Q9UL62
PR
Gene name |
TRPC5 (TRP5) |
Protein name |
Short transient receptor potential channel 5 |
Names |
TrpC5, Transient receptor protein 5, TRP-5, hTRP-5, hTRP5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7224 |
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
10 structures for Q9UL62
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6YSN | EM | 300 A | A/B/C/D | 1-765 | PDB |
| 7D4P | EM | 270 A | A/B/C/D | 1-764 | PDB |
| 7D4Q | EM | 274 A | A/B/C/D | 1-764 | PDB |
| 7E4T | EM | 300 A | A/B/C/D | 1-764 | PDB |
| 7WDB | EM | 240 A | A/B/C/D | 1-764 | PDB |
| 7X6C | EM | 315 A | A/B/C/D | 1-765 | PDB |
| 7X6I | EM | 393 A | A/B/C/D | 1-765 | PDB |
| 8GVW | EM | 359 A | A/B/C/D | 1-765 | PDB |
| 8GVX | EM | 391 A | A/B/C/D | 1-765 | PDB |
| AF-Q9UL62-F1 | Predicted | AlphaFoldDB |
390 variants for Q9UL62
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1925852905 RCV001260812 |
175 | R>C | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1322380364 CA414299030 |
2 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399062124 CA414298997 |
7 | K>Q | No |
ClinGen gnomAD |
|
|
rs774158098 CA10494467 |
8 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10494466 rs763628339 |
9 | V>F | No |
ClinGen ExAC |
|
|
rs775447821 CA10494464 |
10 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10494462 rs745641312 |
12 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450691471 CA414298953 |
13 | P>L | No |
ClinGen gnomAD |
|
|
rs1376543525 CA414298948 |
14 | Y>C | No |
ClinGen gnomAD |
|
|
rs1212984661 CA414298952 |
14 | Y>H | No |
ClinGen gnomAD |
|
|
CA10494459 rs199916064 |
17 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs779139729 CA10494458 |
17 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779139729 COSM3964595 CA414298926 |
17 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA414298913 rs1364570202 COSM1113271 |
19 | P>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 20 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229020207 CA414298875 |
25 | A>G | No |
ClinGen gnomAD |
|
|
rs780580577 CA10494455 |
28 | E>K | No |
ClinGen ExAC |
|
|
rs756647283 CA10494454 |
31 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA10494453 rs371123848 |
32 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 39 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414298756 CA414298755 RCV000996007 rs1324452012 |
43 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 44 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016808594 CA334461810 |
45 | Y>F | No |
ClinGen Ensembl |
|
|
rs1405051404 CA414298733 |
46 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170918142 CA414298702 |
50 | Q>H | No |
ClinGen gnomAD |
|
|
CA334461808 rs867373717 |
52 | L>H | No |
ClinGen Ensembl |
|
|
CA10494451 rs757699174 |
53 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10494450 rs751215394 |
57 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1246849191 CA414298652 |
58 | Y>C | No |
ClinGen gnomAD |
|
|
CA414298629 rs1489745278 |
61 | V>F | No |
ClinGen gnomAD |
|
|
rs759447025 CA10494445 |
66 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770674583 CA10494443 |
71 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1477388562 CA414298552 |
72 | S>N | No |
ClinGen gnomAD |
|
|
rs1310111223 CA414298492 |
81 | E>K | No |
ClinGen gnomAD |
|
|
CA414298447 rs1416706712 |
87 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779715044 CA10494439 |
93 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs780056943 CA414298402 |
94 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780056943 CA10494438 |
94 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA334461807 rs935631568 |
96 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 101 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414298351 COSM129924 rs1482603747 |
102 | Y>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1346166663 CA414298329 |
105 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1459235969 COSM3694181 CA414298328 |
105 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs879228015 CA334461806 |
107 | E>G | No |
ClinGen Ensembl |
|
|
rs1319118574 CA414298309 |
108 | V>L | No |
ClinGen TOPMed |
|
|
rs185834452 CA10494434 |
110 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10494432 rs763804253 |
111 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1222929602 CA414298293 |
111 | A>T | No |
ClinGen gnomAD |
|
|
CA414298232 rs1453439794 |
120 | R>Q | No |
ClinGen TOPMed |
|
|
rs1410735076 CA414298234 |
120 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1308863725 CA414298222 |
122 | S>G | No |
ClinGen gnomAD |
|
|
rs143012451 CA414298216 |
122 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs946778338 CA334461804 |
123 | G>A | No |
ClinGen Ensembl |
|
|
COSM1268669 CA334461805 rs755743430 |
123 | G>R | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA414298210 rs1450677614 |
124 | E>Q | No |
ClinGen gnomAD |
|
|
CA414298195 rs764592256 |
126 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA10494429 rs764592256 |
126 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs138627086 CA10494415 |
128 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747641543 CA10494411 |
129 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747641543 CA10494412 |
129 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747641543 CA10494413 |
129 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10494410 rs753432176 |
131 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA414300214 rs1337134056 |
131 | M>T | No |
ClinGen TOPMed |
|
|
CA414300198 rs1424106571 |
133 | D>G | No |
ClinGen gnomAD |
|
|
CA10494409 rs766304172 |
133 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778578106 CA10494408 |
134 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA334458653 rs1029718064 |
135 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1249940297 CA414300170 |
137 | S>C | No |
ClinGen gnomAD |
|
|
rs767234928 CA10494406 |
146 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1224147604 CA414300108 |
