O75558
PR
Gene name |
STX11 |
Protein name |
Syntaxin-11 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8676 |
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
1 structures for O75558
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75558-F1 | Predicted | AlphaFoldDB |
349 variants for O75558
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001056771 CA4031591 rs754278775 |
3 | D>E | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375610231 RCV002545056 RCV001313414 CA4031593 |
4 | R>L | Familial hemophagocytic lymphohistiocytosis 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4031594 RCV001222778 rs375610231 |
4 | R>Q | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1802044231 RCV001320875 |
6 | A>V | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796650 rs34470310 CA4031600 |
9 | L>P | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001576304 RCV000644577 rs34470310 CA4031599 |
9 | L>R | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002263648 RCV000692657 RCV000269130 rs760492745 |
9 | L>missing | Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 4 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317152 rs1802044955 |
12 | S>A | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773008640 RCV001302240 CA4031603 |
16 | D>N | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs375091661 RCV001207082 CA149823918 |
22 | G>R | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs766958562 RCV001239869 CA4031608 |
23 | D>N | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4031612 rs143547259 RCV000908172 |
28 | S>L | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373333798 RCV000801994 CA4031623 |
36 | E>Q | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4031627 RCV000801123 rs760218913 |
38 | D>E | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA365948606 rs1394376432 RCV001237664 |
46 | R>G | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs17073498 RCV000241640 VAR_029769 RCV000557610 CA4031636 RCV002262882 |
49 | R>Q | Familial hemophagocytic lymphohistiocytosis 4 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749246568 CA4031639 RCV001065628 |
53 | D>N | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374584215 RCV001239148 CA4031640 |
55 | N>S | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs431905512 CA267503 RCV000083252 RCV001269565 |
58 | L>P | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA365948701 RCV000809772 rs1267402375 |
61 | D>H | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs764192301 RCV000320630 CA4031654 |
72 | F>L | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002264117 CA4031655 RCV000973692 COSM1672809 rs540150447 |
74 | T>M | large_intestine Familial hemophagocytic lymphohistiocytosis 4 Autoinflammatory syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4031656 rs141487068 RCV001152479 |
76 | M>I | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001007610 CA365948794 rs1317570206 |
76 | M>T | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA149823930 rs979857096 RCV001037650 |
93 | I>V | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs371402170 RCV000698709 CA4031669 |
94 | K>R | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040614 rs1242174048 CA365948923 |
97 | G>S | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1449481982 RCV001048397 COSM3777161 CA365948930 |
98 | E>K | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 4 urinary_tract [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4031673 RCV001297761 rs761875800 |
107 | M>V | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs483352901 RCV001269556 RCV000005579 |
124 | V>missing | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4031689 RCV000820691 rs763273407 |
124 | V>M | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001243500 rs765377730 CA4031692 |
127 | I>V | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA275513 rs794729649 RCV000185559 |
131 | Q>* | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs367778856 CA365949139 RCV000804713 |
131 | Q>L | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4031702 RCV000820410 rs748690313 |
135 | L>F | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA365949163 rs759002869 RCV001346521 |
135 | L>P | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4031707 rs776931152 RCV000285305 |
143 | M>V | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs149492643 CA4031710 RCV001241178 |
144 | H>Q | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4031711 rs527278192 RCV000798728 |
145 | D>H | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4031718 COSM72842 rs763642990 RCV001300452 |
155 | D>N | ovary Variant assessed as Somatic; 0.0 impact. large_intestine Familial hemophagocytic lymphohistiocytosis 4 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs781537476 RCV001044797 CA4031724 |
176 | Q>R | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001234132 rs1802072127 |
179 | D>G | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000987797 rs1584062332 |
194 | L>missing | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4031735 RCV001047181 rs371929203 |
194 | L>R | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs141499372 CA4031738 RCV002263649 RCV002058559 RCV000644578 |
