Q96GM8
PR
Gene name |
TOE1 |
Protein name |
Target of EGR1 protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114034 |
EC number |
|
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
2 structures for Q96GM8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2FC6 | NMR | - | A | 285-321 | PDB |
| AF-Q96GM8-F1 | Predicted | AlphaFoldDB |
433 variants for Q96GM8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000464651 rs865954220 RCV001307520 |
1 | M>L | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1646823787 RCV001066037 RCV001188722 |
1 | M>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687399 RCV001770172 RCV003165560 rs865954220 RCV002282055 RCV000223135 |
1 | M>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1646822375 RCV001233094 |
2 | A>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340137943 RCV000580958 rs748689064 |
2 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001017945 CA089470 RCV000759160 rs781609463 |
2 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001187159 rs1646825989 |
5 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057520831 CA16603715 RCV001188222 RCV001188616 RCV000432156 |
5 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001179411 rs562733690 CA089464 |
6 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA826480 rs774056037 RCV000851255 VAR_078850 |
73 | R>S | Pontocerebellar hypoplasia type 7 PCH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000477708 CA826522 VAR_078851 rs371848318 |
103 | A>T | Pontocerebellar hypoplasia type 7 PCH7; reduced protein levels; decreased function in snRNA 3'-end processing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_078852 RCV000477680 CA826560 rs148067486 |
148 | F>Y | Pontocerebellar hypoplasia type 7 PCH7; reduced protein levels; decreased function in snRNA 3'-end processing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000477747 rs777030573 VAR_078853 CA826593 |
173 | V>G | Pontocerebellar hypoplasia type 7 PCH7; reduced protein levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1647053042 RCV001266512 |
180 | L>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA826602 RCV002221842 rs752569685 |
182 | R>* | Pontocerebellar hypoplasia type 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000477732 VAR_078809 CA340139671 rs1570621473 |
220 | E>K | Pontocerebellar hypoplasia type 7 PCH7; reduced protein levels; decreased function in snRNA 3'-end processing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000851258 rs1570621555 CA340139752 |
231 | Y>* | Pontocerebellar hypoplasia type 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078854 | 231 | Y>del | PCH7 [UniProt] | Yes | UniProt |
|
VAR_078855 RCV000851256 CA826632 rs778263701 |
239 | F>S | Pontocerebellar hypoplasia type 7 PCH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA826676 rs368182654 RCV000851257 RCV002538360 VAR_078856 |
253 | R>W | Inborn genetic diseases Pontocerebellar hypoplasia type 7 PCH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1557531984 RCV000851252 CA340140762 |
313 | P>A | Pontocerebellar hypoplasia type 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477688 RCV000627613 rs780563835 |
314 | Q>missing | Pontocerebellar hypoplasia type 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_078857 rs758153898 RCV000477716 CA826744 |
319 | H>Q | Pontocerebellar hypoplasia type 7 PCH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000851254 VAR_078858 rs750266350 CA826742 |
319 | H>Y | Pontocerebellar hypoplasia type 7 PCH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001863211 rs140119746 RCV001330029 CA826789 |
387 | D>N | Pontocerebellar hypoplasia type 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000958454 CA826822 rs149059377 RCV001819016 RCV002502991 |
460 | P>L | Pontocerebellar hypoplasia type 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1442140372 CA340142118 RCV001871807 RCV001330030 |
480 | G>D | Pontocerebellar hypoplasia type 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1570626350 RCV000851259 CA340142220 VAR_078859 |
496 | S>F | Pontocerebellar hypoplasia type 7 PCH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA340137938 rs781609463 |
2 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748689064 CA089496 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA21846893 rs988145655 |
3 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340137975 rs1310672482 |
5 | S>I | No |
ClinGen gnomAD |
|
|
CA21846916 rs562733690 |
6 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs968086975 CA21846951 |
7 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1482974318 CA340138006 |
8 | G>D | No |
ClinGen gnomAD |
|
|
rs1305609192 CA340138017 |
9 | A>V | No |
ClinGen Ensembl |
|
|
rs1557519054 CA340138022 |
10 | V>L | No |
ClinGen Ensembl |
|
|
CA340138039 rs978180720 |
12 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs978180720 CA21846983 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1411312110 CA340138051 |
14 | A>V | No |
ClinGen gnomAD |
|
|
CA340138057 rs1235599924 |