146 | I>M | No |
ClinGen gnomAD |
|
|
rs767234928 CA414300112 |
146 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10494405 rs761696830 |
150 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775524027 CA10494404 |
152 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10494403 rs749694789 COSM170176 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1555703 CA414300025 rs1603095290 |
158 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 163 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299020204 CA414299984 |
164 | K>R | No |
ClinGen gnomAD |
|
|
CA414299980 rs1381104201 |
165 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414299965 rs1359261050 |
167 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10494402 rs759502577 |
170 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM390700 CA414299950 rs1352935977 |
170 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs962685683 CA334458650 |
175 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 179 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 180 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964019754 CA334458649 |
180 | E>K | No |
ClinGen TOPMed |
|
|
CA10494400 CA414299867 rs771546935 |
182 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017382170 CA334458648 |
184 | S>I | No |
ClinGen TOPMed |
|
|
CA10494399 rs747458007 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1464990 rs1390654922 CA414299807 |
191 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1192392851 CA414299804 |
192 | H>N | No |
ClinGen gnomAD |
|
|
rs1427995258 CA414299788 |
194 | R>C | No |
ClinGen gnomAD |
|
|
CA10494398 rs778427076 |
194 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1488953311 CA414299766 |
198 | N>S | No |
ClinGen gnomAD |
|
|
rs1361368920 CA414299760 |
199 | I>V | No |
ClinGen TOPMed |
|
|
rs1206451193 CA414299690 |
209 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 212 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259197390 CA414299675 |
212 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 213 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334458646 rs971521994 |
216 | P>S | No |
ClinGen Ensembl |
|
|
rs754729916 CA10494394 COSM271706 |
222 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754729916 CA414299604 |
222 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10494392 rs779482496 |
225 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs145338486 CA414299531 |
233 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145338486 CA10494391 |
233 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 248 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455405998 CA414299390 |
251 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 256 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481335597 CA414299354 |
257 | D>A | No |
ClinGen gnomAD |
|
|
CA10494387 rs751410674 |
260 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140314400 CA10494385 |
263 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10494383 rs766496616 |
268 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1195705592 CA414299271 |
270 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10494381 rs773835603 |
272 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA414299246 rs1603095127 COSM324008 |
273 | D>V | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10494380 rs772678097 |
274 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs748461174 CA414299236 |
275 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748461174 CA10494379 |
275 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768916869 CA10494377 |
284 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1007066264 CA334458644 |
285 | H>Q | No |
ClinGen Ensembl |
|
|
rs748873728 CA10494376 |
285 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA334458643 rs865929243 |
288 | A>T | No |
ClinGen Ensembl |
|
|
CA414299135 rs1389494166 |
289 | K>R | No |
ClinGen gnomAD |
|
|
CA414299109 rs1258385913 |
293 | A>T | No |
ClinGen TOPMed |
|
|
CA334458642 rs891176124 |
297 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 324 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1176449 rs1253771465 CA414297185 |
324 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199893191 CA10494358 |
328 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414297135 rs1270828505 |
331 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10494356 rs745375109 |
333 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs770360282 CA10494354 |
336 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA414297095 rs1223188508 |
337 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA414297037 rs1315726119 |
346 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758216294 CA10494351 |
355 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs752581138 CA10494350 |
356 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175238416 CA414296921 |
363 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 374 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441788797 CA414296796 |
380 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414296795 rs1569526602 |
381 | L>I | No |
ClinGen Ensembl |
|
|
CA10494346 rs767571116 |
382 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 395 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334454417 rs867464484 |
397 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 398 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462698731 CA414296663 |
401 | T>A | No |
ClinGen gnomAD |
|
|
CA414296638 rs1276739123 |
403 | V>M | No |
ClinGen TOPMed |
|
|
CA10494340 rs769418930 |
408 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA414296501 rs1278287789 |
412 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770434093 CA10494337 |
412 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA414296396 rs751628350 |
414 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262644016 CA414296371 |
416 | W>L | No |
ClinGen gnomAD |
|
|
rs764576820 CA10494324 |
