Q8WUM4
EV
Gene name |
PDCD6IP (AIP1, ALIX, KIAA1375) |
Protein name |
Programmed cell death 6-interacting protein |
Names |
PDCD6-interacting protein, ALG-2-interacting protein 1, ALG-2-interacting protein X, Hp95 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10015 |
EC number |
|
Protein Class |
PCD6 INTERACTING PROTEIN-RELATED (PTHR23030) |
Descriptions
The adaptor protein PDCD6IP(ALIX) encodes a programmed cell death 6-interacting protein, which is involved in diverse cellular processes including cytokinesis, apoptosis, and junction integrity maintenance. PDCD6IP is composed of several domains (Bro1 domain containing patch 1 and 2, V domain, and proline-rich domain (PRD)). PRD contains multiple partner-protein-docking sites. PDCD6IP links retroviruses to ESCRT machinery during retroviral budding. This function of PDCD6IP requires its interaction with the ESCRT-III component CHMP4 at the N-terminal Bro1 domain and retroviral Gag protein at the middle of V domain.
The autoinhibited closed form of PDCD6IP is maintained via the intramolecular interaction between the patch 2 site of the Bro1 domain and TSG101-docking site (TDS) within the PRD domain, which prevents it from interacting with other partner proteins and inhibiting association with the membrane.
Though only the TDS was confirmed as an autoinhibitory region, since Bro1 domain has a protein-binding site for CHMP4, Bro1 domain may be an autoinhibitory region as well as a target element of TDS.
Autoinhibitory domains (AIDs)
Target domain |
712-720 (TSG101 docking site) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Target domain |
3-392 (Bro1 domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment, |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
20 structures for Q8WUM4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2OEV | X-ray | 330 A | A | 1-698 | PDB |
| 2OEW | X-ray | 255 A | A | 1-359 | PDB |
| 2OEX | X-ray | 258 A | A/B | 360-702 | PDB |
| 2OJQ | X-ray | 287 A | A | 360-702 | PDB |
| 2R02 | X-ray | 260 A | A | 2-698 | PDB |
| 2R03 | X-ray | 259 A | A | 2-698 | PDB |
| 2R05 | X-ray | 255 A | A | 2-698 | PDB |
| 2XS1 | X-ray | 230 A | A | 1-698 | PDB |
| 2XS8 | X-ray | 250 A | A | 1-698 | PDB |
| 2ZNE | X-ray | 220 A | C/D | 799-812 | PDB |
| 3C3O | X-ray | 215 A | A | 1-359 | PDB |
| 3C3Q | X-ray | 210 A | A | 1-359 | PDB |
| 3C3R | X-ray | 202 A | A | 1-359 | PDB |
| 3E1R | X-ray | 200 A | C | 797-809 | PDB |
| 3WUV | X-ray | 279 A | C/F/I/L/O/R | 796-810 | PDB |
| 4JJY | X-ray | 650 A | A/B | 355-708 | PDB |
| 5V3R | X-ray | 191 A | A | 1-359 | PDB |
| 5WA1 | X-ray | 187 A | A | 1-358 | PDB |
| 6KP3 | X-ray | 220 A | A | 1-359 | PDB |
| AF-Q8WUM4-F1 | Predicted | AlphaFoldDB |
620 variants for Q8WUM4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA352012187 rs552254221 |
2 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs993779340 CA72720150 |
2 | A>T | No |
ClinGen Ensembl |
|
|
CA72720154 rs552254221 |
2 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1202543891 CA352012212 |
4 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA72720157 rs867033284 |
4 | F>L | No |
ClinGen Ensembl |
|
|
CA72720168 rs1030168366 |
5 | I>M | No |
ClinGen gnomAD |
|
|
CA2303359 rs200697599 |
5 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72720171 rs866425760 |
6 | S>* | No |
ClinGen gnomAD |
|
|
CA352012235 rs866425760 |
6 | S>L | No |
ClinGen gnomAD |
|
|
VAR_068975 rs11554560 CA72720180 |
7 | V>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1048016998 CA72720184 |
8 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA72720188 rs890252819 |
9 | L>M | No |
ClinGen Ensembl |
|
|
CA2303362 rs754266010 |
11 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2303361 rs764341118 |
11 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA72720197 rs1013432243 |
12 | T>P | No |
ClinGen Ensembl |
|
|
CA72720202 rs199826661 |
14 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA352012320 rs1204241321 |
15 | V>M | No |
ClinGen TOPMed |
|
|
CA352012350 rs1344096717 |
19 | K>R | No |
ClinGen gnomAD |
|
|
rs866836879 CA72720222 |
20 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352012356 rs1404726993 |
20 | P>S | No |
ClinGen gnomAD |
|
|
CA352012386 rs1212990673 |
25 | I>L | No |
ClinGen gnomAD |
|
|
CA72720233 rs1005185115 |
26 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA72720244 rs371329482 |
27 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA72720240 rs371329482 |
27 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1289505812 CA352012402 |
27 | Q>P | No |
ClinGen gnomAD |
|
|
CA352012414 rs1490148655 |
29 | Y>D | No |
ClinGen gnomAD |
|
|
CA352012425 rs1248198737 |
30 | P>L | No |
ClinGen gnomAD |
|
|
CA352012422 rs1222979086 |
30 | P>S | No |
ClinGen gnomAD |
|
|
CA352012435 rs1474244960 |
32 | G>C | No |
ClinGen gnomAD |
|
|
CA352012485 rs1185549143 |
35 | E>G | No |
ClinGen gnomAD |
|
|
rs758559932 CA2303366 |
36 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA72720251 rs558287009 |
37 | A>V | No |
ClinGen 1000Genomes |
|
|
rs373978156 CA72720255 |
39 | Y>H | No |
ClinGen ESP |
|
|
CA72720258 rs765074768 |
40 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1364268939 CA352012562 |
41 | R>C | No |
ClinGen gnomAD |
|
|
CA352012559 rs1364268939 |
41 | R>S | No |
ClinGen gnomAD |
|
|
CA352012574 rs1304169025 |
42 | A>E | No |
ClinGen gnomAD |
|
|
rs1254277462 CA352012576 |
43 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1351956879 CA352012580 |
43 | A>V | No |
ClinGen gnomAD |
|
|
rs1428950487 CA352012584 |
44 | E>A | No |
ClinGen gnomAD |
|
|
rs1362837365 CA352012596 |
45 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352012598 rs370244363 |
46 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370244363 CA2303369 |
46 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223095001 CA352012631 |
51 | R>C | No |
ClinGen gnomAD |
|
|
rs550876351 CA2303371 |
52 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2303372 rs770431779 |
54 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1465931976 CA352012654 |
55 | G>D | No |
ClinGen gnomAD |
|
|
rs1242344780 CA352012651 |
55 | G>S | No |
ClinGen gnomAD |
|
|
CA72720291 rs948874400 |
56 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs948874400 CA352012657 |
56 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352012662 rs759005984 |
57 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368462021 CA2303375 |
57 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368462021 CA72720299 |
57 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2303374 rs759005984 |
57 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416489595 CA352012666 |
58 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA72720317 rs957504102 |
