O43747
PR
Gene name |
AP1G1 (ADTG, CLAPG1) |
Protein name |
AP-1 complex subunit gamma-1 |
Names |
Adaptor protein complex AP-1 subunit gamma-1, Adaptor-related protein complex 1 subunit gamma-1, Clathrin assembly protein complex 1 gamma-1 large chain, Gamma1-adaptin, Golgi adaptor HA1/AP1 adaptin subunit gamma-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:164 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O43747
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1IU1 | X-ray | 180 A | A/B | 677-822 | PDB |
| AF-O43747-F1 | Predicted | AlphaFoldDB |
490 variants for O43747
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086350 | 15 | R>Q | USRISD; does not rescue morphological defects in a zebrafish animal model [UniProt] | Yes | UniProt |
| VAR_086351 | 35 | R>Q | USRISD; does not rescue morphological defects in a zebrafish animal model [UniProt] | Yes | UniProt |
| VAR_086352 | 35 | R>W | USRISD; does not rescue morphological defects in a zebrafish animal model [UniProt] | Yes | UniProt |
| VAR_086353 | 243 | P>H | USRISR; does not fully rescue morphological defects in a zebrafish animal model; affects trafficking of transferrin from early to recycling endosomes; no effect on subcellular location in the perinuclear region; does not affect interaction with AP-1 complex subunits AP1B1, AP1M1 and AP1S1 [UniProt] | Yes | UniProt |
|
VAR_086354 CA8156200 rs770797451 |
366 | M>V | USRISR; does not fully rescue morphological defects in a zebrafish animal model; affects trafficking of transferrin from recycling endosomes to plasma membrane; no effect on subcellular location in the perinuclear region; does not affect interaction with AP-1 complex subunits AP1B1, AP1M1 and AP1S1 [UniProt] | Yes |
ClinGen ExAC TOPMed gnomAD UniProt |
| VAR_086355 | 817 | P>R | USRISD; does not fully rescue morphological defects in a zebrafish animal model [UniProt] | Yes | UniProt |
|
rs928967350 CA283627438 |
3 | A>T | No |
ClinGen TOPMed |
|
|
CA8156647 rs776218451 |
5 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396673893 rs1567661278 |
7 | L>W | No |
ClinGen Ensembl |
|
|
CA396673886 rs1175705132 |
8 | R>Q | No |
ClinGen gnomAD |
|
|
CA396673831 rs1363944939 |
17 | A>V | No |
ClinGen gnomAD |
|
|
CA396673789 rs1484372439 |
24 | R>G | No |
ClinGen gnomAD |
|
|
CA283627388 rs1016141080 |
27 | I>M | No |
ClinGen TOPMed |
|
|
CA396673764 rs1217288528 |
27 | I>S | No |
ClinGen TOPMed |
|
|
CA8156642 rs748579049 |
27 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1281863838 CA396673738 |
31 | C>S | No |
ClinGen gnomAD |
|
|
rs960439219 CA283627383 |
33 | A>E | No |
ClinGen gnomAD |
|
|
CA396673714 rs1454551177 |
34 | I>M | No |
ClinGen gnomAD |
|
|
rs755237700 CA8156640 |
34 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA283627340 rs1001811363 |
41 | E>D | No |
ClinGen Ensembl |
|
|
rs780210853 CA8156638 |
41 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396673663 rs1188332338 |
42 | D>G | No |
ClinGen TOPMed |
|
|
rs780681943 CA283627335 |
43 | N>D | No |
ClinGen Ensembl |
|
|
rs756185826 CA8156637 |
43 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764186942 CA8156635 |
44 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1043416245 CA283627313 |
44 | T>I | No |
ClinGen Ensembl |
|
|
rs1415600904 CA396673640 |
46 | R>* | No |
ClinGen gnomAD |
|
|
rs1237297173 CA396673618 |
49 | N>I | No |
ClinGen gnomAD |
|
|
rs1446698167 CA396673613 |
50 | V>L | No |
ClinGen TOPMed |
|
|
rs1161858615 CA396673582 |
55 | Y>H | No |
ClinGen TOPMed |
|
|
rs1567661190 CA396673564 |
57 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161357441 CA396673524 |
63 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473958381 CA396673494 |
67 | Q>* | No |
ClinGen gnomAD |
|
|
rs17853584 CA283614115 |
71 | L>F | No |
ClinGen Ensembl |
|
|
CA8156601 rs760110224 |
72 | K>Q | No |
ClinGen ExAC |
|
| TCGA novel | 75 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 77 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396671786 rs1329683793 |
78 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs772515172 CA8156599 |
80 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1306941093 CA396671747 |
83 | R>C | No |
ClinGen gnomAD |
|
|
CA8156598 rs762334527 |
83 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA396671702 rs1439429467 |
90 | M>V | No |
ClinGen gnomAD |
|
|
rs1369564684 CA396671652 |
97 | Q>E | No |
ClinGen TOPMed |
|
|
CA8156593 rs770148831 |
98 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396671641 rs770148831 |
98 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745889361 CA8156592 COSM273999 |
99 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335697238 CA396671605 |
103 | M>I | No |
ClinGen TOPMed |
|
|
CA8156590 rs758371636 |
106 | C>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3818494 CA396671577 COSM3818493 rs1251249106 |
107 | I>M | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs372627967 CA8156589 |
109 | N>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
rs755939297 CA8156564 |
111 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030850184 CA396671459 |
