O95782
PR
Gene name |
AP2A1 (ADTAA, CLAPA1) |
Protein name |
AP-2 complex subunit alpha-1 |
Names |
100 kDa coated vesicle protein A, Adaptor protein complex AP-2 subunit alpha-1, Adaptor-related protein complex 2 subunit alpha-1, Alpha-adaptin A, Alpha1-adaptin, Clathrin assembly protein complex 2 alpha-A large chain, Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:160 |
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 O95782
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95782-F1 | Predicted | AlphaFoldDB |
628 variants for O95782
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs760077953 CA9583173 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs933966805 CA309515935 |
3 | A>S | No |
ClinGen TOPMed |
|
|
CA406870884 rs1402665304 |
4 | V>A | No |
ClinGen gnomAD |
|
|
CA406870881 rs1393595163 |
4 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1393595163 CA406870879 |
4 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9583176 rs760772093 |
8 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 10 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9583177 rs764249348 |
12 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1600209370 CA406871056 |
15 | V>G | No |
ClinGen Ensembl |
|
|
rs1215743130 CA406871083 |
17 | I>N | No |
ClinGen TOPMed |
|
|
rs1342532873 CA406871133 |
20 | I>M | No |
ClinGen gnomAD |
|
|
rs1411576910 CA406875107 |
23 | C>Y | No |
ClinGen gnomAD |
|
|
CA406875125 rs1329307236 |
24 | K>E | No |
ClinGen gnomAD |
|
|
rs181461386 CA309526339 |
24 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1407640650 COSM999415 CA406875241 |
28 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 30 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401108451 CA406875570 COSM999417 |
41 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1342158259 CA406875606 |
42 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465239770 CA406875982 |
54 | S>I | No |
ClinGen gnomAD |
|
|
CA9583220 rs751460855 |
55 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA406876355 rs1363734550 |
68 | L>F | No |
ClinGen gnomAD |
|
|
CA9583224 rs755598672 |
71 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA406876433 rs1304630822 |
72 | I>V | No |
ClinGen gnomAD |
|
|
CA406876494 rs1245406259 |
75 | G>R | No |
ClinGen TOPMed |
|
|
rs1035580819 CA309526716 |
86 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9583227 rs370079798 |
89 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406877067 rs1238137119 |
91 | K>R | No |
ClinGen TOPMed |
|
|
rs1480807389 CA406877256 |
104 | S>L | No |
ClinGen gnomAD |
|
|
rs1331385395 CA406877265 |
105 | N>S | No |
ClinGen TOPMed |
|
|
CA406877276 rs1249211993 |
106 | S>L | No |
ClinGen gnomAD |
|
|
rs1401555293 CA406877295 |
108 | L>V | No |
ClinGen TOPMed |
|
|
CA406877315 rs1311334345 |
110 | R>C | No |
ClinGen TOPMed |
|
|
rs774740971 CA9583255 |
110 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309527048 rs376940196 |
115 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA406877425 rs1306527384 |
119 | D>A | No |
ClinGen gnomAD |
|
|
CA9583259 CA406877431 rs760518335 |
119 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9583262 rs761344586 |
121 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9583261 rs753316625 |
121 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764811826 CA9583263 |
123 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9583264 rs369435829 |
123 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406877466 rs369435829 |
123 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373146378 CA9583265 |
126 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406877502 rs1486455042 |
127 | F>Y | No |
ClinGen gnomAD |
|
|
rs756543955 CA9583268 |
128 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1236420326 CA406877517 |
128 | M>T | No |
ClinGen gnomAD |
|
|
CA406877606 rs1449394165 |
136 | A>T | No |
ClinGen gnomAD |
|
|
CA9583270 rs749327119 |
137 | N>S | Variant assessed as Somatic; 9.527e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA309527139 rs748610365 |
138 | V>M | No |
ClinGen Ensembl |
|
|
CA406877677 rs779214091 |
141 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9583272 rs779214091 |
141 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1357618490 CA406877670 |
141 | R>W | No |
ClinGen gnomAD |
|
|
rs1365912393 CA406877709 |
143 | M>I | No |
ClinGen gnomAD |
|
|
CA406877725 rs1295134998 |
145 | E>K | No |
ClinGen gnomAD |
|
|
rs1219473072 CA406877748 |
146 | A>D | No |
ClinGen gnomAD |
|
|
rs775126925 CA9583275 |
146 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768541903 CA9583277 |
147 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs370277861 CA9583280 |
149 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750005661 CA9583281 |
151 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA406877832 rs1382486391 |
152 | P>S | No |
ClinGen TOPMed |
|
|
rs762488439 CA9583282 |
153 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766092940 CA9583283 |
154 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549942543 CA9583284 |
156 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868723998 CA309527185 |
157 | A>V | No |
ClinGen Ensembl |
|
|
CA9583286 rs764642513 |
158 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780941148 CA9583313 |
163 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406881578 rs1184987560 |
166 | Q>E | No |
ClinGen gnomAD |
|
|
rs1441869587 CA406881614 |
167 | S>G | No |
ClinGen gnomAD |
|
|
CA9583315 rs769677283 |
168 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1451235524 CA406881665 |
169 | A>S | No |
ClinGen gnomAD |
|
|
CA406881696 rs1183455622 |
172 | L>V | No |
ClinGen TOPMed |
|
|
rs1168999696 CA406881715 |
174 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406881720 rs1168999696 |
174 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748685860 CA9583317 |
175 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173918471 CA406881786 |
178 | A>D | No |
ClinGen gnomAD |
|
|
CA9583320 rs759251973 COSM69681 |
179 | S>L | lung ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA406881819 rs1328766231 |
180 | P>S | No |
ClinGen gnomAD |
|
|
rs563001648 CA9583321 |
181 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297333478 CA406881883 |
183 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1340433262 CA406881904 |