15 | A>D | No |
ClinGen gnomAD |
|
|
CA089498 rs771315699 |
16 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1483936156 CA340138065 |
17 | D>Y | No |
ClinGen TOPMed |
|
|
rs1288398770 CA340138326 |
19 | G>V | No |
ClinGen gnomAD |
|
|
CA340138327 rs149814343 |
20 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826439 rs149814343 |
20 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826441 rs201286810 RCV000926105 |
25 | T>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA340138364 rs1447300611 |
25 | T>I | No |
ClinGen gnomAD |
|
|
rs201286810 CA826442 |
25 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148620104 CA826443 |
26 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368830139 CA340138369 |
26 | S>F | No |
ClinGen gnomAD |
|
|
CA21848116 rs148620104 |
26 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1472369149 CA340138375 |
27 | G>V | No |
ClinGen gnomAD |
|
|
rs1450483679 CA340138380 |
28 | E>G | No |
ClinGen TOPMed |
|
|
CA826445 rs778480203 |
33 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754389983 CA826446 RCV000945020 |
35 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1427018737 CA340138430 |
36 | V>A | No |
ClinGen TOPMed |
|
|
CA826448 rs140393352 |
36 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1336470011 CA340138432 |
37 | V>M | No |
ClinGen gnomAD |
|
|
rs746100347 CA826449 |
39 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780109174 CA826451 |
42 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA826452 rs747164687 |
43 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA340138487 rs1463214248 |
44 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1266924558 CA340138485 |
44 | F>S | No |
ClinGen gnomAD |
|
|
CA826453 rs768711721 |
45 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1256480364 CA340138498 |
46 | E>* | No |
ClinGen gnomAD |
|
|
rs951336672 CA21848184 |
47 | M>L | No |
ClinGen Ensembl |
|
|
rs776619867 CA826454 |
48 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs761675700 CA826455 |
49 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs778102902 CA826456 |
50 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1570605759 CA340138526 |
50 | S>P | No |
ClinGen Ensembl |
|
|
CA826461 rs762620637 |
53 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA340138553 rs1237469769 |
55 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77674037 CA21848241 |
63 | V>G | No |
ClinGen Ensembl |
|
|
CA21848245 rs74838031 |
64 | D>G | No |
ClinGen Ensembl |
|
|
CA340138620 rs1282609169 |
65 | T>A | No |
ClinGen TOPMed |
|
|
CA340138623 rs1557524547 |
65 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1488816130 CA340138677 |
72 | D>H | No |
ClinGen TOPMed |
|
|
rs1330063571 CA340138684 |
73 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276381737 CA340138694 |
74 | K>R | No |
ClinGen gnomAD |
|
|
rs1321290052 CA340138707 |
76 | L>V | No |
ClinGen TOPMed |
|
|
rs928531253 CA21848413 |
77 | L>P | No |
ClinGen TOPMed |
|
|
CA340138753 rs569937484 |
81 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA826509 rs142678648 |
81 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826508 rs569937484 |
81 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1045070784 CA21848555 |
82 | E>G | No |
ClinGen Ensembl |
|
|
CA340138770 rs1226259544 |
83 | E>D | No |
ClinGen gnomAD |
|
|
CA340138774 rs1433886134 |
84 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA826510 rs751886760 |
84 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21848576 rs751886760 |
84 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228695897 CA340138792 |
87 | A>T | No |
ClinGen gnomAD |
|
|
CA340138797 rs1311869771 |
87 | A>V | No |
ClinGen gnomAD |
|
|
rs1270080392 CA340138801 |
88 | V>A | No |
ClinGen gnomAD |
|
|
CA826514 rs756255978 |
88 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA826516 rs201659515 |
91 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA21848630 rs144432439 |
95 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA826518 rs757111560 |
95 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778870256 CA826519 |
97 | I>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 99 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412057657 CA340138891 |
103 | A>V | No |
ClinGen gnomAD |
|
|
rs1007156298 CA21848668 |
106 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340138918 rs1182388739 |
107 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340138917 rs1360570028 |
107 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA340138925 rs1302065731 |
108 | Q>L | No |
ClinGen gnomAD |
|
|
rs1199296680 CA340138934 |
109 | P>L | No |
ClinGen TOPMed |
|
|
CA340138931 rs1234401145 |
109 | P>S | No |
ClinGen gnomAD |
|
|
rs1288957544 CA340138947 |
111 | K>R | No |
ClinGen gnomAD |
|
|
rs1356416302 CA340138968 |
113 | E>K | No |
ClinGen TOPMed |
|
|
rs1247947380 CA340138977 |
114 | H>D | No |
ClinGen gnomAD |
|
|
rs141307727 CA826548 |
115 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826549 rs774908824 |
116 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs760026036 CA826550 |