59 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2303376 rs775027615 |
60 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1437495330 CA352012680 |
60 | K>R | No |
ClinGen gnomAD |
|
|
rs182203537 CA72720323 |
61 | H>Q | No |
ClinGen 1000Genomes |
|
|
rs1334838147 CA352012686 |
61 | H>Y | No |
ClinGen gnomAD |
|
|
rs1575890999 CA352012696 |
62 | E>D | No |
ClinGen Ensembl |
|
|
CA2303377 rs761135925 |
62 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1328400068 COSM1219913 CA352012703 |
63 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs990173022 CA72720329 |
64 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1348373709 CA352012707 |
64 | A>V | No |
ClinGen gnomAD |
|
|
rs374644579 CA352012710 |
65 | L>F | No |
ClinGen TOPMed |
|
|
rs374644579 CA72720340 |
65 | L>I | No |
ClinGen TOPMed |
|
|
rs1284637924 CA352012715 |
66 | E>Q | No |
ClinGen gnomAD |
|
|
CA352012730 COSM1219916 rs1559766640 |
68 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs778487193 CA2303393 |
72 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745493460 CA2303394 |
75 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2303395 rs771747639 |
76 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774974360 CA2303397 |
78 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303396 rs774974360 |
78 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303399 rs145549670 |
83 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201762719 CA72725208 |
86 | E>K | No |
ClinGen 1000Genomes |
|
|
CA352015472 rs1325568224 |
88 | Q>R | No |
ClinGen TOPMed |
|
|
CA352016051 rs1190303262 |
89 | I>L | No |
ClinGen gnomAD |
|
|
CA352016131 rs1203084291 |
95 | W>* | No |
ClinGen gnomAD |
|
|
CA352016174 rs1269191396 COSM14020 |
98 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs748666912 CA2303417 |
100 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748666912 CA352016191 |
100 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393229903 CA352016222 |
102 | G>D | No |
ClinGen gnomAD |
|
|
rs1393229903 CA352016224 |
102 | G>V | No |
ClinGen gnomAD |
|
|
CA352016233 rs1439269663 |
103 | S>L | No |
ClinGen TOPMed |
|
|
rs773708920 CA2303419 |
107 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766639769 CA2303421 |
109 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538187955 CA72725487 |
112 | A>T | No |
ClinGen gnomAD |
|
|
CA2303440 rs371038293 |
113 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352017785 rs1424000908 |
114 | A>E | No |
ClinGen TOPMed |
|
|
CA72727715 rs980075372 |
115 | S>G | No |
ClinGen gnomAD |
|
|
CA352017790 rs1355713515 |
115 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1232383632 CA352017794 |
115 | S>R | No |
ClinGen gnomAD |
|
|
CA2303441 rs778427396 |
117 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA72727721 rs374162851 |
117 | G>V | No |
ClinGen ESP gnomAD |
|
|
rs771444445 CA2303443 |
120 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA352017861 rs1164834706 |
123 | V>A | No |
ClinGen TOPMed |
|
|
rs909925357 CA72727727 |
126 | N>S | No |
ClinGen Ensembl |
|
|
CA2303444 rs774626200 |
129 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs774626200 CA352017932 |
129 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352017953 rs1258416847 |
131 | A>V | No |
ClinGen gnomAD |
|
|
rs1186158422 CA352018005 |
136 | A>P | No |
ClinGen gnomAD |
|
|
rs1575913330 CA352018050 |
139 | N>K | No |
ClinGen Ensembl |
|
|
rs1466509950 CA352018053 |
140 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1170315876 CA352018058 |
140 | L>P | No |
ClinGen gnomAD |
|
|
rs1170315876 CA352018059 |
140 | L>R | No |
ClinGen gnomAD |
|
|
rs1466509950 CA352018055 |
140 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2303446 rs772244932 |
141 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459975668 CA352018096 |
143 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1304086708 CA352018112 |
145 | G>R | No |
ClinGen gnomAD |
|
|
rs368375025 CA2303448 |
149 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368375025 CA352018180 |
149 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766294744 CA2303472 |
156 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2303474 rs759265288 |
157 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352019242 rs1171213399 |
157 | S>T | No |
ClinGen gnomAD |
|
|
CA2303475 rs767156263 |
159 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA352019339 rs202035864 |
166 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202035864 CA2303477 |
166 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2303476 rs202035864 |
166 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438390348 CA352019354 |
168 | L>* | No |
ClinGen gnomAD |
|
|
CA352019372 rs1370178092 |
170 | A>T | No |
ClinGen gnomAD |
|
|
CA352019380 rs1438724757 |
170 | A>V | No |
ClinGen gnomAD |
|
|
CA352019388 rs1370362551 |
171 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2303479 rs144962999 |
172 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1566811 rs757821681 CA2303480 |
173 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs757821681 CA352019408 |
173 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779299344 CA2303481 |
173 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303482 rs746173204 |
175 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA352019464 rs1252855129 |
177 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352019466 rs1252855129 |
177 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs780276157 CA2303484 |
177 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303486 rs747213588 |
179 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747213588 COSM4152422 CA2303485 |
179 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA72728764 rs776689219 |
180 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2303487 rs776689219 |
180 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1222318750 CA352019538 |
182 | D>E | No |
ClinGen TOPMed |
|
|
CA352019535 rs1282192524 |
182 | D>V | No |
ClinGen TOPMed |
|
|
rs748286766 CA2303488 |
184 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1372841068 CA352019622 |
186 | T>S | No |
ClinGen TOPMed |
|
|
CA352019631 rs1280230518 |
187 | L>F | No |
ClinGen TOPMed |
|
|
rs1444413044 CA352019658 |
188 | S>R | No |
ClinGen TOPMed |
|
|
CA2303490 rs145300590 |
189 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2303491 rs145300590 |
189 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1462769948 CA352019679 |
190 | I>L | No |
ClinGen gnomAD |
|
|
CA2303492 rs767193376 |
190 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462769948 CA352019683 |
190 | I>V | No |
ClinGen gnomAD |
|
|
rs775464986 CA2303493 |
195 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs945770519 CA72728781 |
196 | Q>H | No |