197 | V>M | Familial hemophagocytic lymphohistiocytosis 4 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA365949605 rs1159549216 RCV000791832 |
201 | R>L | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001152481 rs771215498 CA4031747 |
205 | N>S | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4031748 RCV000509480 RCV001584124 RCV000454862 rs145347140 RCV000779494 |
206 | E>K | Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1279778517 CA365949671 RCV001153753 |
212 | R>C | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1802079651 RCV001232241 |
213 | E>Q | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801864 rs140982644 CA4031757 |
220 | R>L | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554294411 CA365949737 RCV000644576 |
223 | D>A | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237405 rs1802082989 |
226 | E>A | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214820 rs757611316 CA4031765 |
229 | L>W | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064279 rs1802083833 |
231 | M>T | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel RCV001347382 rs1159227535 |
232 | A>V | Familial hemophagocytic lymphohistiocytosis 4 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001069827 rs765907508 CA4031777 |
248 | N>S | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001064061 rs555738896 CA4031779 |
249 | V>I | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001209426 rs758653019 |
255 | Y>S | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562671483 CA365950073 RCV000703535 |
256 | T>S | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323590 CA4031788 rs574011092 |
257 | G>D | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000551253 RCV001172178 RCV002262884 CA4031793 rs45574234 RCV000252800 |
267 | V>M | Familial hemophagocytic lymphohistiocytosis 4 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA253453 rs104893996 RCV000005581 |
268 | Q>* | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs751291364 RCV001223547 |
271 | E>missing | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303204 rs1409098325 |
272 | K>missing | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000244807 rs9496891 RCV000527188 CA4031802 VAR_029770 RCV002262885 |
277 | T>A | Familial hemophagocytic lymphohistiocytosis 4 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000644580 CA4031804 RCV001766383 rs34282765 |
280 | C>Y | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4031805 RCV001207390 rs560006390 RCV002222675 |
281 | F>C | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001243140 rs1175891876 CA365950281 |
288 | K>W | Familial hemophagocytic lymphohistiocytosis 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1209027875 CA365948332 |
2 | K>E | No |
ClinGen gnomAD |
|
|
rs757734793 CA4031592 |
4 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA365948351 rs1257459652 |
5 | L>P | No |
ClinGen gnomAD |
|
|
CA4031595 rs758706076 |
6 | A>T | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201888313 CA4031596 |
7 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747149545 CA4031598 |
8 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365948370 rs1410074175 |
9 | L>V | No |
ClinGen gnomAD |
|
|
CA365948398 rs1343506662 |
13 | K>R | No |
ClinGen TOPMed |
|
|
CA365948418 rs773008640 |
16 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031604 rs527359422 |
17 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs892078817 CA149823916 |
18 | Q>L | No |
ClinGen Ensembl |
|
|
rs892078817 CA365948435 |
18 | Q>R | No |
ClinGen Ensembl |
|
|
rs770639837 CA4031605 |
20 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4031606 rs773963606 |
21 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs149176821 CA149823917 CA4031607 |
21 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375091661 CA365948457 |
22 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775026131 CA4031609 |
23 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs762230591 CA4031610 |
24 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1184467972 CA365948476 |
25 | E>* | No |
ClinGen gnomAD |
|
|
CA149823919 rs756431166 |
25 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs548646794 CA4031611 |
26 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1200757252 CA365948496 |
27 | D>E | No |
ClinGen TOPMed |
|
|
CA365948489 rs1429076423 |
27 | D>N | No |
ClinGen TOPMed |
|
|
rs143547259 CA4031613 |
28 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751806887 CA365948512 CA4031616 |
30 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148043562 CA4031614 |
30 | H>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4031617 rs1802414 |
31 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_011995 CA149823921 rs1802414 |
31 | E>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs756068979 CA4031619 |
33 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1374801969 CA365948528 |
33 | I>V | No |
ClinGen gnomAD |
|
|
CA365948534 rs777686678 |
34 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4031620 rs777686678 |
34 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1390522168 CA365948539 |
35 | F>L | No |
ClinGen gnomAD |
|
|
rs745538995 CA4031624 |
36 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4031625 rs771687230 |