117 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA826551 rs772476167 |
117 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340138997 rs772476167 |
117 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369807577 CA340139003 |
118 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1027958152 CA21849046 |
121 | F>L | No |
ClinGen Ensembl |
|
|
rs1351656219 CA340139027 |
122 | N>H | No |
ClinGen gnomAD |
|
|
CA340139030 rs1402207062 |
122 | N>S | No |
ClinGen TOPMed |
|
|
rs759648047 CA21849075 |
124 | T>S | No |
ClinGen Ensembl |
|
|
CA826556 rs764245073 |
126 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs776854887 CA826557 |
128 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230998945 CA340139073 |
129 | E>Q | No |
ClinGen gnomAD |
|
|
rs761803290 CA826559 |
131 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA340139101 rs1213295299 |
133 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292344450 CA340139160 |
141 | L>P | No |
ClinGen gnomAD |
|
|
rs765488396 CA21849112 |
142 | I>K | No |
ClinGen Ensembl |
|
| TCGA novel | 142 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 143 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451626707 CA340139211 |
148 | F>L | No |
ClinGen gnomAD |
|
|
CA21849121 rs1031399761 |
149 | N>D | No |
ClinGen gnomAD |
|
|
CA340139213 rs1031399761 |
149 | N>H | No |
ClinGen gnomAD |
|
|
RCV001053043 rs1465984343 CA340139222 |
150 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA826563 rs766313581 |
153 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340139250 rs751337774 |
154 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs751337774 CA826564 |
154 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs754748238 CA826565 |
155 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1570617724 CA340139265 |
156 | I>T | No |
ClinGen Ensembl |
|
|
rs747836131 CA826567 |
157 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA21849190 rs988317691 |
158 | Y>F | No |
ClinGen Ensembl |
|
|
CA826569 rs777244049 |
159 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1244675512 CA340139282 |
159 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746414904 CA826570 |
161 | G>C | No |
ClinGen ExAC gnomAD |
|
| rs1197716987 | 164 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1025568788 CA21849192 |
164 | K>M | No |
ClinGen Ensembl |
|
|
rs1237379875 CA340139337 |
165 | G>D | No |
ClinGen TOPMed |
|
|
CA826589 rs756699552 |
166 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031785220 CA21849521 |
166 | D>H | No |
ClinGen Ensembl |
|
|
rs780430714 CA826590 |
168 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747546453 CA826591 |
169 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1279063678 CA340139364 |
169 | Q>R | No |
ClinGen gnomAD |
|
|
rs1441675949 CA340139371 |
170 | S>N | No |
ClinGen gnomAD |
|
|
rs902862301 CA21849553 |
171 | Q>L | No |
ClinGen TOPMed |
|
|
rs145986883 CA340139394 |
174 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826595 rs769225253 |
174 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145986883 COSM910164 CA826594 |
174 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773514604 CA826596 |
175 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA340139397 rs773514604 |
175 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs763134006 CA826597 |
176 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA826598 rs771133822 |
177 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs774216136 CA340139415 |
178 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826599 rs774216136 |
178 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826603 rs760414433 |
182 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs980931587 CA21849621 |
183 | A>P | No |
ClinGen Ensembl |
|
|
rs763750237 CA826604 |
183 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA826605 rs533647558 |
184 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs267598623 CA826606 |
184 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535191956 CA826609 |
185 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA826608 rs767923015 |
185 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21849655 rs908541095 |
190 | H>Y | No |
ClinGen Ensembl |
|
|
rs142753932 CA826610 |
191 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781748718 CA21849674 |
192 | G>D | No |
ClinGen Ensembl |
|
|
CA826611 rs374271681 |
192 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770222170 CA826612 |
193 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377615673 CA826614 |
194 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826613 rs377615673 |
194 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs940085713 CA21849686 |
194 | I>V | No |
ClinGen Ensembl |
|
|
CA826615 rs770967324 |
196 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA340139597 rs1321197591 |
208 | P>L | No |
ClinGen TOPMed |
|
|
CA826620 rs760467874 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1323767734 CA340139608 |
210 | S>C | No |
ClinGen gnomAD |