ClinGen TOPMed |
|
|
rs1330874870 CA352019817 |
197 | E>V | No |
ClinGen gnomAD |
|
|
CA2303495 rs760399252 |
201 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303496 rs763892573 |
204 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381633030 CA352019899 |
205 | R>G | No |
ClinGen gnomAD |
|
|
rs1395786593 CA352019932 |
206 | D>V | No |
ClinGen gnomAD |
|
|
CA352019966 rs1173031483 |
210 | D>V | No |
ClinGen Ensembl |
|
|
CA2303520 rs766930269 |
211 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352019997 rs1231805336 |
212 | I>V | No |
ClinGen TOPMed |
|
|
CA2303522 rs755342303 |
215 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA72729168 rs867810146 |
218 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867810146 CA352020088 |
218 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2303524 rs781353506 |
219 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781353506 CA2303523 |
219 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373508589 CA352020139 |
221 | A>T | No |
ClinGen gnomAD |
|
|
rs1475040170 CA352020168 |
222 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1341405498 CA352020156 |
222 | D>N | No |
ClinGen Ensembl |
|
|
rs112770546 CA72729180 |
225 | G>S | No |
ClinGen Ensembl |
|
|
CA352020243 rs1396941047 |
225 | G>V | No |
ClinGen gnomAD |
|
|
CA2303526 rs756397927 |
226 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs143264432 CA2303527 |
227 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1559781949 CA352020330 |
229 | K>R | No |
ClinGen Ensembl |
|
|
CA352020347 rs1298382506 |
230 | Q>* | No |
ClinGen gnomAD |
|
|
CA2303529 rs771842188 |
232 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1225848885 CA352020478 |
236 | T>A | No |
ClinGen gnomAD |
|
|
CA72729219 rs368925669 |
236 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1222267109 CA352020487 |
237 | L>F | No |
ClinGen TOPMed |
|
|
CA2303533 rs776619396 |
238 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2303586 rs760895576 |
241 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352020988 rs760895576 |
241 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303587 rs765705200 |
242 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243249481 CA352021067 |
244 | V>I | No |
ClinGen TOPMed |
|
|
rs370170197 CA72730003 |
245 | L>V | No |
ClinGen Ensembl |
|
|
rs776902892 CA2303588 |
246 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762124942 CA2303589 |
247 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303590 rs765616917 |
247 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs140225420 CA72730028 |
250 | C>G | No |
ClinGen ESP gnomAD |
|
|
rs140225420 CA352021156 |
250 | C>R | No |
ClinGen ESP gnomAD |
|
|
rs1575920055 CA352021191 |
251 | I>N | No |
ClinGen Ensembl |
|
|
rs758560331 CA2303592 |
252 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750473039 CA2303591 |
252 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA352021221 rs1485518848 |
253 | Q>K | No |
ClinGen gnomAD |
|
|
rs767322019 CA2303593 |
255 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752706437 CA2303594 |
258 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs756056991 CA2303595 |
259 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352021313 rs756056991 |
259 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330782912 CA352021345 |
260 | Q>H | No |
ClinGen Ensembl |
|
|
rs777618163 CA2303596 |
260 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2303597 rs749136336 |
260 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1361263637 CA352021357 |
261 | S>C | No |
ClinGen gnomAD |
|
|
CA2303599 rs148065975 |
262 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413870401 CA352021436 |
266 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1413870401 CA352021434 |
266 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2303600 rs745342460 |
266 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA352021488 rs1363882244 |
269 | K>Q | No |
ClinGen gnomAD |
|
|
CA352021515 rs1382687765 |
270 | F>L | No |
ClinGen gnomAD |
|
|
CA352021541 rs1297395193 |
272 | E>D | No |
ClinGen gnomAD |
|
|
rs763369953 CA72730052 |
275 | A>E | No |
ClinGen ExAC |
|
|
rs763369953 CA2303603 |
275 | A>G | No |
ClinGen ExAC |
|
|
CA2303602 rs771633980 |
275 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs925131307 CA72733219 |
279 | H>R | No |
ClinGen TOPMed |
|
|
rs1365611464 CA352023129 |
280 | A>T | No |
ClinGen TOPMed |
|
|
CA2303644 rs759535313 |
286 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352023237 rs1470304401 |
287 | V>A | No |
ClinGen gnomAD |
|
|
CA2303645 rs764049174 |
287 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs753794675 CA2303646 |
288 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761786299 CA2303647 |
289 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1165504805 CA352023254 |
289 | S>Y | No |
ClinGen gnomAD |
|
|
CA2303648 rs764984377 |
290 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403612505 CA352023265 |
290 | R>H | No |
ClinGen gnomAD |
|
|
CA2303649 rs138586886 |
292 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72733269 rs950084927 |
292 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1369262116 CA352023348 |
296 | N>I | No |
ClinGen TOPMed |
|
|
rs779588112 CA2303651 |
297 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303653 rs754477479 |
302 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs566721231 CA2303655 |
305 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566721231 CA2303654 |
305 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770467364 CA2303656 |
306 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2303658 rs778280323 |
306 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303657 rs778280323 |
306 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72733317 rs778280323 |
306 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352023418 rs1431157450 |
307 | A>S | No |
ClinGen TOPMed |
|
|
CA352023416 rs1431157450 |
307 | A>T | No |
ClinGen TOPMed |
|
|
rs774464181 CA2303660 COSM116109 |
308 | L>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2303661 rs3792594 VAR_053017 |
309 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352023433 rs1249196060 |
310 | A>P | No |
ClinGen gnomAD |
|
|
CA352023448 rs1490677829 |
312 | K>R | No |
ClinGen TOPMed |
|
|
rs1486499096 CA352023464 |
314 | D>G | No |
ClinGen gnomAD |
|
|
CA352023462 rs1249565720 |
314 | D>Y | No |
ClinGen TOPMed |
|
|
rs772115635 CA2303662 |
316 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303664 rs761732885 |
318 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2303663 rs775586049 |
318 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252896500 CA352023517 |
321 | D>V | No |
ClinGen TOPMed |
|
|