112 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA283613299 rs1030850184 |
112 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8156563 rs750052848 |
114 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs750052848 CA396671428 |
114 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8156561 rs369782155 |
115 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396671393 rs572517944 |
116 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528090961 CA283613283 |
117 | F>L | No |
ClinGen gnomAD |
|
|
rs775957528 CA8156557 |
118 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs143490004 CA8156556 |
120 | G>A | No |
ClinGen ESP ExAC |
|
|
rs745789425 CA283613267 |
122 | A>P | No |
ClinGen Ensembl |
|
|
rs760749181 CA8156552 |
126 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396671232 rs1424850188 |
129 | M>V | No |
ClinGen TOPMed |
|
|
CA8156550 rs768597744 |
132 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769561103 CA8156547 |
141 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369387158 CA8156546 |
142 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1173018152 CA396671105 |
144 | K>N | No |
ClinGen TOPMed |
|
|
rs146312098 CA396671069 |
150 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8156545 rs146312098 |
150 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771767071 CA8156496 |
158 | A>E | No |
ClinGen ExAC |
|
|
rs771767071 CA396671000 |
158 | A>G | No |
ClinGen ExAC |
|
|
CA396670995 rs1349676429 |
159 | L>Q | No |
ClinGen gnomAD |
|
|
CA396670993 rs778596865 |
160 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs778596865 CA8156494 |
160 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs754575695 CA8156493 |
162 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA396670972 rs1414265657 |
163 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1224230238 CA396670926 |
170 | E>K | No |
ClinGen TOPMed |
|
|
rs780664621 CA8156491 |
172 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs944616570 CA396670896 |
174 | M>K | No |
ClinGen TOPMed |
|
|
CA283612005 rs944616570 |
174 | M>T | No |
ClinGen TOPMed |
|
|
rs756427229 CA8156490 |
174 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1157234672 CA396670877 |
176 | L>F | No |
ClinGen gnomAD |
|
|
rs750802908 CA396670876 |
177 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156488 rs767579863 |
177 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156489 rs750802908 |
177 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156486 rs751602784 |
178 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396670866 rs142324252 |
179 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8156485 rs142324252 |
179 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1047535330 CA283611947 |
180 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1047535330 CA396670862 |
180 | K>Q | No |
ClinGen TOPMed |
|
|
CA396670851 rs1231976195 |
181 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 181 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982911786 CA283611925 |
182 | L>F | No |
ClinGen Ensembl |
|
|
rs776420555 CA8156483 |
182 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1331419399 CA396670810 |
187 | N>H | No |
ClinGen gnomAD |
|
|
CA396670799 rs1331393550 |
188 | H>R | No |
ClinGen Ensembl |
|
|
CA8156466 rs758471813 |
193 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396670747 rs1325706581 |
194 | S>F | No |
ClinGen gnomAD |
|
|
CA283610979 VAR_048194 rs36037071 |
195 | V>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA396670737 rs1567653115 |
196 | V>A | No |
ClinGen Ensembl |
|
|
CA283610964 rs991441174 |
197 | L>F | No |
ClinGen TOPMed |
|
|
CA8156463 rs760695448 |
201 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM973377 CA396670682 rs1254154362 |
204 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1035549707 CA283610959 |
205 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs575140567 CA8156462 |
206 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396670657 rs1434795118 |
208 | M>L | No |
ClinGen TOPMed |
|
|
CA396670659 rs1434795118 |
208 | M>V | No |
ClinGen TOPMed |
|
|
CA396670642 rs1416722567 |
210 | A>S | No |
ClinGen gnomAD |
|
|
rs201798143 CA8156461 |
210 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156458 rs768427299 |
211 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464168850 CA396669932 |
218 | Q>P | No |
ClinGen TOPMed |
|
|
CA396669920 rs1412020371 |
220 | V>I | No |
ClinGen gnomAD |
|
|
rs770148749 CA8156366 COSM1379638 |
221 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759636117 CA8156365 |
221 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs776599723 CA8156364 |
222 | I>V | No |
ClinGen ExAC |
|
|
rs1187907636 CA396669874 |
227 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1446205988 CA396669867 |
228 | M>V | No |
ClinGen gnomAD |
|
|
rs748009738 CA8156362 |
230 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8156361 rs778964559 |
240 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8156345 rs760873711 |
248 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156343 COSM1189313 rs768590978 |
251 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8156344 rs774085362 |