|
|
CA826622 rs575022056 |
213 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA21849771 rs1049616324 |
216 | A>P | No |
ClinGen gnomAD |
|
|
rs1049616324 CA340139645 |
216 | A>S | No |
ClinGen gnomAD |
|
|
rs1049616324 CA340139644 |
216 | A>T | No |
ClinGen gnomAD |
|
|
rs761431701 CA826623 |
219 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276107461 COSM372090 CA340139678 |
221 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs963268111 CA21849787 |
222 | F>S | No |
ClinGen TOPMed |
|
|
CA340139694 rs1362281932 |
223 | P>A | No |
ClinGen TOPMed |
|
|
rs371271084 CA826625 |
224 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1479669939 CA340139716 |
226 | I>M | No |
ClinGen gnomAD |
|
|
CA21849799 rs904431918 |
227 | Y>H | No |
ClinGen Ensembl |
|
|
CA826627 rs757795522 |
232 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340139763 rs1433759708 |
233 | A>P | No |
ClinGen TOPMed |
|
|
CA826628 rs781727641 |
235 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs376295493 CA21849822 |
238 | R>C | No |
ClinGen gnomAD |
|
|
CA826630 rs756609909 |
238 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376295493 CA340139819 |
238 | R>S | No |
ClinGen gnomAD |
|
|
rs778955773 CA826635 |
240 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778955773 CA340139847 |
240 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826634 rs137896624 |
240 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826636 rs745974209 |
241 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1393167436 CA340139884 RCV000627345 |
245 | E>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA826638 rs775471846 |
249 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771979228 CA826637 RCV001339854 |
249 | R>W | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA340139931 rs1365630865 |
250 | K>Q | No |
ClinGen gnomAD |
|
|
rs754990755 CA826677 |
253 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826679 rs201020060 |
255 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA826681 rs769683097 |
256 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA826682 rs528350670 |
258 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749073430 CA826683 |
258 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340140202 rs144829269 |
259 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826685 rs144829269 |
259 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826684 rs201425549 |
259 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1370004909 CA340140204 |
260 | A>T | No |
ClinGen gnomAD |
|
|
CA21852037 rs993370420 |
260 | A>V | No |
ClinGen TOPMed |
|
|
CA340140222 rs1237679186 |
263 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA21852068 rs949740152 |
263 | S>R | No |
ClinGen gnomAD |
|
|
rs1346217366 CA340140253 |
267 | T>I | No |
ClinGen gnomAD |
|
|
rs1231231583 CA340140254 |
268 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1274352278 CA340140258 |
268 | L>R | No |
ClinGen gnomAD |
|
|
rs1231231583 CA340140255 |
268 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771704204 CA826687 |
269 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771704204 CA21852074 |
269 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201831784 CA340140277 |
271 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1201831784 CA340140276 |
271 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771785507 CA826688 |
273 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA826689 rs374307531 |
275 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21852079 rs374307531 |
275 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826690 rs561721650 |
276 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA826691 rs142271220 |
276 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340140315 rs763253226 |
277 | M>R | No |
ClinGen ExAC TOPMed |
|
|
rs763253226 CA826692 |
277 | M>T | No |
ClinGen ExAC TOPMed |
|
|
CA826694 rs751711273 |
282 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1338101119 CA736166324 |
283 | Y>* | No |
ClinGen TOPMed |
|
|
CA340140361 rs1570623249 |
283 | Y>S | No |
ClinGen Ensembl |
|
|
CA826695 rs755113478 |
284 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826696 rs192575433 |
284 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1286440335 CA340140388 |
286 | C>S | No |
ClinGen gnomAD |
|
|
CA340140420 rs1396853934 |
288 | P>L | No |
ClinGen gnomAD |
|
|
CA340140427 rs1441910329 |
289 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA826698 rs372284117 |
290 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340140480 rs1437766725 |
293 | R>C | No |
ClinGen gnomAD |
|
|
COSM910167 CA826701 rs749051888 |
293 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA826702 rs770784428 |
294 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA340140517 rs1291403356 |
296 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 296 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA826705 rs771756988 |
298 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770223379 CA826708 |