CA72733344 rs757693835 |
322 | R>G | No |
ClinGen Ensembl |
|
|
CA2303667 rs762661428 |
323 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2303668 rs371977368 |
326 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371977368 CA352023543 |
326 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72733357 rs139871869 |
328 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2303669 rs139871869 |
328 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377515937 CA352023562 |
329 | L>I | No |
ClinGen gnomAD |
|
|
CA2303670 rs754711520 |
330 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA352023575 rs1475948909 |
331 | P>A | No |
ClinGen gnomAD |
|
|
CA2303672 rs142953386 |
332 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767108452 CA2303671 |
332 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1271319180 CA352023603 |
333 | G>D | No |
ClinGen gnomAD |
|
|
rs369166349 CA72733373 |
337 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs749621179 CA2303675 |
341 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749621179 CA2303676 |
341 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2303677 rs151036803 |
342 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2303678 rs151036803 |
342 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2303681 rs747107132 |
344 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769654741 CA2303682 |
344 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1242654098 CA352023802 |
345 | V>L | No |
ClinGen gnomAD |
|
|
rs1448879819 CA352023828 |
346 | P>L | No |
ClinGen gnomAD |
|
|
CA352023864 rs1409191291 |
348 | S>R | No |
ClinGen TOPMed |
|
|
CA2303696 rs779139930 |
355 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs746299728 CA352024568 COSM314038 |
357 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746299728 CA2303697 COSM314038 |
357 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA352024585 rs1456095474 |
358 | M>I | No |
ClinGen gnomAD |
|
|
CA2303698 rs758559741 |
358 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303699 rs543386492 |
360 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2303700 rs543386492 |
360 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352024621 rs1300091874 |
361 | V>G | No |
ClinGen gnomAD |
|
|
rs781385537 CA2303702 |
361 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352024634 rs1381579488 |
362 | S>L | No |
ClinGen TOPMed |
|
|
CA2303703 rs749153356 |
363 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA72734495 rs1028540497 |
368 | A>D | No |
ClinGen TOPMed |
|
|
CA352024703 rs1028540497 |
368 | A>V | No |
ClinGen TOPMed |
|
|
rs1206706855 CA352024707 |
369 | A>D | No |
ClinGen gnomAD |
|
|
CA2303705 rs371668410 |
370 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72734504 rs200617815 |
370 | Y>D | No |
ClinGen 1000Genomes |
|
|
CA2303706 rs200837933 |
371 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209324323 CA352024722 |
371 | N>K | No |
ClinGen gnomAD |
|
|
CA352024729 rs1288173675 |
372 | Q>H | No |
ClinGen TOPMed |
|
|
CA2303708 COSM186030 rs199990824 |
376 | D>N | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2303709 rs199990824 |
376 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352024782 rs3203777 |
378 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_053018 rs3203777 CA2303710 |
378 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2303711 rs753454743 |
381 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs765785345 CA2303713 |
382 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352024833 rs765785345 |
382 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352024862 rs1386018640 |
384 | Q>P | No |
ClinGen TOPMed |
|
|
rs1419222969 CA352024885 |
386 | R>K | No |
ClinGen gnomAD |
|
|
CA352024902 rs1235682354 |
388 | A>G | No |
ClinGen gnomAD |
|
|
CA2303714 rs750687384 |
389 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA352024913 rs767393361 |
390 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767393361 CA2303715 |
390 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303717 rs751760044 |
391 | L>W | No |
ClinGen ExAC TOPMed |
|
|
rs1308301164 CA352024930 |
393 | N>S | No |
ClinGen gnomAD |
|
|
rs1309284514 CA352025158 |
395 | V>M | No |
ClinGen gnomAD |
|
|
rs1213357989 CA352025253 |
398 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352025256 rs1213357989 |
398 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2303727 rs560717229 |
404 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2303728 rs560717229 |
404 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2303729 rs761392195 |
405 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs765624187 CA2303730 |
407 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303731 rs750951685 |
408 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA352025534 rs1389080010 |
411 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352025535 rs1389080010 |
411 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352025527 rs1188636031 |
411 | D>N | No |
ClinGen gnomAD |
|
|
rs763501423 CA2303732 |
412 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303733 rs766703195 |
412 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352025549 rs1359488900 |
413 | V>I | No |
ClinGen gnomAD |
|
|
CA2303734 rs527778227 |
414 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2303736 rs368897895 |
417 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352025703 rs1435805052 |
421 | S>P | No |
ClinGen gnomAD |
|
|
CA2303737 rs752677304 |
422 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050703511 CA72736233 |
422 | R>S | No |
ClinGen TOPMed |
|
|
CA2303738 rs756238525 |
424 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352025768 rs756238525 |
424 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303739 rs777760796 |
425 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546345810 CA2303741 |
427 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745766551 CA2303740 |
427 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352025870 rs1465734926 |
428 | G>E | No |
ClinGen gnomAD |
|
|
RCV000958293 CA2303742 rs76608858 VAR_069765 |
429 | G>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2303744 rs146976979 |
432 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352025999 rs1192525385 |
434 | D>H | No |
ClinGen gnomAD |
|
|
rs1575931556 CA352026031 |
435 | Q>* | No |
ClinGen Ensembl |
|
|
rs370556565 CA2303745 |
437 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352026078 rs1432318518 |
438 | K>E | No |
ClinGen gnomAD |
|
|
CA352026087 rs1169991727 |
438 | K>R | No |
ClinGen gnomAD |
|
|
CA2303746 rs747564125 |
441 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319853542 CA352026205 |
446 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs772750136 CA2303748 |