184 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1207869156 CA406881969 |
186 | G>S | No |
ClinGen TOPMed |
|
|
rs1344568687 CA406882014 |
188 | W>G | No |
ClinGen gnomAD |
|
|
rs762300764 CA9583323 |
189 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1466201102 CA406882055 |
190 | A>P | No |
ClinGen gnomAD |
|
|
rs1189089618 CA406882065 |
190 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406882079 COSM999425 rs1447484112 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1177928985 CA406882088 |
191 | R>P | No |
ClinGen gnomAD |
|
|
CA9583326 rs763435834 |
192 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766467556 CA9583327 |
194 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs370723855 CA9583328 |
200 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9583329 rs755160434 |
201 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs755160434 CA9583330 |
201 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA406882865 rs1385331154 |
203 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9583344 rs773506704 |
205 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406882929 rs1286517308 |
206 | A>V | No |
ClinGen gnomAD |
|
|
rs751596886 CA9583347 |
207 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9583349 rs556873406 |
208 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1207822426 CA406882991 |
210 | L>V | No |
ClinGen gnomAD |
|
|
CA9583350 rs752915862 |
211 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472713863 CA406883038 |
212 | T>I | No |
ClinGen gnomAD |
|
|
CA406883107 rs574980182 |
216 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777616088 CA9583352 |
217 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406883171 rs1166040968 |
220 | D>G | No |
ClinGen gnomAD |
|
|
CA406883160 rs1426105390 |
220 | D>N | No |
ClinGen gnomAD |
|
|
rs542396516 CA9583355 |
224 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9583358 rs372011505 |
226 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9583359 rs375208409 |
229 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313415811 CA406883411 |
231 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9583362 rs763256855 |
232 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309533176 rs867680995 |
232 | R>H | No |
ClinGen TOPMed |
|
|
CA406883451 rs1483179646 |
234 | S>G | No |
ClinGen gnomAD |
|
| rs911292473 | 235 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483974146 CA406883485 |
235 | R>Q | No |
ClinGen gnomAD |
|
|
CA9583365 COSM999427 rs759541757 |
235 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 236 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9583382 rs746357444 |
237 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406884732 rs1214171426 |
237 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1478495056 CA406884749 |
238 | S>P | No |
ClinGen gnomAD |
|
|
CA9583383 rs772619486 |
239 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA309533968 rs867361264 |
240 | A>S | No |
ClinGen Ensembl |
|
|
CA406884851 rs1600235313 |
242 | T>P | No |
ClinGen Ensembl |
|
|
CA309533972 rs375625262 |
243 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs947121825 CA309533973 |
244 | L>P | No |
ClinGen Ensembl |
|
|
CA406884958 rs1600235326 |
245 | Q>P | No |
ClinGen Ensembl |
|
|
CA406885074 rs1436780576 |
250 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406885064 rs1246860715 |
250 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406885078 rs1436780576 |
250 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9583388 rs200285849 |
252 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9583389 rs765120757 |
255 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA309533984 rs868341982 |
258 | S>* | No |
ClinGen gnomAD |
|
|
rs868341982 CA406885282 |
258 | S>L | No |
ClinGen gnomAD |
|
|
CA9583391 rs758378795 |
259 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9583392 rs766448453 |
260 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221253938 CA406885320 |
260 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1267117077 CA406885323 |
261 | L>V | No |
ClinGen gnomAD |
|
|
rs375354389 CA9583393 |
263 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406885359 rs1183003232 |
263 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1469592391 CA406885425 |
266 | Q>R | No |
ClinGen gnomAD |
|
|
CA406885471 rs1415849091 |
268 | Y>C | No |
ClinGen gnomAD |
|
|
CA406885457 rs1249882682 |
268 | Y>H | No |
ClinGen gnomAD |
|
|
rs1415849091 CA406885464 |
268 | Y>S | No |
ClinGen gnomAD |
|
|
rs754456801 CA9583394 |
269 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_060544 CA309533997 rs17851121 |
270 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1411217818 CA406885511 |
271 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406885519 rs1308119171 |
271 | P>L | No |
ClinGen gnomAD |
|
|
rs1411217818 CA406885514 |
271 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406885526 rs1349278325 |
272 | E>K | No |
ClinGen gnomAD |
|
|
CA9583416 rs777437665 |
274 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA309487119 rs199628077 |
276 | V>G | No |
ClinGen 1000Genomes |
|
|
CA309487114 rs931407127 |
276 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1390403446 CA406879494 |
278 | G>E | No |
ClinGen TOPMed |
|
|
rs1174990216 CA406879501 |
279 | R>Q | No |
ClinGen TOPMed |
|
|
rs1188956541 CA406879499 |
279 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1600238775 CA406879539 |
281 | V>G | No |
ClinGen Ensembl |
|
|
rs1460094901 CA406879583 |
283 | C>Y | No |
ClinGen gnomAD |
|
|
CA9583421 rs747466046 COSM1481338 |
287 | V>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9583420 rs747466046 |
287 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1367944694 CA406879751 |
289 | N>S | No |
ClinGen gnomAD |
|
|
CA309487175 rs895148644 |
294 | P>S | No |
ClinGen gnomAD |
|
|
rs770091577 CA9583424 |
296 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA406880095 rs1201832675 |
297 | S>F | No |
ClinGen gnomAD |
|
|
rs1466197954 CA406880151 |
299 | K>N | No |
ClinGen gnomAD |
|
|
rs1013978987 CA309487195 |
300 | V>E | No |
ClinGen Ensembl |
|
|
rs770841458 CA9583427 |
302 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA309487254 rs191992412 |
305 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9583429 rs191992412 |