37 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1018799133 CA149823922 |
39 | H>D | No |
ClinGen Ensembl |
|
|
rs765910924 CA4031628 |
39 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4031631 rs766869715 |
41 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751929025 CA4031632 |
41 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs755172979 CA4031633 |
42 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1390919444 CA365948588 |
43 | S>P | No |
ClinGen TOPMed |
|
|
rs1191535350 CA365948593 |
44 | L>M | No |
ClinGen gnomAD |
|
|
CA365948608 rs767769324 |
46 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767769324 CA4031634 |
46 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919116181 CA149823923 |
48 | I>V | No |
ClinGen TOPMed |
|
|
CA365948624 rs1405794685 |
49 | R>G | No |
ClinGen TOPMed |
|
|
CA365948625 rs1405794685 |
49 | R>W | No |
ClinGen TOPMed |
|
|
CA365948629 rs1410418649 |
50 | D>N | No |
ClinGen TOPMed |
|
|
CA365948654 rs1439132422 |
53 | D>G | No |
ClinGen gnomAD |
|
|
CA365948662 rs1270321979 |
54 | E>G | No |
ClinGen gnomAD |
|
|
rs778685429 CA4031641 |
55 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374584215 CA365948669 |
55 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4031642 rs745617077 |
57 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA365948696 rs1245903601 |
60 | A>S | No |
ClinGen Ensembl |
|
|
CA4031643 rs779751917 |
60 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031645 rs374922198 |
61 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4031646 rs776227989 |
62 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA149823925 rs1030221716 |
63 | K>E | No |
ClinGen Ensembl |
|
|
CA4031648 rs771495505 |
64 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204079066 CA365948719 |
64 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA365948727 rs1417334704 |
66 | G>R | No |
ClinGen gnomAD |
|
|
rs569409574 CA4031651 |
67 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4031650 rs759943002 |
67 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4031652 rs752945709 |
69 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA365948762 rs1325635503 |
71 | R>C | No |
ClinGen gnomAD |
|
|
CA149823929 rs138767842 |
71 | R>H | No |
ClinGen ESP gnomAD |
|
|
CA365948778 rs1584060885 |
74 | T>S | No |
ClinGen Ensembl |
|
|
CA365948787 rs1238293201 |
75 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365948799 rs1315022115 |
77 | R>P | No |
ClinGen gnomAD |
|
|
rs778807808 CA4031657 COSM1074095 |
77 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs750251474 CA4031658 |
78 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs750251474 CA365948805 |
78 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4031659 rs573249154 |
79 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA4031661 rs746692325 |
80 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4031663 rs574127091 |
83 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4031664 rs747650510 |
84 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365948849 rs1485526654 |
85 | D>A | No |
ClinGen gnomAD |
|
|
rs1584061035 CA365948854 |
86 | T>P | No |
ClinGen Ensembl |
|
|
CA4031665 rs771634798 |
87 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365948863 rs771634798 |
87 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383387293 CA365948893 |
92 | A>T | No |
ClinGen TOPMed |
|
|
CA149823931 rs927072949 |
93 | I>M | No |
ClinGen Ensembl |
|
|
rs371402170 CA365948908 |
94 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4031670 rs760894653 |
97 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1449481982 CA365948928 |
98 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA365948962 rs1232786044 |
102 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259459001 CA365948983 |
105 | R>P | No |
ClinGen TOPMed |
|
|
CA365948990 rs761875800 |
107 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA365948994 rs1281969509 |
107 | M>R | No |
ClinGen gnomAD |
|
|
CA365949006 rs1446340815 |
109 | E>K | No |
ClinGen gnomAD |
|
|
CA4031675 rs750351134 |
110 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4031674 rs765127827 |
110 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562714690 CA365949031 |
112 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs902066692 CA149823933 |
112 | E>K | No |
ClinGen TOPMed |
|
|
rs779925697 CA4031677 |
113 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365949036 rs779925697 |
113 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470979736 CA365949039 |
114 | A>S | No |
ClinGen gnomAD |
|
|
CA4031681 rs780990510 |
115 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4031679 rs577827394 |
115 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755668209 CA4031682 |
116 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4031683 rs777103066 |
116 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365949060 rs1374196194 |
117 | Q>H | No |
ClinGen gnomAD |
|
|
rs1243887415 CA365949057 |
117 | Q>R | No |
ClinGen TOPMed |
|
|
rs866658690 CA149823934 |
119 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA365949069 rs866658690 |
119 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA149823935 COSM3662177 rs866658690 |
119 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4031685 rs746418444 |