446 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352026252 rs1275601304 |
450 | I>V | No |
ClinGen gnomAD |
|
|
CA2303750 rs766934233 |
453 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775781344 CA2303773 |
456 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs920444037 CA72737096 |
459 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs764423996 CA2303775 |
459 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA352026498 rs1206212071 |
461 | E>D | No |
ClinGen gnomAD |
|
|
rs1359140311 CA352026505 |
462 | E>A | No |
ClinGen TOPMed |
|
|
CA352026525 rs1177402929 |
464 | T>I | No |
ClinGen TOPMed |
|
|
CA2303778 rs766371014 |
465 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751494517 CA2303779 |
466 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409518175 CA352026560 |
466 | N>S | No |
ClinGen gnomAD |
|
|
rs1254876268 CA352026699 |
474 | E>Q | No |
ClinGen gnomAD |
|
|
rs377593608 CA2303785 |
481 | S>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1226130506 CA352026791 |
482 | N>D | No |
ClinGen gnomAD |
|
|
CA72737167 rs1052371762 |
482 | N>S | No |
ClinGen TOPMed |
|
|
rs748759332 CA2303786 |
486 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1575933281 CA352026872 |
489 | R>I | No |
ClinGen Ensembl |
|
|
CA352026887 rs1419974799 |
491 | E>* | No |
ClinGen gnomAD |
|
|
rs1419974799 CA352026889 |
491 | E>K | No |
ClinGen gnomAD |
|
|
rs772561654 CA2303807 |
493 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs372822946 CA2303808 |
494 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149650568 CA72737805 |
497 | T>A | No |
ClinGen ESP |
|
|
rs1379600434 CA352027151 |
499 | L>I | No |
ClinGen gnomAD |
|
|
CA352027169 rs1575934309 |
500 | D>N | No |
ClinGen Ensembl |
|
|
rs1478522677 CA352027204 |
501 | K>T | No |
ClinGen gnomAD |
|
|
CA2303811 rs777175558 |
503 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA352027279 rs1559791527 |
506 | D>G | No |
ClinGen Ensembl |
|
|
CA352027311 rs1388665557 |
508 | Q>E | No |
ClinGen gnomAD |
|
|
rs200000172 CA2303814 |
508 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767452805 CA2303816 |
510 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs371176638 CA2303817 |
512 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200882224 CA2303818 |
514 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321200048 CA352027436 |
515 | S>C | No |
ClinGen gnomAD |
|
|
COSM1537620 rs1446289137 CA352027440 |
516 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2303819 rs763868684 |
517 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753688301 CA2303820 |
517 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464450577 CA352027473 COSM673910 |
518 | D>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2303822 rs764800455 |
521 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1452392664 CA352027500 |
522 | L>R | No |
ClinGen gnomAD |
|
|
rs112754416 COSM446384 CA2303824 |
523 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2303825 rs369799746 |
524 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352027528 rs1358740307 |
526 | P>L | No |
ClinGen TOPMed |
|
|
CA2303826 rs747488689 |
530 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755610827 CA2303827 |
531 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303828 rs781681009 |
539 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1248790842 CA352027609 |
539 | P>Q | No |
ClinGen TOPMed |
|
|
CA72737876 rs1040002789 |
541 | K>N | No |
ClinGen TOPMed |
|
|
rs1322506911 CA352027633 |
542 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs769994689 CA2303830 |
542 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs749342804 CA2303832 |
543 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770881406 CA2303833 |
546 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA352016447 rs1448519098 |
548 | V>D | No |
ClinGen gnomAD |
|
|
rs768539846 CA352016444 |
548 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2303864 rs768539846 |
548 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs997183182 CA72728008 |
549 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352016453 rs997183182 |
549 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs9813017 VAR_053019 CA2303865 |
550 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs761858353 CA2303866 |
553 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764908901 CA2303867 |
555 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1324252707 CA352016540 |
556 | L>F | No |
ClinGen TOPMed |
|
|
CA352016552 rs1369666048 |
558 | N>I | No |
ClinGen gnomAD |
|
|
CA72728028 rs369509984 |
558 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs1369666048 CA352016554 |
558 | N>S | No |
ClinGen gnomAD |
|
|
rs762500372 CA2303869 |
561 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751049961 CA2303871 |
563 | K>M | No |
ClinGen ExAC TOPMed |
|
|
rs751049961 CA352016596 |
563 | K>R | No |
ClinGen ExAC TOPMed |
|
|
CA2303872 rs759150820 |
564 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352016609 rs1395446145 |
565 | E>A | No |
ClinGen gnomAD |
|
|
CA2303874 rs768092466 |
567 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756707240 CA2303876 |
568 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753237062 CA2303875 |
568 | G>S | No |
ClinGen ExAC |
|
|
CA2303877 rs777982205 |
570 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352016651 rs1306064930 |
571 | N>K | No |
ClinGen gnomAD |
|
|
CA352016655 rs1212686259 |
572 | D>A | No |
ClinGen gnomAD |
|
|
rs754239826 CA2303878 |
574 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs372455933 CA352016680 |
576 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372455933 CA2303879 |
576 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352016714 rs1240692360 |
580 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs564348983 CA2303880 |
580 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745897897 CA2303881 |
582 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303883 rs200934519 COSM132745 |
591 | D>G | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1426440016 CA352016831 |
593 | V>A | No |
ClinGen gnomAD |
|
|
CA352016838 rs1160648176 |
594 | I>L | No |
ClinGen TOPMed |
|
|
rs1177956182 CA352016864 |
596 | E>A | No |
ClinGen gnomAD |
|
|
CA352016890 rs1465460994 |
598 | A>D | No |
ClinGen gnomAD |
|
|
CA352016903 rs1390861109 |
599 | L>P | No |
ClinGen gnomAD |
|
|
rs748031993 CA2303885 |
603 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA352016961 rs1182487467 |
605 | D>N | No |
ClinGen TOPMed |
|
|
CA2303886 rs769827421 |
605 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461401133 CA352016975 |
606 | R>* | No |
ClinGen TOPMed |
|
|
CA2303887 rs772826382 |