305 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1479852002 CA406880356 |
305 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | N>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406880682 rs1383191656 |
316 | L>F | No |
ClinGen gnomAD |
|
|
rs1324517313 CA406880709 |
317 | I>M | No |
ClinGen gnomAD |
|
|
rs760204207 CA9583432 |
317 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927679840 CA406880748 |
318 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs902762307 CA309487290 |
320 | Y>C | No |
ClinGen Ensembl |
|
|
rs771231346 CA9583445 |
325 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs771231346 CA406881114 |
325 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs367792205 CA9583446 |
327 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309487566 rs371353624 |
329 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs745709194 CA9583447 |
329 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 331 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 332 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249122885 CA406881435 |
334 | L>P | No |
ClinGen gnomAD |
|
|
rs760112123 CA9583450 |
341 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA406881612 rs1461596166 |
341 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs760112123 CA406881608 |
341 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA406881714 rs1315493907 |
346 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1600239427 CA406881725 |
347 | Y>S | No |
ClinGen Ensembl |
|
|
rs1243453747 CA406881753 |
349 | A>T | No |
ClinGen gnomAD |
|
|
rs761434079 CA9583453 |
355 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406881927 rs1182911534 |
357 | A>V | No |
ClinGen gnomAD |
|
|
CA406881971 rs1443220381 |
360 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406881994 rs1568585884 |
361 | F>I | No |
ClinGen Ensembl |
|
|
CA309487587 rs920483294 |
361 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 363 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467549674 CA406882087 |
365 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753249065 CA9583458 |
366 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406882136 rs1450269477 |
368 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406882239 rs1213579233 COSM1183119 |
373 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs757384374 CA9583462 |
374 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA309487626 rs1011142054 |
375 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs745596176 CA9583464 |
375 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs572245833 CA9583486 |
379 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406882350 rs1343047663 |
379 | T>S | No |
ClinGen gnomAD |
|
|
rs1222486293 CA406882371 |
381 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406882375 rs1292401453 |
381 | R>Q | No |
ClinGen gnomAD |
|
|
CA406882372 rs1222486293 |
381 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1052458308 CA309487708 |
383 | V>I | No |
ClinGen TOPMed |
|
|
rs1568586062 CA406882419 |
385 | V>M | No |
ClinGen Ensembl |
|
|
rs781118779 CA9583491 |
386 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1010858993 CA309487713 |
386 | R>W | No |
ClinGen TOPMed |
|
|
CA9583492 rs747545364 |
388 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406882454 rs1182602744 |
388 | R>W | No |
ClinGen gnomAD |
|
|
CA406882469 rs1380703785 |
389 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA406882501 rs1386805735 |
392 | L>F | No |
ClinGen gnomAD |
|
|
rs1363305347 CA406882542 |
395 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA309487760 rs1027601299 |
396 | M>T | No |
ClinGen Ensembl |
|
|
rs1431161552 CA406882573 |
397 | C>Y | No |
ClinGen gnomAD |
|
|
rs775953622 COSM1304924 CA9583497 |
399 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9583496 rs770745252 |
399 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761145930 CA9583498 |
405 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9583499 rs764640528 |
406 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9583500 rs754378520 |
407 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765347166 CA9583502 |
408 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1228093649 CA406882763 |
411 | R>P | No |
ClinGen TOPMed |
|
|
CA9583504 rs758617042 |
411 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1383068537 CA406882810 |
415 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406882817 rs1476149935 |
415 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1395096926 CA406882829 |
416 | A>V | No |
ClinGen gnomAD |
|
|
CA9583509 rs748102575 |
419 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs565962932 | 424 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600240331 CA406883175 |
425 | V>G | No |
ClinGen Ensembl |
|
|
rs1251898242 CA406883164 |
425 | V>I | No |
ClinGen gnomAD |
|
|
CA9583544 rs748493956 |
426 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA406883268 rs1317598395 |
430 | I>F | No |
ClinGen Ensembl |
|
|
rs1454682342 CA406883319 |
432 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 435 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766432944 CA9583548 |
436 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774463341 CA9583549 |
437 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 440 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309487950 rs763624613 |
443 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA309487970 rs753456849 |
451 | R>H | No |
ClinGen Ensembl |
|
|
rs1348128671 CA406884083 |
452 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406884120 rs1224201399 |
453 | A>V | No |
ClinGen gnomAD |
|
|
CA406884616 rs1568586413 |
468 | I>F | No |
ClinGen Ensembl |
|
|
rs779596720 CA9583560 |
469 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA406884701 rs1179107362 |
472 | R>C | No |
ClinGen TOPMed |
|
|
rs748476589 CA9583561 |
472 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9583563 rs773683243 |
474 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9583564 rs749773354 |
475 | V>I | Variant assessed as Somatic; 0.0005118 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9583566 rs371530889 |
480 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576480748 CA9583568 |
482 | T>I | Variant assessed as Somatic; 4.687e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs776527462 CA9583591 |