120 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746418444 CA4031686 |
120 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1279200301 CA365949090 |
122 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345698016 CA365949105 |
125 | A>E | No |
ClinGen gnomAD |
|
|
rs1209486237 CA365949113 |
126 | R>L | No |
ClinGen gnomAD |
|
|
rs1231989334 CA365949129 |
129 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1231989334 CA365949128 |
129 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs369572255 CA4031694 |
129 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478533410 CA365949132 |
130 | A>S | No |
ClinGen gnomAD |
|
|
CA365949130 rs1478533410 |
130 | A>T | No |
ClinGen gnomAD |
|
|
CA365949138 rs367778856 |
131 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367778856 CA4031696 |
131 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754792321 CA4031697 |
132 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4031699 rs752423635 |
133 | N>D | No |
ClinGen ExAC |
|
|
CA4031700 rs755682422 |
133 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031701 rs777341537 |
134 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365949159 rs777341537 |
134 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759002869 CA4031703 |
135 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768684835 CA149823937 |
136 | T>S | No |
ClinGen Ensembl |
|
|
rs372281269 CA149823938 |
137 | L>F | No |
ClinGen ESP |
|
|
rs376823182 CA149823939 |
139 | F>L | No |
ClinGen ESP gnomAD |
|
|
CA365949191 rs1233403643 |
140 | Q>R | No |
ClinGen gnomAD |
|
|
rs747411833 CA4031705 |
141 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031708 rs137981428 |
143 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769837668 CA4031709 |
144 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs527278192 CA149823942 |
145 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365949222 rs1454116408 |
145 | D>V | No |
ClinGen gnomAD |
|
|
CA365949219 rs527278192 |
145 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774411743 CA4031713 |
147 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA365949247 rs1281896626 |
148 | Q>H | No |
ClinGen TOPMed |
|
|
CA4031716 rs767456000 |
150 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1391680487 CA365949263 |
151 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA4031717 rs755804523 |
153 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA149823943 rs369464977 |
153 | Q>K | No |
ClinGen ESP gnomAD |
|
|
rs753452811 CA4031719 |
156 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554294339 RCV000596819 |
158 | K>missing | No |
ClinVar dbSNP |
|
|
rs548273763 CA149823944 |
158 | K>E | No |
ClinGen Ensembl |
|
|
CA365949317 rs1328183637 |
158 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756690270 CA4031720 |
159 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA149823945 rs865966109 COSM170297 |
160 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1269148196 CA365949325 |
160 | R>S | No |
ClinGen gnomAD |
|
|
rs1292608555 CA365949338 |
162 | Q>* | No |
ClinGen gnomAD |
|
|
rs780587217 CA4031721 |
163 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA149823946 TCGA novel rs1016618459 |
164 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA4031723 rs755434275 |
166 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA149823947 rs963071982 |
166 | E>A | No |
ClinGen Ensembl |
|
|
CA365949372 rs1206114568 |
167 | I>T | No |
ClinGen gnomAD |
|
|
rs1425553178 CA365949381 |
168 | M>I | No |
ClinGen TOPMed |
|
|
CA365949413 rs1480102018 |
173 | S>P | No |
ClinGen TOPMed |
|
|
rs144325596 CA149823949 |
174 | G>R | No |
ClinGen ESP |
|
|
CA149823951 rs867882515 |
175 | D>N | No |
ClinGen gnomAD |
|
|
CA365949424 rs867882515 |
175 | D>Y | No |
ClinGen gnomAD |
|
|
CA365949450 rs1417446937 |
178 | E>D | No |
ClinGen gnomAD |
|
|
CA4031725 rs748450693 |
178 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA365949465 rs1460712958 |
180 | M>I | No |
ClinGen gnomAD |
|
|
rs984594291 CA365949477 |
182 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs984594291 CA149823952 |
182 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs984594291 CA365949476 |
182 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs927025661 CA149823953 |
183 | Q>H | No |
ClinGen Ensembl |
|
|
CA4031728 rs201639250 |
186 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA149823954 rs868360866 |
190 | S>F | No |
ClinGen Ensembl |
|
|
CA365949539 rs1196644594 |
191 | E>K | No |
ClinGen TOPMed |
|
|
CA4031733 rs775485389 |
192 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031734 rs760385256 |
193 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA365949569 rs1349141815 |
195 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365949576 rs933545270 COSM3948105 |
196 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1258867894 CA365949571 |
196 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1258867894 CA365949570 COSM740751 |
196 | D>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA365949572 rs1258867894 |
196 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs141499372 CA4031739 |
197 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4031741 rs140190138 |
200 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 201 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365949601 rs1419969488 |