251 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1323687194 CA396669664 |
256 | L>F | No |
ClinGen gnomAD |
|
|
CA8156341 rs775294073 |
256 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA396669655 rs1428976744 COSM252348 |
258 | R>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA396669654 rs1368646007 |
258 | R>Q | No |
ClinGen gnomAD |
|
|
CA396669635 rs1170180181 |
261 | D>N | No |
ClinGen gnomAD |
|
|
rs752483583 CA283607288 |
264 | S>G | No |
ClinGen Ensembl |
|
|
CA396669598 rs1179392430 |
266 | A>T | No |
ClinGen gnomAD |
|
|
rs1481016231 CA396669591 |
267 | M>V | No |
ClinGen gnomAD |
|
|
CA396669563 rs1449846051 |
270 | I>T | No |
ClinGen gnomAD |
|
|
CA396669566 rs1567650753 |
270 | I>V | No |
ClinGen Ensembl |
|
|
CA396669560 rs1190808103 |
271 | L>I | No |
ClinGen gnomAD |
|
|
rs1597058771 CA396669497 |
278 | T>S | No |
ClinGen Ensembl |
|
|
CA396669486 rs1171331014 |
280 | T>A | No |
ClinGen TOPMed |
|
|
CA396669484 rs1289723988 |
280 | T>S | No |
ClinGen gnomAD |
|
|
CA8156324 rs763979259 |
286 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA8156323 rs368384155 |
287 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396669378 COSM393289 rs1456956316 |
296 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs113141636 CA283607124 |
297 | M>V | No |
ClinGen Ensembl |
|
|
CA8156321 rs769565030 |
298 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1161498643 CA396669349 |
300 | K>E | No |
ClinGen gnomAD |
|
|
CA8156319 rs776081558 |
306 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396669290 rs1263221585 |
307 | V>I | No |
ClinGen gnomAD |
|
|
rs1223628095 CA396669280 |
308 | L>P | No |
ClinGen gnomAD |
|
|
rs1452180268 CA396669255 |
310 | I>T | No |
ClinGen TOPMed |
|
|
rs1290981287 CA396669261 |
310 | I>V | No |
ClinGen gnomAD |
|
|
rs1360108794 CA396669201 |
315 | R>C | No |
ClinGen gnomAD |
|
|
CA396669168 rs1296532970 |
317 | L>F | No |
ClinGen gnomAD |
|
|
rs1567649518 CA396669143 |
319 | N>S | No |
ClinGen Ensembl |
|
|
CA8156290 rs779499602 |
320 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA283600219 rs967656039 |
326 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 329 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143356205 CA8156272 |
336 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143356205 CA283600187 |
336 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396668774 rs1236153750 |
338 | T>K | No |
ClinGen TOPMed |
|
|
CA396668763 rs1254773989 |
340 | H>D | No |
ClinGen TOPMed |
|
|
CA8156269 rs780483876 |
341 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA396668715 rs1177518631 |
346 | H>Q | No |
ClinGen gnomAD |
|
|
CA8156265 COSM1245141 rs757495465 |
350 | I>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751600643 CA8156264 |
351 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA396668663 rs1338658125 |
354 | L>F | No |
ClinGen Ensembl |
|
|
CA8156263 rs777881822 |
355 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA283600172 rs1030218638 |
359 | V>I | No |
ClinGen Ensembl |
|
|
CA8156262 rs758460658 |
361 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs753805175 CA8156261 |
362 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772075818 CA283600163 |
363 | R>W | No |
ClinGen gnomAD |
|
|
CA396668585 rs1269321019 |
364 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1025054545 CA283598273 |
367 | E>D | No |
ClinGen TOPMed |
|
|
rs746779864 CA8156199 |
368 | L>S | No |
ClinGen ExAC |
|
| TCGA novel | 369 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396668537 rs1307650427 |
371 | A>V | No |
ClinGen gnomAD |
|
|
rs1169900968 CA396668519 |
374 | N>S | No |
ClinGen TOPMed |
|
|
rs376453980 CA8156197 |
376 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778605818 CA8156195 |
378 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs759614410 CA8156196 |
378 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1036594128 CA283598238 |
379 | R>G | No |
ClinGen Ensembl |
|
|
rs1409087501 CA396668488 |
379 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8156194 rs754421272 |
381 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766827918 CA8156192 |
382 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156191 rs761053234 |
382 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8156193 rs766827918 |
382 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283598207 rs940559244 |
385 | L>I | No |
ClinGen TOPMed |
|
|
rs750984692 CA8156190 |
387 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767757805 CA396668430 |
388 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA8156189 rs767757805 |
388 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA283598190 rs373149206 |
389 | L>V | No |
ClinGen ESP TOPMed |
|
|
CA8156187 rs774648742 |
391 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283598170 rs766277133 |
392 | C>Y | No |
ClinGen gnomAD |
|
|
CA283598165 rs113618963 |
393 | E>G | No |
ClinGen Ensembl |
|
|
rs1291212750 CA396668383 |
395 | E>A | No |
ClinGen TOPMed |
|
|
CA283598153 rs926585964 |
396 | F>C | No |
ClinGen Ensembl |
|
|
rs769958222 CA8156183 |
406 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769958222 CA283598147 |