606 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222177556 CA352016982 |
607 | V>L | No |
ClinGen gnomAD |
|
|
rs770670015 CA2303889 |
608 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2303890 rs774172110 |
610 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767108673 CA2303892 |
612 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752309260 CA2303893 |
612 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761026483 CA2303894 |
614 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764665374 CA2303895 |
614 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA72728155 rs930075598 |
615 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352017064 rs930075598 |
615 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352017111 rs1158456911 |
618 | S>Y | No |
ClinGen gnomAD |
|
|
CA352017123 rs1343559049 |
620 | K>E | No |
ClinGen gnomAD |
|
|
rs1343559049 CA352017122 |
620 | K>Q | No |
ClinGen gnomAD |
|
|
rs1438836915 CA352017156 |
622 | Q>K | No |
ClinGen gnomAD |
|
|
CA2303900 rs758685492 |
625 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318544280 CA352017215 |
625 | L>H | No |
ClinGen TOPMed |
|
|
CA352017209 rs758685492 |
625 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72728170 rs758685492 |
625 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303901 rs755422573 |
630 | Q>N | No |
ClinGen ExAC |
|
|
CA2303914 rs760261646 |
631 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1290048052 CA352018177 |
632 | S>L | No |
ClinGen gnomAD |
|
|
rs777171927 CA2303916 |
634 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762346731 CA2303917 |
634 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750845508 CA2303919 |
637 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs750845508 CA352018284 |
637 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs3183982 VAR_053020 |
638 | K>E | No |
UniProt dbSNP |
|
|
rs751556113 CA2303922 |
639 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2303921 rs766594880 |
639 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72728621 rs766594880 |
639 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352018340 rs1442976172 |
641 | Q>* | No |
ClinGen gnomAD |
|
|
rs147601956 CA2303923 |
642 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781181539 CA2303924 |
643 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2303925 rs749221269 |
643 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA72728635 rs1044855711 |
644 | N>Y | No |
ClinGen TOPMed |
|
|
CA72728638 rs906299190 |
645 | E>D | No |
ClinGen TOPMed |
|
|
rs1449474873 CA352018516 |
653 | L>M | No |
ClinGen gnomAD |
|
|
rs143703400 CA2303930 |
655 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2303929 rs143703400 |
655 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2303931 rs775228323 |
657 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2303932 rs746687187 |
658 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1299390220 CA352018580 |
659 | A>S | No |
ClinGen gnomAD |
|
|
CA2303933 rs768180547 |
660 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA352018599 rs1195006866 |
661 | D>N | No |
ClinGen gnomAD |
|
|
rs141828459 CA2303934 |
662 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1200438555 CA352018635 |
664 | V>I | No |
ClinGen TOPMed |
|
|
rs573758897 CA72728673 |
667 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs765747243 CA2303936 |
667 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2303937 rs773499710 |
668 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1391027761 CA352018747 |
674 | T>I | No |
ClinGen gnomAD |
|
|
CA352018758 rs1231322463 |
675 | K>R | No |
ClinGen TOPMed |
|
|
rs773732693 CA2303958 |
678 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72729011 rs1035898860 |
683 | I>M | No |
ClinGen TOPMed |
|
|
rs960394095 CA352018896 |
685 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs960394095 CA72729012 |
685 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs982420381 CA72729013 |
692 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1160713595 CA352018992 |
692 | S>R | No |
ClinGen gnomAD |
|
|
CA2303960 rs202202188 |
694 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385102029 COSM3945400 CA352019015 |
694 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2303964 rs752781216 |
698 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2303963 COSM304865 rs767634774 |
698 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1321323016 CA352019099 |
702 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1302644481 CA352019122 |
703 | D>E | No |
ClinGen gnomAD |
|
|
CA72729018 rs908180451 |
705 | L>F | No |
ClinGen TOPMed |
|
|
CA2303965 rs760857139 |
707 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA352019162 rs1319055901 |
707 | K>R | No |
ClinGen TOPMed |
|
|
CA352020811 rs1286098962 |
708 | D>H | No |
ClinGen gnomAD |
|
|
CA352020810 rs1286098962 |
708 | D>N | No |
ClinGen gnomAD |
|
|
CA352020818 rs1399434723 |
708 | D>V | No |
ClinGen TOPMed |
|
|
CA72733001 rs748762692 |
710 | Q>R | No |
ClinGen Ensembl |
|
|
CA2303981 rs774705417 |
711 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA352020879 rs1289993632 |
711 | Q>P | No |
ClinGen gnomAD |
|
|
rs992465966 CA72733010 |
712 | S>R | No |
ClinGen Ensembl |
|
|
rs76077158 CA72733012 |
713 | I>M | No |
ClinGen Ensembl |
|
|
CA2303982 rs759845821 |
715 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559800576 CA352021003 |
717 | P>L | No |
ClinGen Ensembl |
|
|
CA352021038 rs1196621309 |
718 | S>T | No |
ClinGen gnomAD |
|
|
rs62620697 CA2303985 |
719 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs62620697 CA2303984 |
719 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417919468 CA352021066 |
719 | A>V | No |
ClinGen gnomAD |
|
|
CA352021079 rs1559800605 |
720 | P>A | No |
ClinGen Ensembl |
|
|
CA352021102 rs1179023538 |
720 | P>L | No |
ClinGen gnomAD |
|
|
CA2303986 rs764262607 |
721 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444836881 CA352021140 |
722 | I>V | No |
ClinGen gnomAD |
|
|
COSM480040 CA352021189 rs1467226462 |
723 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA72733072 rs1049051667 |
725 | P>R | No |
ClinGen TOPMed |
|
|
rs754028195 CA2303987 |
725 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2303989 rs149493155 |
726 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2303988 rs149493155 |
726 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455973250 CA352021246 |
727 | Y>C | No |
ClinGen gnomAD |
|
|
CA2303991 VAR_024381 rs1127732 |
730 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs554927064 CA2303992 |
732 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2303994 rs755834441 |
735 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777255965 CA2303996 |
735 | H>Q | No |
ClinGen ExAC |
|
|