201 | R>G | No |
ClinGen gnomAD |
|
|
rs1159549216 CA365949604 |
201 | R>P | No |
ClinGen gnomAD |
|
|
rs753170513 CA4031743 |
203 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs753170513 CA4031744 |
203 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA365949614 COSM1440924 rs1451363237 |
203 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1133248 CA149823957 VAR_011996 |
204 | L>H | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs1133248 CA4031745 |
204 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1409779494 CA365949625 |
205 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365949635 rs1429936691 |
207 | I>V | No |
ClinGen TOPMed |
|
|
rs1334311048 CA365949641 |
208 | E>Q | No |
ClinGen gnomAD |
|
|
rs1238811811 CA365949655 |
209 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745930320 CA4031749 |
210 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs540065111 CA4031751 |
211 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365949669 rs1279778517 |
212 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1584062686 CA365949692 |
215 | L>R | No |
ClinGen Ensembl |
|
|
rs151047913 CA365949694 |
216 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs151047913 CA4031752 |
216 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776446292 CA4031754 |
217 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4031756 rs764809447 |
218 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265572393 CA365949702 |
218 | E>Q | No |
ClinGen TOPMed |
|
|
CA365949718 rs1347888298 |
220 | R>G | No |
ClinGen TOPMed |
|
|
rs762442897 CA4031758 |
222 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1462052525 CA365949735 |
223 | D>H | No |
ClinGen gnomAD |
|
|
rs149806735 CA4031760 |
224 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365949743 rs149806735 |
224 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365949753 rs756608402 |
225 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365949751 rs1391152639 |
225 | H>R | No |
ClinGen gnomAD |
|
|
CA365949749 rs1393946856 |
225 | H>Y | No |
ClinGen gnomAD |
|
|
CA365949755 rs1373811032 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554294422 RCV000657253 |
230 | Q>missing | No |
ClinVar dbSNP |
|
|
rs779275340 CA4031766 |
230 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365949792 rs1197769226 |
231 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365949791 rs1197769226 |
231 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365949804 rs1159227535 |
232 | A>E | No |
ClinGen TOPMed |
|
|
rs1455429648 CA365949809 |
233 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1424404410 CA365949814 |
234 | L>P | No |
ClinGen gnomAD |
|
|
CA365949815 rs1424404410 |
234 | L>R | No |
ClinGen gnomAD |
|
|
CA365949838 rs1226794684 |
237 | K>E | No |
ClinGen gnomAD |
|
|
rs758527654 CA4031768 |
237 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA365949852 rs1462020184 |
238 | Q>E | No |
ClinGen TOPMed |
|
|
CA365949869 rs1171954871 |
239 | A>V | No |
ClinGen gnomAD |
|
|
CA4031770 rs746950664 |
240 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1496185 rs372938807 CA149823959 |
240 | D>N | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA4031771 rs768571325 |
241 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs768571325 CA365949890 |
241 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA365949904 rs1325760933 |
242 | L>Q | No |
ClinGen gnomAD |
|
|
rs1293601520 CA365949934 |
244 | V>A | No |
ClinGen gnomAD |
|
|
rs1216369379 CA365949924 |
244 | V>F | No |
ClinGen gnomAD |
|
|
CA4031774 rs375645683 |
245 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762546864 CA4031776 |
246 | E>G | No |
ClinGen ExAC |
|
|
rs1469614986 CA365949949 |
246 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1469614986 CA365949951 |
246 | E>Q | No |
ClinGen gnomAD |
|
|
rs867901339 CA149823961 |
247 | L>I | No |
ClinGen Ensembl |
|
|
rs1282859204 CA365949971 |
247 | L>P | No |
ClinGen TOPMed |
|
|
CA365949985 rs765907508 |
248 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA4031780 rs764649306 |
249 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA4031778 rs555738896 |
249 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4031781 rs754223770 |
250 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs757666482 CA4031782 |
250 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031783 rs765607265 |
253 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 254 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758653019 CA4031785 |
255 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs959752203 CA149823963 |
256 | T>A | No |
ClinGen Ensembl |
|
|
rs1287643686 CA365950075 |
257 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1415508025 CA365950082 |
258 | Q>* | No |
ClinGen gnomAD |
|
|
rs781182049 CA4031789 |
259 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4031790 rs747974365 |
260 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4031791 rs538354380 |
261 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772953718 CA4031792 |
262 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1584063449 CA365950117 |
263 | V>G | No |
ClinGen Ensembl |
|
|
rs1240320915 CA365950112 |
263 | V>M | No |
ClinGen gnomAD |