406 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428319590 CA396668300 |
407 | A>G | No |
ClinGen TOPMed |
|
|
CA396668303 rs1263155471 |
407 | A>P | No |
ClinGen gnomAD |
|
|
rs1022568537 CA283598137 |
408 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396668298 rs1022568537 |
408 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA396668088 rs1216363126 |
410 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8156182 rs746899725 |
410 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs751994311 CA8156168 |
411 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA396668039 rs1247899572 |
414 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs140732017 CA8156166 |
416 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs985194791 CA283596528 |
419 | I>T | No |
ClinGen Ensembl |
|
|
CA8156165 rs147972156 |
419 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8156164 rs543661921 |
420 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759730332 CA8156163 |
422 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA396667928 rs1232280920 |
423 | M>T | No |
ClinGen TOPMed |
|
|
CA8156162 rs772958724 |
424 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA283596523 rs774004811 |
424 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376608642 CA8156161 |
428 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374438091 CA396667708 |
431 | S>G | No |
ClinGen gnomAD |
|
|
rs538556883 CA8156139 |
432 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761712527 CA8156140 |
432 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8156138 rs768433108 |
434 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA283594396 rs1022032856 |
434 | R>H | No |
ClinGen TOPMed |
|
|
rs1478348409 CA396667662 |
438 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs769507431 CA8156135 |
439 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156134 rs148838983 |
440 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148838983 CA396667649 |
440 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396667602 rs1322879086 |
447 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA396667603 rs1322879086 |
447 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780721886 CA396667588 |
448 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1225841406 CA396667586 |
449 | V>L | No |
ClinGen gnomAD |
|
|
rs747507044 CA8156131 |
451 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8156132 rs756877717 |
451 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA396667553 rs1449160622 |
453 | A>V | No |
ClinGen TOPMed |
|
|
CA8156130 rs571476399 |
454 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8156129 rs758771701 |
455 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753121711 CA8156128 |
457 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA8156127 rs546301531 |
458 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199593090 CA283594353 |
458 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199593090 CA8156126 |
458 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8156125 rs754052286 |
461 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1480684980 CA396667500 |
462 | A>G | No |
ClinGen gnomAD |
|
|
rs1480684980 CA396667499 |
462 | A>V | No |
ClinGen gnomAD |
|
|
rs1411144319 CA396667497 |
463 | I>V | No |
ClinGen gnomAD |
|
|
CA8156124 rs766430865 |
464 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760808998 CA8156123 |
465 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396667482 rs760808998 |
465 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156122 rs751430468 |
466 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA396667481 rs1196569287 |
466 | D>N | No |
ClinGen gnomAD |
|
|
CA8156121 rs764030505 |
467 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1205647315 CA396667470 |
467 | Y>F | No |
ClinGen gnomAD |
|
|
rs868015561 CA283594345 COSM1161172 |
469 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs369109806 CA8156100 |
471 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396667418 rs1325315149 |
473 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1325315149 CA396667419 |
473 | V>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 473 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8156099 rs759318227 |
475 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1162921986 CA396667397 |
477 | A>T | No |
ClinGen gnomAD |
|
|
rs770723179 CA8156097 |
479 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs949632077 CA396667373 |
480 | I>K | No |
ClinGen TOPMed |
|
|
CA283594228 rs949632077 |
480 | I>T | No |
ClinGen TOPMed |
|
|
rs760217309 CA8156096 |
480 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396667348 rs772883957 |
484 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8156095 rs772883957 |
484 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8156094 rs146740967 |
485 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396667328 rs1191132217 |
487 | L>F | No |
ClinGen gnomAD |
|
|
CA8156092 rs1555552189 |
488 | V>I | No |
ClinGen Ensembl |
|
|
rs748670937 CA8156091 |
489 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs375705286 CA283594198 |