486 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175399214 CA406887022 |
494 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9583594 rs750379192 |
501 | G>S | No |
ClinGen ExAC |
|
| TCGA novel | 505 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362224795 CA406887512 |
511 | I>M | No |
ClinGen gnomAD |
|
|
rs1381170309 CA406887539 |
513 | G>E | No |
ClinGen gnomAD |
|
|
CA406887589 rs1600241707 |
514 | D>A | No |
ClinGen Ensembl |
|
|
rs866970439 CA309488749 |
515 | P>S | No |
ClinGen gnomAD |
|
|
rs1042724308 CA309488753 |
518 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 520 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9583621 rs530671541 |
520 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 521 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406888082 rs1287760078 |
528 | S>F | No |
ClinGen gnomAD |
|
|
rs780633861 COSM1245144 CA9583623 |
531 | H>Y | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA406888406 rs1444804311 |
538 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 538 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410937553 CA406888632 |
546 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs895742791 CA309488917 |
548 | F>L | No |
ClinGen TOPMed |
|
|
rs1328496268 CA406888765 |
549 | I>M | No |
ClinGen TOPMed |
|
|
CA406888786 rs1600242273 |
550 | N>T | No |
ClinGen Ensembl |
|
|
rs1354462392 CA406888826 |
552 | F>Y | No |
ClinGen gnomAD |
|
|
rs567861803 CA309488926 |
555 | T>I | No |
ClinGen Ensembl |
|
|
rs774348187 CA9583632 |
557 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428586269 CA406889016 |
558 | T>A | No |
ClinGen TOPMed |
|
|
rs767003750 CA9583634 |
561 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1353222380 CA406889144 |
561 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9583637 rs763768533 |
562 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs750709484 CA9583638 |
564 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406889235 rs1244689907 |
565 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752105580 CA9583641 |
566 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1023243851 CA309488956 |
570 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9583644 rs571345662 |
570 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9583645 rs748265613 |
571 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA406889578 rs373122162 |
573 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778069185 CA9583647 |
574 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452350021 CA406889656 |
575 | E>G | No |
ClinGen gnomAD |
|
|
CA406889744 rs1600242395 |
578 | Q>R | No |
ClinGen Ensembl |
|
|
CA406889762 rs1332513596 |
579 | R>G | No |
ClinGen gnomAD |
|
|
CA406889826 rs1600242402 |
580 | A>T | No |
ClinGen Ensembl |
|
|
rs1328424835 CA406889862 |
580 | A>V | No |
ClinGen gnomAD |
|
|
CA9583649 rs770753280 |
581 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA309488966 rs954979381 |
584 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406890030 rs1600242433 |
585 | T>P | No |
ClinGen Ensembl |
|
|
CA406890231 rs1009076797 |
591 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA309488968 rs1009076797 |
591 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406890279 rs1324062033 |
592 | T>I | No |
ClinGen gnomAD |
|
|
CA406890358 rs1332114058 |
595 | L>Q | No |
ClinGen TOPMed |
|
|
CA309489023 rs867475895 |
597 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1191448600 CA406890790 |
601 | E>D | No |
ClinGen TOPMed |
|
|
CA406890842 rs1489504772 |
602 | M>I | No |
ClinGen TOPMed |
|
|
rs1350968997 CA406890877 |
603 | P>L | No |
ClinGen gnomAD |
|
|
CA309489026 rs866287624 |
603 | P>S | No |
ClinGen Ensembl |
|
|
CA406890967 rs1291804066 |
607 | E>K | No |
ClinGen gnomAD |
|
|
rs1488456224 CA406891019 |
608 | R>S | No |
ClinGen gnomAD |
|
|
CA406891030 rs1253258954 |
609 | E>K | No |
ClinGen gnomAD |
|
|
rs1438813606 CA406891057 |
610 | S>L | No |
ClinGen gnomAD |
|
|
CA9583683 rs759988388 |
612 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA309489033 rs866531037 |
613 | L>M | No |
ClinGen Ensembl |
|
|
rs1164331461 CA406891144 |
614 | A>T | No |
ClinGen gnomAD |
|
|
rs868693137 CA309489036 |
616 | L>M | No |
ClinGen gnomAD |
|
|
rs1291777476 CA406891273 |
618 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406891279 rs1398543679 |
618 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406891316 rs1447254681 |
619 | K>N | No |
ClinGen gnomAD |
|
|
CA406891396 rs1330361577 |
621 | G>E | No |
ClinGen gnomAD |
|
|
CA309489039 rs1038174060 |
623 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406891465 rs1038174060 |
623 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9583685 rs753251310 |
623 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9583687 rs764209835 |
625 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481207140 CA406891572 |
628 | L>M | No |
ClinGen gnomAD |
|
|
CA406891584 rs1198440515 |
628 | L>P | No |
ClinGen gnomAD |
|
|
rs757462553 CA9583689 |
630 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1184493596 CA406891651 |
631 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9583690 rs779027079 |
632 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201008646 CA9583692 |
633 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9583693 rs779894088 |
633 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201008646 CA9583691 |
633 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406891699 rs1374740846 |
634 | D>H | No |
ClinGen gnomAD |
|
|
rs1419401479 CA406891747 |
635 | P>L | No |
ClinGen TOPMed |
|
|
CA309489055 rs370869413 |
635 | P>S | No |
ClinGen ESP |
|
|
rs1466029554 CA406891753 |
636 | S>N | No |
ClinGen gnomAD |
|
|
rs868730112 CA309489058 |
636 | S>R | No |
ClinGen gnomAD |
|
|
rs746939772 CA9583694 |
637 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs746939772 CA406891772 |
637 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA406891806 rs780711341 |
639 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9583696 rs780711341 |
639 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747631338 CA9583697 |
640 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA406891877 rs368863448 |
641 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368863448 CA9583698 |
641 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406891885 rs1218609177 |