303 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562110457 CA21852140 |
304 | S>L | No |
ClinGen Ensembl |
|
|
CA522810510 rs1557531804 |
305 | A>A | No |
ClinGen Ensembl |
|
|
rs746513401 CA826726 |
305 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292966343 CA340140678 |
305 | A>V | No |
ClinGen TOPMed |
|
|
CA826727 rs531236536 |
306 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA340140721 rs1475538826 |
308 | W>* | No |
ClinGen gnomAD |
|
|
rs1557531929 CA340140735 |
309 | C>F | No |
ClinGen Ensembl |
|
|
rs201599186 CA826729 |
309 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA826730 rs566392020 |
309 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471276384 CA340140742 |
310 | P>A | No |
ClinGen gnomAD |
|
|
CA826733 rs759850221 |
311 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA340140754 rs759850221 |
311 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399349075 CA340140757 |
312 | G>E | No |
ClinGen gnomAD |
|
|
CA826734 rs767651165 |
312 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826737 rs555185290 |
314 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA826738 rs555185290 |
314 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340140774 rs1376599577 |
315 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200417902 CA826739 |
316 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA826740 rs757228874 |
317 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1444421201 CA340140797 |
318 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 319 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA826745 rs746665554 |
320 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340140824 COSM189324 rs1485295363 |
322 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA340140818 rs1280884674 |
322 | D>N | No |
ClinGen gnomAD |
|
|
rs1212477719 CA340140826 |
323 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA826746 rs754501887 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA826747 rs374613968 |
326 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA826748 rs747620591 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340140884 rs1182746752 |
330 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375841165 CA826749 |
331 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229916850 CA340140899 |
332 | A>T | No |
ClinGen TOPMed |
|
|
CA340140910 rs1175935143 |
333 | E>K | No |
ClinGen gnomAD |
|
|
CA340140958 rs1396128318 |
336 | R>Q | No |
ClinGen gnomAD |
|
|
CA826752 rs746239004 |
337 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826753 rs772481653 |
337 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764120526 CA826756 |
338 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA826755 rs373495451 |
338 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1262701120 CA340140980 |
339 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776880897 CA826758 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA826759 rs761932920 |
340 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913133121 CA21852488 COSM910168 |
340 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA826761 rs377665053 |
341 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_048752 CA826762 rs9429157 |
341 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs377665053 CA340140998 |
341 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766179163 CA340141042 |
344 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs751217093 CA826764 |
345 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826766 rs780777376 |
349 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1253987621 CA340141114 |
350 | L>S | No |
ClinGen gnomAD |
|
|
rs1045334636 CA21852559 |
352 | L>P | No |
ClinGen Ensembl |
|
|
CA826770 rs145913038 COSM1502887 |
353 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA21852576 rs145913038 |
353 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21852584 rs977540571 |
354 | G>E | No |
ClinGen TOPMed |
|
|
rs747294274 CA340141166 |
355 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442605172 CA340141174 |
355 | T>R | No |
ClinGen gnomAD |
|
|
CA826773 rs747294274 |
355 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340141213 rs1329339606 |
358 | S>F | No |
ClinGen TOPMed |
|
|
rs1326225599 CA340141205 |
358 | S>P | No |
ClinGen gnomAD |
|
|
CA826774 rs768943130 |
360 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs887558030 CA21852599 |
361 | A>V | No |
ClinGen Ensembl |
|
|
rs761987910 CA826776 |
363 | D>N | No |
ClinGen ExAC |
|
|
rs150092925 CA826778 |
366 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145181924 CA826777 |
366 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340141319 rs1172619364 |
367 | K>R | No |
ClinGen TOPMed |
|
|
rs897395395 CA21852607 |
368 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340141358 rs1470111012 |
370 | V>I | No |
ClinGen TOPMed |
|
|
rs1165043878 CA340141369 |
371 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs916204679 CA21852609 |
372 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762923029 CA826779 |