492 | C>S | No |
ClinGen ESP TOPMed |
|
|
rs1222463777 CA396667294 |
492 | C>W | No |
ClinGen gnomAD |
|
|
rs1357706271 CA396667290 |
493 | E>G | No |
ClinGen gnomAD |
|
|
CA396667257 rs1246198366 |
497 | P>R | No |
ClinGen gnomAD |
|
|
rs369969308 CA8156088 |
498 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396667248 rs1267834612 |
499 | Q>E | No |
ClinGen gnomAD |
|
|
rs1432082273 CA396667005 |
503 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA396667011 rs1479707132 |
503 | D>V | No |
ClinGen gnomAD |
|
|
CA396667002 rs1192339763 |
504 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396666928 rs1469923413 |
508 | I>T | No |
ClinGen gnomAD |
|
|
CA283593162 rs541196245 |
510 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8156064 rs541196245 |
510 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574008147 CA396666886 |
511 | S>C | No |
ClinGen 1000Genomes TOPMed |
|
|
rs574008147 CA283593149 |
511 | S>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs915980014 CA283593145 |
511 | S>T | No |
ClinGen TOPMed |
|
|
rs1206130353 CA396666865 |
512 | V>A | No |
ClinGen gnomAD |
|
|
rs747114230 CA8156063 |
514 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs778884765 CA8156062 |
514 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs754908632 CA8156061 CA396666823 |
517 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396666828 rs1471108794 |
517 | M>V | No |
ClinGen gnomAD |
|
|
rs991939518 CA283593132 |
518 | S>C | No |
ClinGen TOPMed |
|
|
rs753853470 CA396666815 |
519 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396666813 rs766223590 |
519 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8156059 rs766223590 |
519 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753853470 CA8156060 |
519 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555677572 CA8156057 |
522 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8156056 rs767136204 |
522 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA8156055 rs761365716 |
523 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8156054 rs773774894 |
524 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA396666792 rs1401313946 |
524 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199963410 CA8156053 |
527 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575979559 CA8156050 |
530 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775990635 CA8156051 |
530 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs975001622 CA396666704 |
537 | F>L | No |
ClinGen gnomAD |
|
|
CA8156048 rs776897766 |
538 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA396666690 rs1404298547 |
540 | T>A | No |
ClinGen TOPMed |
|
|
rs747077165 CA283593070 |
541 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747077165 CA8156046 |
541 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396266186 CA396666676 |
542 | N>S | No |
ClinGen TOPMed |
|
|
CA8156023 rs376889684 |
543 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 546 | K>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396666331 rs1368683673 |
547 | V>A | No |
ClinGen gnomAD |
|
|
CA8156021 rs774153086 |
550 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143357071 CA8156022 |
550 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396666296 rs1373164643 |
551 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 563 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396666156 rs1305798193 |
566 | Y>H | No |
ClinGen gnomAD |
|
|
CA396666136 rs1354340974 |
568 | A>V | No |
ClinGen TOPMed |
|
|
CA8156015 rs759993372 |
571 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754388627 CA8156014 |
573 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1407135730 CA396666099 |
574 | D>N | No |
ClinGen gnomAD |
|
|
rs761173171 CA396666090 |
575 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1297223288 CA396666088 |
575 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761173171 CA8156012 |
575 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773296455 CA8156011 |
576 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs773296455 CA396666083 |
576 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA283592378 rs201956869 |
577 | R>G | No |
ClinGen 1000Genomes |
|
|
CA8155989 rs764203051 |
578 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763159600 CA8155988 |
580 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565343527 CA8155987 |
581 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 583 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8155986 rs573600980 |
584 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8155985 rs746748251 |
585 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325160374 CA396665857 |
587 | M>I | No |
ClinGen gnomAD |
|
|
CA8155984 rs184164120 |
590 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141140724 CA8155983 |
593 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141140724 CA396665791 |
593 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396665778 rs1597040319 |
594 | G>S | No |
ClinGen Ensembl |
|
|
rs747736800 CA8155982 |
596 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8155981 rs754436607 |