419 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334454342 COSM1723753 rs866964490 |
421 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs868363579 CA334454341 |
423 | W>* | No |
ClinGen Ensembl |
|
|
CA414296257 rs1316681009 |
424 | D>H | No |
ClinGen gnomAD |
|
|
CA414296237 rs1282647778 |
425 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1314982323 CA414296188 |
429 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10494321 rs767844784 |
434 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759848043 CA334454339 |
436 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1603056965 CA414295905 |
448 | A>T | No |
ClinGen Ensembl |
|
|
rs1165190739 CA414295883 |
449 | T>I | No |
ClinGen gnomAD |
|
|
rs760229280 CA10494317 |
450 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs867965357 CA334454338 |
451 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 451 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051655216 CA334454337 |
459 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1569526493 CA414294643 |
460 | Y>C | No |
ClinGen Ensembl |
|
|
rs1338428886 CA414294617 |
464 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755345906 CA10494302 |
464 | R>L | No |
ClinGen ExAC |
|
| TCGA novel | 465 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463505789 CA414294604 |
466 | R>M | No |
ClinGen gnomAD |
|
|
rs1463505789 CA414294605 |
466 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766043491 CA10494300 |
471 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1603054577 CA414294541 |
474 | P>S | No |
ClinGen Ensembl |
|
|
rs3027721 CA10494297 |
480 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA334454010 rs3027721 |
480 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145559629 CA10494295 |
483 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768518458 CA10494294 |
484 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs749102820 CA10494293 COSM201151 |
490 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs775204265 CA10494292 |
492 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1010020042 CA334454007 |
492 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM1464988 CA10494290 rs747130444 |
512 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1223807230 CA414294298 |
512 | R>H | Variant assessed as Somatic; 0.0001876 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs28470854 CA334454006 |
521 | L>P | No |
ClinGen Ensembl |
|
|
CA10494287 rs748274840 |
523 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM610390 rs3027722 CA334454005 |
524 | Y>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 526 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10494285 rs755498083 |
531 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 532 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 537 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10494284 rs182198293 |
538 | L>P | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 539 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398280754 CA414294104 |
541 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 542 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334454003 rs867789297 COSM3556903 |
543 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10494283 rs139935364 |
546 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414294061 rs756533089 |
547 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414294066 rs1409041682 |
547 | I>V | No |
ClinGen TOPMed |
|
|
CA414294028 rs1197137590 |
552 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 557 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414293979 rs1251781803 |
559 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334454002 rs868033516 |
566 | S>P | No |
ClinGen Ensembl |
|
|
rs767331495 CA10494280 |
567 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1264510317 CA414293917 |
567 | T>M | No |
ClinGen gnomAD |
|
|
rs372771959 CA334453093 |
573 | Q>* | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 573 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 575 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 577 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414293476 rs1276061241 |
590 | V>M | No |
ClinGen gnomAD |
|
|
CA10494262 rs772319589 |
591 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA334453092 rs1050959481 |
591 | K>R | No |
ClinGen TOPMed |
|
|
rs778802286 COSM1113257 CA10494260 |
595 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA334453091 rs866122157 |
601 | G>E | No |
ClinGen Ensembl |
|
|
rs780637789 CA10494257 |
604 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 607 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750861309 CA10494255 |
609 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10494251 rs763441736 |
623 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 630 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752528061 | 632 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs989441960 CA334448750 |
637 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 652 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10494232 rs752289748 |
659 | P>L | No |
ClinGen ExAC gnomAD |
|
| VAR_069415 | 667 | P>T | found in a patient with severe delayed speech, autism spectrum and Gilles de la Tourette disorders [UniProt] | No | UniProt |
|
CA10494231 rs765080790 |
669 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs759412912 CA10494230 |
672 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 674 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753781653 CA10494229 |
676 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1269395065 CA414297856 COSM610392 |
677 | F>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1275052666 CA414297819 |
682 | C>G | No |
ClinGen gnomAD |
|
|
rs1049428305 CA414297804 |
684 | K>E | No |
ClinGen gnomAD |
|
|
rs1049428305 CA334448748 |
684 | K>Q | No |
ClinGen gnomAD |
|
|
CA10494227 rs377382653 |
687 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA334448747 rs773057521 |
687 | P>R | No |
ClinGen TOPMed |
|
|