372 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279979607 CA340141408 |
374 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 374 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264367211 CA340141457 |
380 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1029633412 CA21852641 |
381 | E>D | No |
ClinGen Ensembl |
|
|
RCV001821436 rs61323219 VAR_061109 CA826784 RCV000514282 |
381 | E>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA340141458 rs61323219 |
381 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA826785 rs755679309 |
383 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1370816487 CA340141475 |
383 | E>G | No |
ClinGen gnomAD |
|
|
rs750935885 CA826787 |
384 | V>G | No |
ClinGen ExAC |
|
|
CA826786 rs201240015 |
384 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758976322 CA826788 |
385 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1381549110 CA340141499 |
387 | D>E | No |
ClinGen gnomAD |
|
|
rs144714540 CA826790 |
387 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826791 rs769075064 |
388 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA340141508 rs1338458440 |
389 | T>A | No |
ClinGen gnomAD |
|
|
CA340141513 rs1294069423 |
390 | R>G | No |
ClinGen gnomAD |
|
|
rs1570625291 CA340141531 |
392 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 392 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340141554 rs1415054427 |
396 | K>E | No |
ClinGen TOPMed |
|
|
CA826795 rs143275600 |
396 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261690303 CA340141560 |
397 | Q>* | No |
ClinGen gnomAD |
|
|
rs1156359455 CA340141575 |
399 | N>H | No |
ClinGen TOPMed |
|
|
CA826797 rs762898999 |
399 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs200559806 CA21852687 |
401 | N>S | No |
ClinGen TOPMed |
|
|
CA826799 rs774091647 |
402 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1474020496 CA340141618 |
405 | M>L | No |
ClinGen gnomAD |
|
|
CA340141643 rs1160891793 |
408 | K>T | No |
ClinGen gnomAD |
|
|
CA826802 rs770607416 |
413 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA826803 rs767287837 |
414 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA826804 rs775172627 |
415 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1415385963 CA340141703 |
417 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340141709 rs1257283126 |
418 | A>T | No |
ClinGen TOPMed |
|
|
CA826805 rs369467934 |
420 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826806 rs763697275 |
421 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA826807 rs150353603 |
422 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756661865 CA826808 |
425 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21852778 rs76384173 |
426 | Q>K | No |
ClinGen Ensembl |
|
|
CA340141758 rs1317851414 |
426 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1294014918 CA340141779 |
429 | P>R | No |
ClinGen gnomAD |
|
|
rs775672641 CA826810 |
429 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826812 rs781670285 |
433 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781670285 CA340141801 |
433 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340141807 rs1233652867 CA340141806 |
434 | G>R | No |
ClinGen TOPMed |
|
|
CA340141819 rs1256160995 |
435 | D>E | No |
ClinGen gnomAD |
|
|
CA21852780 rs200394564 |
437 | L>F | No |
ClinGen 1000Genomes |
|
|
rs1357042260 CA340141834 |
438 | H>Y | No |
ClinGen TOPMed |
|
|
CA340141841 rs756434189 |
439 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs756434189 CA826814 |
439 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs377031691 CA826813 |
439 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340141851 rs1418230263 |
441 | G>S | No |
ClinGen gnomAD |
|
|
rs777803651 CA826815 |
444 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA826816 rs547171031 |
447 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435224578 CA340141909 |
449 | Y>C | No |
ClinGen gnomAD |
|
|
rs199544184 CA21852828 |
450 | V>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA340141916 rs199544184 |
450 | V>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1345287998 CA340141923 |
451 | M>I | No |
ClinGen TOPMed |
|
|
CA340141935 rs1300042760 |
453 | Y>C | No |
ClinGen gnomAD |
|
|
rs1300042760 CA340141936 |
453 | Y>F | No |
ClinGen gnomAD |
|
|
rs774409257 CA826818 |
453 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA826819 rs745783538 |
455 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340141957 rs1570625914 |
456 | V>G | No |
ClinGen Ensembl |
|
|
rs1391101963 CA340141952 |
456 | V>M | No |
ClinGen gnomAD |
|
|
rs775296069 CA826821 |
458 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1404125625 CA340141973 |
459 | G>R | No |
ClinGen TOPMed |
|
|
rs149059377 CA340141981 |
460 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA21852854 rs960482209 |
460 | P>S | No |
ClinGen TOPMed |
|
|
rs1309894060 CA340141987 |
461 | Q>R | No |
ClinGen gnomAD |
|
|
CA340141998 rs1557533261 |
463 | C>R | No |
ClinGen Ensembl |
|
|
rs1255017204 CA340142005 |
464 | S>R | No |
ClinGen gnomAD |
|
|
CA340142016 rs1480103993 |