642 | G>R | No |
ClinGen gnomAD |
|
|
rs773003101 CA406891913 |
643 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773003101 CA9583699 |
643 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309489073 rs1009124260 |
645 | E>G | No |
ClinGen TOPMed |
|
|
rs1211264256 CA406891953 |
645 | E>K | No |
ClinGen gnomAD |
|
|
CA309489075 rs911166352 |
646 | P>H | No |
ClinGen Ensembl |
|
|
rs1489916997 CA406891995 |
647 | T>A | No |
ClinGen TOPMed |
|
|
rs868374371 CA309489083 |
648 | P>T | No |
ClinGen Ensembl |
|
|
rs865891368 CA309489122 |
652 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 652 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437761857 CA406892170 |
653 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747624025 CA9583715 |
656 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9583714 rs781001322 |
656 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1238071753 CA406892267 |
658 | A>D | No |
ClinGen gnomAD |
|
|
rs867951286 CA309489130 |
658 | A>P | No |
ClinGen TOPMed |
|
|
rs867951286 CA309489132 |
658 | A>S | No |
ClinGen TOPMed |
|
|
rs867951286 CA406892260 |
658 | A>T | No |
ClinGen TOPMed |
|
|
rs1452222348 CA406892286 |
659 | D>N | No |
ClinGen gnomAD |
|
|
CA9583717 rs530851870 |
660 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309489136 rs868261837 |
660 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 661 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406892320 rs748925714 |
661 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180209182 CA406892376 |
664 | R>L | No |
ClinGen gnomAD |
|
|
CA9583719 rs770745495 |
665 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438644921 CA406892401 |
665 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 666 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775959554 CA9583720 |
667 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 667 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309489143 rs867324445 |
668 | P>L | No |
ClinGen Ensembl |
|
|
rs1386597024 COSM1245146 CA406892446 |
668 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA309489145 rs916943511 |
669 | P>L | No |
ClinGen TOPMed |
|
|
CA406892479 rs1323543347 |
670 | A>S | No |
ClinGen gnomAD |
|
|
rs1348637394 CA406892513 |
671 | A>V | No |
ClinGen gnomAD |
|
|
CA406892522 rs1332394752 |
672 | P>A | No |
ClinGen gnomAD |
|
|
rs1332394752 CA406892523 |
672 | P>S | No |
ClinGen gnomAD |
|
|
rs1332394752 CA406892518 |
672 | P>T | No |
ClinGen gnomAD |
|
|
CA9583722 rs769149667 |
673 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9583721 rs747357536 |
673 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs548853583 CA9583724 |
674 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548853583 CA9583725 |
674 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9583726 rs773331972 |
677 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9583727 rs763133617 |
678 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1319799002 CA406892623 CA406892621 |
680 | N>K | No |
ClinGen gnomAD |
|
|
CA406892615 rs1336700433 |
680 | N>S | No |
ClinGen TOPMed |
|
|
CA406892635 rs1200337791 |
681 | L>F | No |
ClinGen gnomAD |
|
|
rs1176443586 CA406892672 |
683 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1457133428 CA406892663 |
683 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs567167146 CA309489156 |
685 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9583730 rs754730470 |
688 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406892752 rs1171868334 |
689 | P>A | No |
ClinGen gnomAD |
|
|
CA14716305 rs1400091010 |
689 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1038631863 CA309489167 |
690 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406892780 rs1341225665 |
691 | A>T | No |
ClinGen gnomAD |
|
|
rs1447414857 CA406892810 |
693 | P>A | No |
ClinGen gnomAD |
|
|
CA406892821 rs1282454958 |
693 | P>L | No |
ClinGen gnomAD |
|
|
rs1376931046 CA406892825 |
694 | S>G | No |
ClinGen gnomAD |
|
|
rs1442793390 CA406892881 |
697 | P>L | No |
ClinGen gnomAD |
|
|
CA309489176 rs968855911 |
698 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1482114005 CA406892889 |
698 | T>P | No |
ClinGen TOPMed |
|
|
CA309489174 rs968855911 |
698 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748839990 CA406892898 |
699 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748839990 CA9583735 |
699 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196520135 CA406892892 |
699 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406892959 rs1235200504 |
702 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1235200504 CA406892954 |
702 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406892970 rs1478498665 |
702 | A>V | No |
ClinGen gnomAD |
|
|
CA9583739 rs768902515 |
703 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377019451 CA406892987 |
704 | L>F | No |
ClinGen TOPMed |
|
|
CA406893002 rs1600243378 |
705 | S>R | No |
ClinGen Ensembl |
|
|
rs1157644267 CA406893167 |
706 | E>G | No |
ClinGen gnomAD |
|
|
CA406893155 rs1355513446 |
706 | E>K | No |
ClinGen TOPMed |
|
|
rs984004822 CA309489324 |
708 | E>A | No |
ClinGen Ensembl |
|
|
CA9583797 rs765869542 |
708 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1293248255 CA406894619 |
709 | P>L | No |
ClinGen gnomAD |
|
|
rs751195683 CA9583798 |
709 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406894628 rs1310230595 |
710 | P>L | No |
ClinGen gnomAD |
|
|
CA9583799 rs754670908 |
710 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406894644 rs1568588380 |
711 | A>V | No |
ClinGen Ensembl |
|
|
CA9583800 rs373662953 |
712 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406894660 rs373662953 |
712 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406894659 rs373662953 |
712 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9583801 rs754230824 |
713 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406894695 rs1323372030 |
714 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA406894711 rs1272362952 |
715 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406894729 rs745870176 |
716 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370161023 CA406894722 |
716 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9583804 rs745870176 |
716 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9583805 rs745870176 |