596 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8155980 rs754436607 |
596 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 598 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371959936 CA8155979 |
599 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200932775 CA396665697 |
601 | T>A | No |
ClinGen TOPMed |
|
|
rs756606786 CA8155977 |
603 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA396665647 CA8155976 rs750991172 |
604 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1220061795 CA396665629 |
606 | E>K | No |
ClinGen TOPMed |
|
|
CA396665583 rs1199639905 |
609 | P>L | No |
ClinGen TOPMed |
|
|
CA396665571 rs1444255920 |
611 | E>Q | No |
ClinGen gnomAD |
|
|
rs1013709119 CA283592039 |
612 | T>I | No |
ClinGen Ensembl |
|
|
rs1597040278 CA396665557 |
612 | T>P | No |
ClinGen Ensembl |
|
|
rs757701097 CA396665535 |
613 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283592036 rs896157880 |
614 | P>L | No |
ClinGen TOPMed |
|
|
CA396665513 rs1443146220 |
615 | P>L | No |
ClinGen gnomAD |
|
|
CA396665509 rs1397028674 |
616 | P>S | No |
ClinGen TOPMed |
|
|
CA8155969 rs775676810 |
617 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs762919438 CA8155970 |
617 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs762919438 CA8155971 |
617 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1352230052 CA396665482 |
618 | G>V | No |
ClinGen Ensembl |
|
|
CA8155968 rs765262760 |
621 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA283592033 rs940201324 |
622 | T>A | No |
ClinGen TOPMed |
|
|
rs940201324 CA396665461 |
622 | T>P | No |
ClinGen TOPMed |
|
|
CA8155945 rs761569412 |
626 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538768040 CA8155944 |
627 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8155941 rs571680998 |
634 | G>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1185123443 CA396665226 |
635 | N>D | No |
ClinGen TOPMed |
|
|
CA396665195 COSM973365 rs1168629865 |
637 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1041303298 CA283591970 |
639 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs781758741 CA8155938 |
641 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747548077 CA8155936 |
642 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs778148831 CA8155935 |
643 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8155934 rs192683860 |
644 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs779066232 CA8155932 |
645 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200795405 CA8155931 |
646 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396665091 rs1221657044 |
646 | T>S | No |
ClinGen gnomAD |
|
|
rs1437384912 CA396665046 |
649 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8155929 rs138355091 |
649 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138355091 CA396665043 |
649 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 649 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757140476 CA8155928 |
650 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1467227203 CA396665017 |
652 | A>T | No |
ClinGen gnomAD |
|
|
CA8155927 rs751468480 |
653 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs762724915 CA8155925 |
657 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA396664906 rs1427626919 |
661 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149947940 CA8155924 |
662 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470010784 CA396664875 |
663 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs543136921 CA8155923 |
664 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543136921 CA8155922 |
664 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375735707 CA283591943 |
665 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375735707 CA8155921 |
665 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350777277 CA396664850 |
666 | T>A | No |
ClinGen TOPMed |
|
|
rs1567642342 CA396664845 |
666 | T>R | No |
ClinGen Ensembl |
|
|
rs1354683644 CA396663999 |
668 | A>P | No |
ClinGen gnomAD |
|
|
rs760166875 CA8155898 |
668 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773752475 CA8155897 |
669 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396663975 rs1381499563 |
670 | A>T | No |
ClinGen gnomAD |
|
|
CA8155895 rs748724071 |
671 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8155896 rs748724071 |
671 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774653648 CA8155894 |
671 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA396663951 rs1192217832 |
672 | A>V | No |
ClinGen gnomAD |
|
|
CA8155893 rs769024495 |
673 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347827508 CA396663933 |
673 | P>L | No |
ClinGen TOPMed |
|
|
rs1384207025 CA396663917 |
675 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 678 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162318535 CA396663874 |
678 | V>F | No |
ClinGen gnomAD |
|
|
CA396663857 rs370705469 |
679 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA283589644 rs370705469 |
679 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8155891 rs780323477 |
680 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8155890 rs756176079 |
