Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. |
| collagen metabolic process | The chemical reactions and pathways involving collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| endothelial cell morphogenesis | The change in form (cell shape and size) that occurs during the differentiation of an endothelial cell. |
| epidermis morphogenesis | The process in which the anatomical structures of the epidermis are generated and organized. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| hydroxylysine biosynthetic process | The chemical reactions and pathways resulting in the formation of hydroxylysine (5-hydroxy-2,6-diaminohexanoic acid), a chiral alpha-amino acid. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| lung morphogenesis | The process in which the anatomical structures of the lung are generated and organized. |
| neural tube development | The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. |
| peptidyl-lysine hydroxylation | The hydroxylation of peptidyl-lysine to form peptidyl-hydroxylysine. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
| sequestering of metal ion | The process of binding or confining metal ions such that they are separated from other components of a biological system. |
| vasodilation | An increase in the internal diameter of blood vessels, especially arterioles or capillaries, due to relaxation of smooth muscle cells that line the vessels, and usually resulting in a decrease in blood pressure. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A7MB73 | CERCAM | Probable inactive glycosyltransferase 25 family member 3 | Bos taurus (Bovine) | PR |
| P24802 | PLOD1 | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Gallus gallus (Chicken) | PR |
| Q8IPK4 | CG31915 | Glycosyltransferase 25 family member | Drosophila melanogaster (Fruit fly) | PR |
| Q5T4B2 | CERCAM | Inactive glycosyltransferase 25 family member 3 | Homo sapiens (Human) | PR |
| A3KGW5 | Cercam | Inactive glycosyltransferase 25 family member 3 | Mus musculus (Mouse) | PR |
| Q20679 | let-268 | Multifunctional procollagen lysine hydroxylase and glycosyltransferase | Caenorhabditis elegans | PR |
| Q3ED68 | ICU11 | 2-oxoglutarate and iron-dependent oxygenase domain-containing protein ICU11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSSGPGPRF | LLLLPLLLPP | AASASDRPRG | RDPVNPEKLL | VITVATAETE | GYLRFLRSAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FFNYTVRTLG | LGEEWRGGDV | ARTVGGGQKV | RWLKKEMEKY | ADREDMIIMF | VDSYDVILAG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPTELLKKFV | QSGSRLLFSA | ESFCWPEWGL | AEQYPEVGTG | KRFLNSGGFI | GFATTIHQIV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RQWKYKDDDD | DQLFYTRLYL | DPGLREKLSL | NLDHKSRIFQ | NLNGALDEVV | LKFDRNRVRI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RNVAYDTLPI | VVHGNGPTKL | QLNYLGNYVP | NGWTPEGGCG | FCNQDRRTLP | GGQPPPRVFL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AVFVEQPTPF | LPRFLQRLLL | LDYPPDRVTL | FLHNNEVFHE | PHIADSWPQL | QDHFSAVKLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GPEEALSPGE | ARDMAMDLCR | QDPECEFYFS | LDADAVLTNL | QTLRILIEEN | RKVIAPMLSR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HGKLWSNFWG | ALSPDEYYAR | SEDYVELVQR | KRVGVWNVPY | ISQAYVIRGD | TLRMELPQRD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VFSGSDTDPD | MAFCKSFRDK | GIFLHLSNQH | EFGRLLATSR | YDTEHLHPDL | WQIFDNPVDW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KEQYIHENYS | RALEGEGIVE | QPCPDVYWFP | LLSEQMCDEL | VAEMEHYGQW | SGGRHEDSRL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AGGYENVPTV | DIHMKQVGYE | DQWLQLLRTY | VGPMTESLFP | GYHTKARAVM | NFVVRYRPDE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QPSLRPHHDS | STFTLNVALN | HKGLDYEGGG | CRFLRYDCVI | SSPRKGWALL | HPGRLTHYHE |
| 730 | |||||
| GLPTTWGTRY | IMVSFVDP |