465 | S>C | No |
ClinGen gnomAD |
|
|
rs761453161 CA826825 |
465 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA21852861 rs936988466 |
466 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs764639526 CA826826 |
467 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1454564411 CA340142031 |
468 | W>* | No |
ClinGen gnomAD |
|
|
rs1172888512 CA340142038 |
469 | L>F | No |
ClinGen gnomAD |
|
|
CA340142053 rs970320623 |
471 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA21852872 rs970320623 |
471 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1467120920 CA340142063 |
472 | C>W | No |
ClinGen TOPMed |
|
|
CA340142061 rs1172610502 |
472 | C>Y | No |
ClinGen gnomAD |
|
|
CA21852884 rs984450292 |
473 | H>Y | No |
ClinGen Ensembl |
|
|
CA340142075 rs1419413327 |
474 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA340142074 rs1419413327 |
474 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA826828 rs755506126 |
476 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1373585551 CA340142104 |
478 | L>W | No |
ClinGen gnomAD |
|
|
rs1213654401 CA340142107 |
479 | S>R | No |
ClinGen TOPMed |
|
|
CA826832 rs528828130 |
482 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528828130 CA826831 |
482 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340142137 rs1366094716 |
483 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340142140 rs1426210518 |
484 | P>S | No |
ClinGen gnomAD |
|
|
CA21852918 rs145155059 |
485 | L>F | No |
ClinGen ESP |
|
|
rs1271465825 CA340142187 |
491 | Q>P | No |
ClinGen TOPMed |
|
|
rs372704059 CA826835 |
494 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA826836 rs745910227 |
494 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21852925 rs745910227 |
494 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340142213 rs1353134419 |
495 | S>F | No |
ClinGen TOPMed |
|
|
CA826837 rs772021387 |
497 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA826838 rs775346999 |
500 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746809406 CA340142263 |
502 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21852943 rs934200836 |
503 | M>L | No |
ClinGen Ensembl |
|
|
rs1189606372 CA340142287 |
506 | T>P | No |
ClinGen TOPMed |
|
|
CA340142313 rs1374580311 |
509 | S>I | No |
ClinGen gnomAD |
|
|
rs776403161 CA826841 |
511 | S>S | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q96GM8
[MIM: 614969]: Pontocerebellar hypoplasia 7 (PCH7)
A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. {ECO:0000269|PubMed:28092684}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. {ECO:0000269|PubMed:28092684}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q96GM8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, CCCH-type | 294 - 322 | IPR000571 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cajal body | A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5'-exoribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule. |
| metal ion binding | Binding to a metal ion. |
| poly(A)-specific ribonuclease activity | Catalysis of the exonucleolytic cleavage of poly(A) to 5'-AMP. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| snRNA binding | Binding to a small nuclear RNA (snRNA). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| RNA phosphodiester bond hydrolysis, exonucleolytic | The chemical reactions and pathways involving the hydrolysis of terminal 3',5'-phosphodiester bonds in one or two strands of ribonucleotides. |
| snRNA 3'-end processing | Any process involved in forming the mature 3' end of an snRNA molecule. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q17QN2 | TOE1 | Target of EGR1 protein 1 | Bos taurus (Bovine) | PR |
| O95453 | PARN | Poly(A)-specific ribonuclease PARN | Homo sapiens (Human) | PR |
| Q6YYA3 | Os08g0360100 | Chloroplastic group IIA intron splicing facilitator CRS1, chloroplastic | Oryza sativa subsp japonica (Rice) | PR |
| Q9LF10 | At5g16180 | Chloroplastic group IIA intron splicing facilitator CRS1, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAADSDDGAV | SAPAASDGGV | SKSTTSGEEL | VVQVPVVDVQ | SNNFKEMWPS | LLLAIKTANF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VAVDTELSGL | GDRKSLLNQC | IEERYKAVCH | AARTRSILSL | GLACFKRQPD | KGEHSYLAQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FNLTLLCMEE | YVIEPKSVQF | LIQHGFNFNQ | QYAQGIPYHK | GNDKGDESQS | QSVRTLFLEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IRARRPLVLH | NGLIDLVFLY | QNFYAHLPES | LGTFTADLCE | MFPAGIYDTK | YAAEFHARFV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASYLEYAFRK | CERENGKQRA | AGSPHLTLEF | CNYPSSMRDH | IDYRCCLPPA | THRPHPTSIC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DNFSAYGWCP | LGPQCPQSHD | IDLIIDTDEA | AAEDKRRRRR | RREKRKRALL | NLPGTQTSGE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AKDGPPKKQV | CGDSIKPEET | EQEVAADETR | NLPHSKQGNK | NDLEMGIKAA | RPEIADRATS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EVPGSQASPN | PVPGDGLHRA | GFDAFMTGYV | MAYVEVSQGP | QPCSSGPWLP | ECHNKVYLSG |
| 490 | 500 | ||||
| KAVPLTVAKS | QFSRSSKAHN | QKMKLTWGSS |