682 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396663822 rs756176079 |
682 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8155889 rs745984075 |
683 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA396663808 rs745984075 |
683 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8155888 rs368123748 |
684 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396663789 rs1217056627 |
684 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA283589637 rs368123748 |
684 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs904763 VAR_013572 CA8155885 |
685 | P>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs904763 CA8155887 |
685 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs904763 CA8155886 |
685 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8155884 rs754821337 |
686 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396663772 rs1483500687 |
686 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1218503716 CA396663737 |
688 | L>S | No |
ClinGen gnomAD |
|
|
rs766188692 CA396663722 |
689 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8155882 rs766188692 |
689 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA396663711 rs1280723631 |
690 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 692 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283589601 rs200015789 |
694 | Q>H | No |
ClinGen 1000Genomes |
|
|
rs1241923034 CA396663647 |
695 | P>S | No |
ClinGen TOPMed |
|
|
CA396663642 rs1208480824 |
696 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749863603 CA396663631 |
697 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374070303 CA8155881 |
697 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1291388724 CA396663629 |
698 | N>D | No |
ClinGen gnomAD |
|
|
rs767078707 CA8155879 |
698 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396663607 rs1301932274 |
700 | I>L | No |
ClinGen gnomAD |
|
|
rs762173399 CA8155878 |
700 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396663592 rs1411104649 |
701 | A>T | No |
ClinGen TOPMed |
|
|
CA283589509 rs987310197 |
703 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 703 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 708 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332217095 CA396663395 |
711 | S>N | No |
ClinGen TOPMed |
|
|
CA8155855 rs371210759 |
711 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759618982 CA8155853 |
717 | I>L | No |
ClinGen ExAC |
|
| TCGA novel | 720 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344925772 CA396663159 |
722 | E>Q | No |
ClinGen gnomAD |
|
|
CA396663130 rs1254828486 |
723 | R>W | No |
ClinGen gnomAD |
|
|
rs1235863502 CA396663100 |
725 | N>D | No |
ClinGen gnomAD |
|
|
CA283589476 rs775506298 |
729 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM973362 CA396663002 rs997098328 |
730 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA283589475 rs997098328 |
730 | V>L | No |
ClinGen TOPMed |
|
|
rs575676400 CA8155851 |
731 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8155850 rs747139378 |
734 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs201379952 CA8155848 |
735 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396662933 rs1310453651 |
737 | A>T | No |
ClinGen TOPMed |
|
|
CA396662864 rs1347732228 |
746 | T>M | No |
ClinGen TOPMed |
|
|
rs755945949 CA8155845 |
750 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 753 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757907315 CA8155819 |
758 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396662509 rs1245337684 |
759 | Q>R | No |
ClinGen gnomAD |
|
|
CA283587113 CA396662493 rs1049750769 |
761 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1597029283 CA396662478 |
764 | S>T | No |
ClinGen Ensembl |
|
|
rs1340936497 CA396662420 |
772 | A>G | No |
ClinGen gnomAD |
|
|
CA8155815 rs754266370 |
775 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1356430962 CA396662335 |
779 | T>I | No |
ClinGen TOPMed |
|
|
rs778752916 CA8155812 |
780 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 782 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396662300 rs1462094902 |
782 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 783 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283587063 rs868485317 |
783 | K>R | No |
ClinGen Ensembl |
|
|
CA8155811 rs767705344 |
785 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1597029245 CA396662252 |
786 | N>T | No |
ClinGen Ensembl |
|
|
rs762045308 CA8155810 |
787 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769810675 CA8155808 |
788 | Q>K | No |
ClinGen ExAC |
|
| TCGA novel | 789 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745825146 CA8155807 |
789 | K>R | No |
ClinGen ExAC |
|
|
COSM1379632 rs781714640 CA8155777 |
795 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 795 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781693456 CA283586328 |
796 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8155775 rs764166650 |
801 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8155774 rs764166650 |
801 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413087564 CA396660533 |
802 | H>N | No |
ClinGen gnomAD |
|
|