|
|
rs1474057440 CA365950145 |
268 | Q>R | No |
ClinGen gnomAD |
|
|
CA365950151 rs1482046086 |
269 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs527833711 CA4031796 COSM137471 |
270 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA365950181 rs1402811113 |
273 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA365950183 rs1584063571 |
273 | N>T | No |
ClinGen Ensembl |
|
|
rs765169697 CA4031797 |
275 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031801 rs762359713 COSM1545193 |
276 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4031800 rs762359713 |
276 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365950202 rs762359713 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4031799 rs140455947 |
276 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365950203 rs9496891 |
277 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1280368486 CA365950221 |
279 | C>W | No |
ClinGen gnomAD |
|
|
rs1225280944 CA365950230 |
281 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210970210 CA365950250 |
283 | C>W | No |
ClinGen gnomAD |
|
|
CA4031807 rs368785992 |
283 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1281911391 CA365950254 |
284 | P>H | No |
ClinGen gnomAD |
|
|
rs1186320128 CA365950258 |
285 | C>R | No |
ClinGen gnomAD |
|
|
CA365950260 rs1321958193 |
285 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 285 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4031809 rs752664282 |
286 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA365950269 rs1584063827 |
286 | L>R | No |
ClinGen Ensembl |
|
|
CA365950279 rs755980161 |
288 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | K>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4031810 rs755980161 |
288 | K>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with O75558
[MIM: 603552]: Hemophagocytic lymphohistiocytosis, familial, 4 (FHL4)
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO:0000269|PubMed:15703195}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO:0000269|PubMed:15703195}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for O75558
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| 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. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic active zone membrane | The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters. |
| SNARE complex | A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| SNAP receptor activity | Acting as a marker to identify a membrane and interacting selectively with one or more SNAREs on another membrane to mediate membrane fusion. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| membrane fusion | The membrane organization process that joins two lipid bilayers to form a single membrane. |
| synaptic vesicle fusion to presynaptic active zone membrane | Fusion of the membrane of a synaptic vesicle with the presynaptic active zone membrane, thereby releasing its cargo neurotransmitters into the synaptic cleft. |
| vesicle docking | The initial attachment of a transport vesicle membrane to the target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane. Docking requires only that the two membranes come close enough for these proteins to interact and adhere. |
| vesicle fusion | Fusion of the membrane of a transport vesicle with its target membrane. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32867 | SSO1 | Protein SSO1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P39926 | SSO2 | Protein SSO2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3SWZ3 | STX4 | Syntaxin-4 | Bos taurus (Bovine) | PR |
| P61267 | STX1B | Syntaxin-1B | Bos taurus (Bovine) | PR |
| Q7KVY7 | Syx4 | Syntaxin-4 | Drosophila melanogaster (Fruit fly) | PR |
| Q24547 | Syx1A | Syntaxin-1A | Drosophila melanogaster (Fruit fly) | PR |
| Q12846 | STX4 | Syntaxin-4 | Homo sapiens (Human) | PR |
| P61266 | STX1B | Syntaxin-1B | Homo sapiens (Human) | PR |
| Q16623 | STX1A | Syntaxin-1A | Homo sapiens (Human) | PR |
| O15400 | STX7 | Syntaxin-7 | Homo sapiens (Human) | PR |
| O35526 | Stx1a | Syntaxin-1A | Mus musculus (Mouse) | PR |
| Q00262 | Stx2 | Syntaxin-2 | Mus musculus (Mouse) | PR |
| P70452 | Stx4 | Syntaxin-4 | Mus musculus (Mouse) | PR |
| P61264 | Stx1b | Syntaxin-1B | Mus musculus (Mouse) | PR |
| Q9D3G5 | Stx11 | Syntaxin-11 | Mus musculus (Mouse) | PR |
| P50279 | Stx2 | Syntaxin-2 | Rattus norvegicus (Rat) | PR |
| P61265 | Stx1b | Syntaxin-1B | Rattus norvegicus (Rat) | PR |
| Q08850 | Stx4 | Syntaxin-4 | Rattus norvegicus (Rat) | PR |
| P32851 | Stx1a | Syntaxin-1A | Rattus norvegicus (Rat) | PR |
| O16000 | unc-64 | Syntaxin-1A homolog | Caenorhabditis elegans | PR |
| Q9ZPV9 | SYP112 | Syntaxin-112 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKDRLAELLD | LSKQYDQQFP | DGDDEFDSPH | EDIVFETDHI | LESLYRDIRD | IQDENQLLVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DVKRLGKQNA | RFLTSMRRLS | SIKRDTNSIA | KAIKARGEVI | HCKLRAMKEL | SEAAEAQHGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HSAVARISRA | QYNALTLTFQ | RAMHDYNQAE | MKQRDNCKIR | IQRQLEIMGK | EVSGDQIEDM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FEQGKWDVFS | ENLLADVKGA | RAALNEIESR | HRELLRLESR | IRDVHELFLQ | MAVLVEKQAD |
| 250 | 260 | 270 | 280 | ||
| TLNVIELNVQ | KTVDYTGQAK | AQVRKAVQYE | EKNPCRTLCC | FCCPCLK |