716 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9583803 rs370161023 |
716 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238406659 CA406894753 |
717 | A>V | No |
ClinGen gnomAD |
|
|
CA9583807 rs376399764 |
720 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406894795 rs376399764 |
720 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9583806 rs373510390 |
720 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406894801 rs1416613443 |
721 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769044271 CA9583808 |
722 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA406894819 rs1164649516 |
722 | P>S | No |
ClinGen gnomAD |
|
|
CA9583810 rs776529479 |
723 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9583809 rs776529479 |
723 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913526755 CA309489365 |
724 | P>A | No |
ClinGen Ensembl |
|
|
rs1376349814 CA406894841 |
724 | P>R | No |
ClinGen gnomAD |
|
|
rs946285337 CA309489366 |
725 | A>T | No |
ClinGen Ensembl |
|
|
rs1043281067 CA309489367 |
726 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406894928 rs1194217194 |
729 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs542216541 CA9583834 |
730 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9583835 rs773800083 |
732 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1431345069 CA406894999 |
733 | I>F | No |
ClinGen gnomAD |
|
|
rs759059517 CA9583836 |
733 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759059517 CA406895009 |
733 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 734 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9583837 rs771647244 |
734 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406895017 rs771647244 |
734 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 735 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775119676 CA9583838 |
735 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9583839 rs371119628 |
736 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364156306 CA406895098 |
738 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406895110 rs560517578 |
738 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9583841 rs560517578 |
738 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364156306 CA406895095 |
738 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA309489529 rs898248864 |
739 | E>K | No |
ClinGen TOPMed |
|
|
rs1265305204 CA406895184 |
741 | D>E | No |
ClinGen TOPMed |
|
|
rs1355200810 CA406895169 |
741 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1355200810 CA406895173 |
741 | D>Y | No |
ClinGen gnomAD |
|
|
rs1218057673 CA406895190 |
742 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 746 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9583880 rs768301257 |
748 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9583879 rs768301257 |
748 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406895400 rs1212141967 |
750 | K>R | No |
ClinGen gnomAD |
|
|
CA9583882 rs771395532 |
751 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA406895425 rs1458347793 |
751 | N>S | No |
ClinGen gnomAD |
|
|
rs1195332367 CA406895447 |
752 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1425617723 CA406895580 |
757 | E>D | No |
ClinGen gnomAD |
|
|
CA406895823 rs1474764810 |
770 | R>Q | No |
ClinGen gnomAD |
|
|
CA9583901 rs769598908 |
775 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1370920170 CA406895929 |
775 | R>L | No |
ClinGen gnomAD |
|
|
CA406895945 rs1300344963 CA406895943 |
776 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs202117686 CA9583902 |
776 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406895951 rs1312903552 |
777 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9583905 rs775856870 |
785 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761984353 CA9583909 |
786 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA406896091 rs761984353 |
786 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs200832058 CA9583908 |
786 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1182953521 CA406896105 |
788 | F>L | No |
ClinGen TOPMed |
|
|
rs765469236 CA9583910 |
788 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750163728 CA9583911 |
789 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766267079 CA9583913 |
792 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972945709 CA309489669 |
793 | P>H | No |
ClinGen TOPMed |
|
|
rs1047264255 CA309489672 |
797 | H>Q | No |
ClinGen TOPMed |
|
|
rs372547781 CA9583914 |
798 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372547781 CA406896169 |
798 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185659825 CA406896175 |
799 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 799 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600245385 CA406896178 |
800 | D>A | No |
ClinGen Ensembl |
|
|
rs754979839 CA9583915 |
800 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA406896195 rs1434506009 |
802 | Q>H | No |
ClinGen gnomAD |
|
|
CA309489677 rs886850167 |
802 | Q>R | No |
ClinGen TOPMed |
|
|
CA9583916 rs780525110 |
803 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769681356 CA309491872 |
806 | A>T | No |
ClinGen Ensembl |
|
|
rs1336760848 CA406897171 |
806 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377162295 CA309491886 |
809 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA406897201 rs1251868747 |
809 | T>P | No |
ClinGen TOPMed |
|
|
CA9583943 rs781669506 |
810 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233000167 CA406897234 |
811 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406897242 rs1469168524 |
812 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406897253 rs1176049520 |
813 | A>T | No |
ClinGen gnomAD |
|
|
CA9583945 rs769855002 |
814 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA406897318 rs1416000482 |
818 | G>A | No |
ClinGen gnomAD |
|
|
rs1416000482 CA406897316 |
818 | G>D | No |
ClinGen gnomAD |
|
|
rs1568590428 CA406897311 |
818 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9583946 rs773315954 |
819 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1295641039 CA406897341 |
820 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 824 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406897394 rs1230464449 |
824 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 825 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406897398 rs1440107884 |
825 | V>M | No |