rs899085166 CA283586315 |
803 | K>N | No |
ClinGen TOPMed |
|
|
CA396660504 rs1427729670 |
803 | K>R | No |
ClinGen gnomAD |
|
|
rs1567637398 CA396660446 |
807 | M>V | No |
ClinGen Ensembl |
|
|
rs753761796 CA8155772 |
809 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs766353180 COSM1493730 CA396660395 |
810 | L>I | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766353180 CA396660393 |
810 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597027985 CA396660375 |
811 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 814 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8155770 rs527422540 |
818 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396660244 rs1207987091 |
819 | Q>E | No |
ClinGen gnomAD |
|
|
rs1443891640 CA396660200 |
821 | W>C | No |
ClinGen gnomAD |
2 associated diseases with O43747
[MIM: 619467]: Usmani-Riazuddin syndrome, autosomal dominant (USRISD)
A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619548]: Usmani-Riazuddin syndrome, autosomal recessive (USRISR)
A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for O43747
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| AP-1 adaptor complex | A heterotetrameric AP-type membrane coat adaptor complex that consists of beta1, gamma, mu1 and sigma1 subunits and links clathrin to the membrane surface of a vesicle; vesicles with AP-1-containing coats are normally found primarily in the trans-Golgi network. In at least humans, the AP-1 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different genes (gamma1 and gamma2, mu1A and mu1B, and sigma1A, sigma1B and sigma1C). |
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| clathrin-coated vesicle membrane | The lipid bilayer surrounding a clathrin-coated vesicle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
5 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. |
| GTP-dependent protein binding | Binding to a protein or protein complex when at least one of the interacting partners is in the GTP-bound state. |
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
| small GTPase binding | Binding to a small monomeric GTPase. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| basolateral protein secretion | The controlled release of proteins from a cell at the sides which interface adjacent cells and near the base. |
| endosome to melanosome transport | The directed movement of substances from endosomes to the melanosome, a specialised lysosome-related organelle. |
| Golgi to lysosome transport | The directed movement of substances from the Golgi to lysosomes. |
| Golgi to vacuole transport | The directed movement of substances from the Golgi to the vacuole. |
| 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. |
| melanosome assembly | The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| melanosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| platelet dense granule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet dense granule. A platelet dense granule is an electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. |
| positive regulation of natural killer cell degranulation | Any process that activates or increases the frequency, rate or extent of natural killer cell degranulation. |
| positive regulation of natural killer cell mediated cytotoxicity | Any process that activates or increases the frequency, rate or extent of natural killer cell mediated cytotoxicity. |
| 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 |
| MPAPIRLREL | IRTIRTARTQ | AEEREMIQKE | CAAIRSSFRE | EDNTYRCRNV | AKLLYMHMLG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YPAHFGQLEC | LKLIASQKFT | DKRIGYLGAM | LLLDERQDVH | LLMTNCIKND | LNHSTQFVQG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LALCTLGCMG | SSEMCRDLAG | EVEKLLKTSN | SYLRKKAALC | AVHVIRKVPE | LMEMFLPATK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLLNEKNHGV | LHTSVVLLTE | MCERSPDMLA | HFRKLVPQLV | RILKNLIMSG | YSPEHDVSGI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SDPFLQVRIL | RLLRILGRND | DDSSEAMNDI | LAQVATNTET | SKNVGNAILY | ETVLTIMDIK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SESGLRVLAI | NILGRFLLNN | DKNIRYVALT | SLLKTVQTDH | NAVQRHRSTI | VDCLKDLDVS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IKRRAMELSF | ALVNGNNIRG | MMKELLYFLD | SCEPEFKADC | ASGIFLAAEK | YAPSKRWHID |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TIMRVLTTAG | SYVRDDAVPN | LIQLITNSVE | MHAYTVQRLY | KAILGDYSQQ | PLVQVAAWCI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GEYGDLLVSG | QCEEEEPIQV | TEDEVLDILE | SVLISNMSTS | VTRGYALTAI | MKLSTRFTCT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VNRIKKVVSI | YGSSIDVELQ | QRAVEYNALF | KKYDHMRSAL | LERMPVMEKV | TTNGPTEIVQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TNGETEPAPL | ETKPPPSGPQ | PTSQANDLLD | LLGGNDITPV | IPTAPTSKPS | SAGGELLDLL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GDINLTGAPA | AAPAPASVPQ | ISQPPFLLDG | LSSQPLFNDI | AAGIPSITAY | SKNGLKIEFT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FERSNTNPSV | TVITIQASNS | TELDMTDFVF | QAAVPKTFQL | QLLSPSSSIV | PAFNTGTITQ |
| 790 | 800 | 810 | 820 | ||
| VIKVLNPQKQ | QLRMRIKLTY | NHKGSAMQDL | AEVNNFPPQS | WQ |