rs755834441 CA352021440 |
735 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352021452 rs1233152342 |
736 | A>T | No |
ClinGen TOPMed |
|
|
CA2303997 rs145293758 |
737 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367901054 CA352021501 |
738 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA72733097 rs367901054 |
738 | T>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA352021535 rs1376152837 |
740 | P>S | No |
ClinGen TOPMed |
|
|
CA2303998 rs757738871 |
741 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352021545 rs757738871 |
741 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA11529227 rs1042625975 |
741 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1228604538 CA352021558 |
742 | P>L | No |
ClinGen gnomAD |
|
|
rs904072907 CA72733112 |
743 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776062009 CA2304002 |
744 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2304001 rs772291522 |
744 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769005395 CA2304004 |
747 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2304005 rs191378492 |
748 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191378492 CA2304006 |
748 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213079067 CA352021654 |
750 | T>A | No |
ClinGen gnomAD |
|
|
rs1273909206 CA352021657 |
750 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1470185759 CA352021660 |
751 | K>E | No |
ClinGen gnomAD |
|
|
rs372284510 CA2304022 |
752 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2304023 rs559310279 |
754 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1469277760 CA352021682 |
754 | P>S | No |
ClinGen gnomAD |
|
|
CA352021688 rs1390979978 |
755 | P>Q | No |
ClinGen gnomAD |
|
|
CA2304024 rs748441692 |
759 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs149155584 CA2304025 |
764 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408078935 CA352021759 |
767 | R>* | No |
ClinGen TOPMed |
|
|
rs1408078935 CA352021758 |
767 | R>G | No |
ClinGen TOPMed |
|
|
CA72733782 rs762157452 |
767 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2304026 rs571028506 |
770 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138811293 CA2304027 |
772 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2304029 rs775203496 |
773 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs116459194 CA2304028 |
773 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2304032 rs138439508 |
774 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138439508 CA72733810 |
774 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352021813 rs138439508 |
774 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2304035 rs763920102 |
777 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763920102 CA2304034 |
777 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115916654 RCV000946720 CA2304039 |
778 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749954487 CA2304038 |
778 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115916654 CA2304040 |
778 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352021842 rs1410196545 |
780 | G>R | No |
ClinGen gnomAD |
|
|
CA352021852 rs1401374681 |
781 | T>N | No |
ClinGen gnomAD |
|
|
CA72733835 rs988832686 |
782 | A>P | No |
ClinGen TOPMed |
|
|
CA2304042 rs755361949 |
783 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2304043 rs781655458 |
785 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352021870 rs781655458 |
785 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3203779 CA72733869 |
785 | A>V | No |
ClinGen Ensembl |
|
|
CA2304044 rs748303683 |
786 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290768517 CA352021881 |
787 | S>T | No |
ClinGen gnomAD |
|
|
CA352021885 rs1230064727 |
788 | Q>K | No |
ClinGen Ensembl |
|
|
CA2304045 rs541852500 |
789 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2304047 rs148683027 |
790 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352021901 rs1314738603 |
790 | P>S | No |
ClinGen gnomAD |
|
|
CA352021898 rs1314738603 |
790 | P>T | No |
ClinGen gnomAD |
|
|
CA2304048 rs771962015 |
792 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2304051 rs151184954 |
794 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2304052 rs151184954 |
794 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2304053 rs377353944 |
795 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435495799 CA352021927 |
795 | P>S | No |
ClinGen TOPMed |
|
|
rs937554214 CA72733917 |
797 | Q>K | No |
ClinGen Ensembl |
|
|
CA2304055 rs199655517 |
798 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA72733932 rs199655517 |
798 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352021952 rs1164475737 |
799 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs766026264 CA2304057 |
800 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2304059 rs755598362 |
803 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA352021987 rs1442178848 |
805 | T>A | No |
ClinGen gnomAD |
|
|
rs1297071601 CA352022009 |
808 | G>E | No |
ClinGen gnomAD |
|
|
rs753107154 CA2304061 |
810 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2304077 rs765972394 |
816 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA352022484 rs1381570272 |
816 | P>S | No |
ClinGen gnomAD |
|
|
CA72734545 rs755420558 |
817 | M>K | No |
ClinGen Ensembl |
|
|
rs1271683020 CA352022496 |
817 | M>V | No |
ClinGen gnomAD |
|
|
CA352022552 rs1260715353 |
819 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2304079 rs140488564 |
819 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140488564 CA2304078 |
819 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs958780894 CA72734569 |
821 | Y>C | No |
ClinGen gnomAD |
|
|
rs996006344 CA72734570 |
824 | Y>F | No |
ClinGen Ensembl |
|
|
CA2304081 rs752951471 |
825 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352022695 rs1242658106 |
827 | G>D | No |
ClinGen gnomAD |
|
|
CA352022728 rs1343686974 |
829 | Y>C | No |
ClinGen TOPMed |
|
|
CA352022801 rs1460122900 |
831 | M>T | No |
ClinGen gnomAD |
|
|
CA72734608 rs1016379692 |
832 | P>T | No |
ClinGen TOPMed |
|
|
CA352022937 rs1475301770 |
836 | V>L | No |
ClinGen gnomAD |
|
|
rs778899815 CA2304086 |
837 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs148349388 CA2304087 |
838 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754822891 CA2304088 |
843 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA72734629 rs966025052 |
844 | A>V | No |
ClinGen Ensembl |
|
|
CA352023058 rs781220962 |
845 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2304089 rs781220962 |
845 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352023065 rs773197346 |
846 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773197346 CA2304092 |
846 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560771018 CA2304094 |