ClinGen gnomAD |
|
|
rs1296396204 CA406897406 |
826 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 826 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406897419 rs1292726335 |
828 | I>V | No |
ClinGen TOPMed |
|
|
rs997308373 CA309491903 |
829 | E>Q | No |
ClinGen TOPMed |
|
|
rs1341455840 CA406897477 |
833 | D>N | No |
ClinGen gnomAD |
|
|
rs949385041 CA309491910 |
834 | F>Y | No |
ClinGen Ensembl |
|
|
CA309491914 rs866200857 |
835 | L>M | No |
ClinGen Ensembl |
|
|
CA406897504 rs1201757963 |
835 | L>R | No |
ClinGen gnomAD |
|
|
rs759377459 CA9583951 |
836 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406897525 rs1187827414 |
837 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs767484979 CA9583952 |
838 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1255911257 CA406897533 |
838 | P>S | No |
ClinGen gnomAD |
|
|
rs372717083 CA309491936 |
841 | S>C | No |
ClinGen gnomAD |
|
|
CA406897568 rs1408298212 |
842 | V>M | No |
ClinGen gnomAD |
|
|
CA309491944 rs866939673 |
843 | R>C | No |
ClinGen gnomAD |
|
|
CA309491949 rs868618513 |
844 | F>L | No |
ClinGen gnomAD |
|
|
rs1318340230 CA406897597 |
845 | R>G | No |
ClinGen TOPMed |
|
|
CA406897694 rs539590706 |
849 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406897686 rs1568590762 |
849 | A>T | No |
ClinGen Ensembl |
|
|
CA9583974 rs539590706 |
849 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1191769064 CA406897705 |
850 | P>R | No |
ClinGen gnomAD |
|
|
CA9583975 rs558229310 |
850 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471143947 CA406897711 |
851 | Q>E | No |
ClinGen gnomAD |
|
|
CA406897722 rs1252824900 |
851 | Q>H | No |
ClinGen TOPMed |
|
|
rs1159056917 CA406897732 |
852 | A>G | No |
ClinGen gnomAD |
|
|
rs750080984 CA9583976 |
853 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327508493 CA406897753 |
854 | T>S | No |
ClinGen gnomAD |
|
|
rs866526823 CA309492106 |
855 | L>P | No |
ClinGen Ensembl |
|
|
CA406897759 rs1415353417 |
855 | L>V | No |
ClinGen gnomAD |
|
|
CA406897774 rs1439560763 |
856 | K>M | No |
ClinGen gnomAD |
|
|
CA309492129 rs746968213 |
860 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746968213 CA9583977 |
860 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9583979 rs767825513 |
867 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406897854 rs1348983464 |
867 | P>T | No |
ClinGen gnomAD |
|
|
CA9583980 rs753079150 |
868 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309492172 rs868659688 |
869 | E>* | No |
ClinGen Ensembl |
|
|
rs1230266461 CA406897872 |
870 | M>V | No |
ClinGen TOPMed |
|
|
rs1365648397 CA406897881 |
871 | A>P | No |
ClinGen TOPMed |
|
|
CA406897885 rs1252817990 |
871 | A>V | No |
ClinGen gnomAD |
|
|
rs778345113 CA9583982 |
872 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182522117 CA406897905 |
874 | D>E | No |
ClinGen gnomAD |
|
|
CA406897937 rs1600250034 |
879 | W>G | No |
ClinGen Ensembl |
|
|
rs757345865 CA9583984 |
880 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778908445 CA9583985 |
883 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA406897971 rs1460639482 |
883 | S>R | No |
ClinGen gnomAD |
|
|
rs746056839 CA9583986 |
884 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746056839 CA9583987 |
884 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769967275 CA9584015 |
885 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769967275 CA406897989 |
885 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1183052109 CA406897995 |
886 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs773977936 CA9584016 |
889 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9584018 rs764487680 |
890 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA309492322 rs979444139 |
892 | I>V | No |
ClinGen TOPMed |
|
|
rs1428786379 CA406898052 |
894 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1192001219 CA406898065 |
895 | A>V | No |
ClinGen gnomAD |
|
|
rs1568591238 CA406898068 |
896 | N>Y | No |
ClinGen Ensembl |
|
|
CA406898081 rs1436041212 |
897 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9584020 rs762341856 |
898 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs765666877 CA9584021 |
898 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765666877 CA406898085 |
898 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA309492344 rs959638772 |
899 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 899 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290961262 CA406898099 |
900 | D>A | No |
ClinGen gnomAD |
|
|
CA9584023 rs758537502 |
901 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295671271 CA406898105 |
901 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 902 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235034306 CA406898130 |
905 | K>T | No |
ClinGen gnomAD |
|
|
rs971158987 CA309492365 |
906 | A>G | No |
ClinGen Ensembl |
|
|
rs992800068 CA309492363 |
906 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1211136027 CA406898170 |
910 | G>R | No |
ClinGen TOPMed |
|
|
CA309492516 rs1031001898 |
915 | L>V | No |
ClinGen Ensembl |
|
|
rs749203502 CA9584054 |
917 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749203502 CA309492543 |
917 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757209939 CA406898252 |
922 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309492547 rs989751509 |
922 | N>S | No |
ClinGen TOPMed |
|
|
rs760160279 CA309492550 |
924 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1233594161 CA406898291 |
928 | G>E | No |
ClinGen gnomAD |
|
|
rs376520898 CA9584059 |
930 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1406027885 CA406898327 |
934 | T>A | No |
ClinGen TOPMed |
|
|
rs770250621 CA9584061 |
934 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9584062 rs773757799 |
935 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA406898339 rs1366053605 |
936 | A>T | No |
ClinGen TOPMed |
|
|
rs1475738493 CA406898347 |
937 | L>Q | No |
ClinGen gnomAD |
|
|
CA406898346 rs1167868405 |
937 | L>V | No |
ClinGen TOPMed |
|
|
CA406898351 rs1162898908 |
938 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1162898908 CA406898350 |
938 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1411829205 CA406898353 |
938 | Q>L | No |
ClinGen gnomAD |
|
|
CA406898358 rs1411755382 |
939 | V>M | No |
ClinGen gnomAD |
|
|
CA406898364 rs1568591760 |