847 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748942173 CA2304093 |
847 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs137934799 CA72734682 |
848 | G>R | No |
ClinGen ESP gnomAD |
|
|
CA352023155 rs1173067610 |
855 | P>T | No |
ClinGen TOPMed |
|
|
CA2304096 rs759104837 |
857 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1559801958 CA352023188 |
857 | P>L | No |
ClinGen Ensembl |
|
|
CA72734689 rs753023946 |
858 | Q>* | No |
ClinGen Ensembl |
|
|
CA2304097 rs374190893 |
859 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776046687 CA2304098 |
860 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA906441123 rs1180182291 |
864 | Y>* | No |
ClinGen TOPMed |
|
|
CA542613438 rs1199368996 |
864 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs913691831 CA72734713 |
864 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs764518342 CA2304100 |
866 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1159859393 CA352023322 |
868 | Q>* | No |
ClinGen gnomAD |
|
|
rs780770422 CA72734724 |
868 | Q>P | No |
ClinGen Ensembl |
No associated diseases with Q8WUM4
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23030 | PCD6 INTERACTING PROTEIN-RELATED |
| PANTHER Subfamily | PTHR23030:SF39 | PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN |
| PANTHER Protein Class | membrane traffic protein | |
| PANTHER Pathway Category | No pathway information available | |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| actomyosin | Any complex of actin, myosin, and accessory proteins. |
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum exit site | An endoplasmic reticulum part at which COPII-coated vesicles are produced. |
| 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 vesicle | Any vesicle that is part of the extracellular region. |
| Flemming body | A cell part that is the central region of the midbody characterized by a gap in alpha-tubulin staining. It is a dense structure of antiparallel microtubules from the central spindle in the middle of the intercellular bridge. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium-dependent protein binding | Binding to a protein or protein complex in the presence of calcium. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| proteinase activated receptor binding | Binding to a proteinase activated receptor. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| actomyosin contractile ring assembly | The process of assembly of a ring composed of actin, myosin, and associated proteins that will function in cytokinesis. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| bicellular tight junction assembly | The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet. |
| maintenance of epithelial cell apical/basal polarity | The maintenance of the apicobasal polarity of an epithelial cell. |
| midbody abscission | The process by which the midbody, the cytoplasmic bridge that connects the two prospective daughter cells, is severed at the end of mitotic cytokinesis, resulting in two separate daughter cells. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| multivesicular body assembly | The aggregation, arrangement and bonding together of a set of components to form a multivesicular body, a type of late endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm. |
| positive regulation of exosomal secretion | Any process that activates or increases the frequency, rate or extent of exosomal secretion. |
| positive regulation of extracellular exosome assembly | Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of centrosome duplication | Any process that modulates the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized. |
| regulation of extracellular exosome assembly | Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. |
| regulation of membrane permeability | Any process that modulates the frequency, rate or extent of the passage or uptake of molecules by a membrane. |
| ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway | The chemical reactions and pathways resulting in the breakdown of a protein or peptide, via the multivesicular body (MVB) sorting pathway; proteins are sorted into MVBs, and delivered to a lysosome/vacuole for degradation. This process is independent of ubiquitination. |
| viral budding | A viral process by which enveloped viruses acquire a host-derived membrane enriched in viral proteins to form their external envelope. The process starts when nucleocapsids, assembled or in the process of being built, induce formation of a membrane curvature in the host plasma or organelle membrane and wrap up in the forming bud. The process ends when the bud is eventually pinched off by membrane scission to release the enveloped particle into the lumenal or extracellular space. |
| viral budding via host ESCRT complex | Viral budding which uses a host ESCRT protein complex, or complexes, to mediate the budding process. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATFISVQLK | KTSEVDLAKP | LVKFIQQTYP | SGGEEQAQYC | RAAEELSKLR | RAAVGRPLDK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HEGALETLLR | YYDQICSIEP | KFPFSENQIC | LTFTWKDAFD | KGSLFGGSVK | LALASLGYEK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SCVLFNCAAL | ASQIAAEQNL | DNDEGLKIAA | KHYQFASGAF | LHIKETVLSA | LSREPTVDIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PDTVGTLSLI | MLAQAQEVFF | LKATRDKMKD | AIIAKLANQA | ADYFGDAFKQ | CQYKDTLPKE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VFPVLAAKHC | IMQANAEYHQ | SILAKQQKKF | GEEIARLQHA | AELIKTVASR | YDEYVNVKDF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDKINRALAA | AKKDNDFIYH | DRVPDLKDLD | PIGKATLVKS | TPVNVPISQK | FTDLFEKMVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VSVQQSLAAY | NQRKADLVNR | SIAQMREATT | LANGVLASLN | LPAAIEDVSG | DTVPQSILTK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SRSVIEQGGI | QTVDQLIKEL | PELLQRNREI | LDESLRLLDE | EEATDNDLRA | KFKERWQRTP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SNELYKPLRA | EGTNFRTVLD | KAVQADGQVK | ECYQSHRDTI | VLLCKPEPEL | NAAIPSANPA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KTMQGSEVVN | VLKSLLSNLD | EVKKEREGLE | NDLKSVNFDM | TSKFLTALAQ | DGVINEEALS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VTELDRVYGG | LTTKVQESLK | KQEGLLKNIQ | VSHQEFSKMK | QSNNEANLRE | EVLKNLATAY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DNFVELVANL | KEGTKFYNEL | TEILVRFQNK | CSDIVFARKT | ERDELLKDLQ | QSIAREPSAP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SIPTPAYQSS | PAGGHAPTPP | TPAPRTMPPT | KPQPPARPPP | PVLPANRAPS | ATAPSPVGAG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TAAPAPSQTP | GSAPPPQAQG | PPYPTYPGYP | GYCQMPMPMG | YNPYAYGQYN | MPYPPVYHQS |
| 850 | 860 | ||||
| PGQAPYPGPQ | QPSYPFPQPP | QQSYYPQQ |