940 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 942 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369337590 CA9584066 |
943 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283254918 CA406898401 |
944 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1415104401 CA406898398 |
944 | R>W | No |
ClinGen gnomAD |
|
|
rs1600251702 CA406898432 |
946 | E>G | No |
ClinGen Ensembl |
|
|
rs767706032 CA406898446 |
947 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767706032 CA9584067 |
947 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406898465 rs1344990885 |
948 | N>S | No |
ClinGen TOPMed |
|
|
CA9584090 rs561707757 |
954 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1229379406 CA406899350 |
955 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA406899348 rs1171912384 |
955 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1320828048 CA406899391 COSM1183125 |
959 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs758407736 CA9584093 |
959 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1432300878 CA406899407 |
960 | T>N | No |
ClinGen gnomAD |
|
|
CA406899416 rs779379351 |
961 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9584094 rs779379351 |
961 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9584096 rs754606619 |
964 | P>S | No |
ClinGen ExAC |
|
|
CA9584097 rs201666749 |
965 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9584098 rs113074233 |
967 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309492975 rs374108285 |
971 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746313173 CA9584101 |
974 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779961323 CA309492995 |
976 | Q>* | No |
ClinGen Ensembl |
No associated diseases with O95782
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| AP-2 adaptor complex | A heterotetrameric AP-type membrane coat adaptor complex that consists of alpha, beta2, mu2 and sigma2 subunits, and links clathrin to the membrane surface of a vesicle, and the cargo receptors during receptor/clathrin mediated endocytosis. Vesicles with AP-2-containing coats are normally found primarily near the plasma membrane, on endocytic vesicles. In at least humans, the AP-2 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different alpha genes (alphaA and alphaC). |
| clathrin coat of trans-Golgi network vesicle | A clathrin coat found on a vesicle of the trans-Golgi network. |
| clathrin-coated endocytic vesicle | A clathrin-coated, membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. |
| clathrin-coated endocytic vesicle membrane | The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endocytic vesicle membrane | The lipid bilayer surrounding an endocytic vesicle. |
| endolysosome membrane | The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome. |
| filopodium tip | The end of a filopodium distal to the body of the cell. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cargo adaptor activity | Binding directly to the structural scaffolding elements of a vesicle coat (such as clathrin or COPII), and bridging the membrane, cargo receptor, and membrane deformation machinery. |
| clathrin adaptor activity | Bringing together a cargo protein with clathrin, responsible for the formation of endocytic vesicles. |
| low-density lipoprotein particle receptor binding | Binding to a low-density lipoprotein receptor. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| clathrin-dependent endocytosis | An endocytosis process that begins when material is taken up into clathrin-coated pits, which then pinch off to form clathrin-coated endocytic vesicles. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| Golgi to endosome transport | The directed movement of substances from the Golgi to early sorting endosomes. Clathrin vesicles transport substances from the trans-Golgi to endosomes. |
| 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. |
| negative regulation of hyaluronan biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of hyaluronan biosynthetic process. |
| postsynaptic neurotransmitter receptor internalization | A receptor-mediated endocytosis process that results in the internalization of a neurotransmitter receptor from the postsynaptic membrane endocytic zone into an endocytic vesicle. |
| receptor-mediated endocytosis | An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPAVSKGDGM | RGLAVFISDI | RNCKSKEAEI | KRINKELANI | RSKFKGDKAL | DGYSKKKYVC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KLLFIFLLGH | DIDFGHMEAV | NLLSSNKYTE | KQIGYLFISV | LVNSNSELIR | LINNAIKNDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASRNPTFMCL | ALHCIANVGS | REMGEAFAAD | IPRILVAGDS | MDSVKQSAAL | CLLRLYKASP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DLVPMGEWTA | RVVHLLNDQH | MGVVTAAVSL | ITCLCKKNPD | DFKTCVSLAV | SRLSRIVSSA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| STDLQDYTYY | FVPAPWLSVK | LLRLLQCYPP | PEDAAVKGRL | VECLETVLNK | AQEPPKSKKV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QHSNAKNAIL | FETISLIIHY | DSEPNLLVRA | CNQLGQFLQH | RETNLRYLAL | ESMCTLASSE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FSHEAVKTHI | DTVINALKTE | RDVSVRQRAA | DLLYAMCDRS | NAKQIVSEML | RYLETADYAI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| REEIVLKVAI | LAEKYAVDYS | WYVDTILNLI | RIAGDYVSEE | VWYRVLQIVT | NRDDVQGYAA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KTVFEALQAP | ACHENMVKVG | GYILGEFGNL | IAGDPRSSPP | VQFSLLHSKF | HLCSVATRAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LLSTYIKFIN | LFPETKATIQ | GVLRAGSQLR | NADVELQQRA | VEYLTLSSVA | STDVLATVLE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EMPPFPERES | SILAKLKRKK | GPGAGSALDD | GRRDPSSNDI | NGGMEPTPST | VSTPSPSADL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LGLRAAPPPA | APPASAGAGN | LLVDVFDGPA | AQPSLGPTPE | EAFLSELEPP | APESPMALLA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DPAPAADPGP | EDIGPPIPEA | DELLNKFVCK | NNGVLFENQL | LQIGVKSEFR | QNLGRMYLFY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GNKTSVQFQN | FSPTVVHPGD | LQTQLAVQTK | RVAAQVDGGA | QVQQVLNIEC | LRDFLTPPLL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SVRFRYGGAP | QALTLKLPVT | INKFFQPTEM | AAQDFFQRWK | QLSLPQQEAQ | KIFKANHPMD |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AEVTKAKLLG | FGSALLDNVD | PNPENFVGAG | IIQTKALQVG | CLLRLEPNAQ | AQMYRLTLRT |
| 970 | |||||
| SKEPVSRHLC | ELLAQQF |