rs774418465 CA414297770 |
689 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs764422069 CA414297768 |
689 | G>D | No |
ClinGen ExAC |
|
|
CA10494225 rs774418465 |
689 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764422069 CA10494224 COSM1113255 |
689 | G>V | kidney endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA10494222 rs771982549 |
691 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10494223 rs148725512 COSM356347 |
691 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10494221 rs200308169 |
694 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1113254 rs144130119 CA10494220 |
694 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA414297730 rs1331458940 |
696 | L>V | No |
ClinGen gnomAD |
|
|
rs777304323 CA10494219 |
697 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201851253 CA10494208 |
702 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414297676 rs201851253 |
702 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10494207 VAR_052369 rs36047478 |
702 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA334448693 rs747368106 |
703 | N>S | No |
ClinGen Ensembl |
|
|
rs373545304 CA10494206 |
705 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222957749 CA414297630 |
709 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 712 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 718 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949529760 CA334448548 |
728 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 729 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414297438 rs1603023839 |
734 | T>A | No |
ClinGen Ensembl |
|
|
rs145407228 CA10494186 |
738 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414296608 rs1459630831 |
748 | Q>E | No |
ClinGen TOPMed |
|
|
rs1161747961 CA414296588 |
749 | D>A | No |
ClinGen TOPMed |
|
|
rs1367848683 CA414296547 |
752 | S>I | No |
ClinGen gnomAD |
|
|
CA414296521 rs1390069891 |
754 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 758 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 762 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10494169 rs748787765 |
763 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414296394 rs779484548 |
766 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414296390 rs1421832863 |
767 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 770 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414296321 rs1261533752 |
772 | T>A | No |
ClinGen gnomAD |
|
|
CA10494166 rs780639960 |
773 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs781011549 CA10494165 |
776 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs140693756 CA10494164 |
777 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10494163 rs751436451 |
778 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10494162 rs368796480 |
779 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217687662 CA414296229 |
779 | Q>R | No |
ClinGen gnomAD |
|
|
rs1338109300 CA414296220 |
780 | R>G | No |
ClinGen gnomAD |
|
|
CA414296125 rs1569524986 |
786 | G>D | No |
ClinGen Ensembl |
|
|
CA414296095 rs1322164342 |
788 | G>D | No |
ClinGen TOPMed |
|
|
CA414296085 rs1246524728 |
789 | G>A | No |
ClinGen TOPMed |
|
|
rs1405351560 CA414296093 |
789 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 789 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 790 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374332395 CA414296063 |
791 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10494157 rs374332395 |
791 | R>Q | Variant assessed as Somatic; 6.257e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138566611 COSM3694282 CA10494159 |
791 | R>W | Variant assessed as Somatic; 6.258e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10494156 rs767950264 |
792 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414296062 rs767950264 |
792 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 795 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569524983 CA414296013 |
795 | K>R | No |
ClinGen Ensembl |
|
|
CA414296003 rs1425969797 |
796 | S>C | No |
ClinGen TOPMed |
|
|
rs1018336868 CA334448402 |
805 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762530403 CA10494152 |
809 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA10494153 rs372279403 |
809 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA334448401 rs372279403 |
809 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414295803 rs1161467178 |
810 | G>E | No |
ClinGen TOPMed |
|
|
rs1357245184 CA414295796 |
811 | P>A | No |
ClinGen gnomAD |
|
|
rs1282380362 CA414295745 |
815 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1190041980 CA414295733 |
816 | T>I | No |
ClinGen gnomAD |
|
|
rs1481313258 CA414295726 |
817 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10494150 rs769294761 |
821 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs745416632 CA10494149 |
823 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA10494148 rs781150815 |
829 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746785594 CA10494146 |
830 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA10494144 rs758271516 |
834 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs745527465 CA10494143 |
835 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414295608 rs1444092136 |
835 | R>H | No |
ClinGen gnomAD |
|
|
rs780188840 CA10494142 |
836 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10494141 rs756189660 |
838 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10494140 rs750536849 |
839 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10494138 COSM1113249 rs757706545 |
847 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA334448397 rs374654411 |
847 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 849 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334448396 rs112519663 |
853 | N>S | No |
ClinGen Ensembl |
|
|
CA334448394 rs1049285259 |
856 | M>T | No |
ClinGen TOPMed |
|
|
CA334448395 rs891108085 |
856 | M>V | No |
ClinGen Ensembl |
|
|
rs1603022730 CA414295463 |
857 | S>F | No |
ClinGen Ensembl |
|
|
rs1228413829 CA414295452 |
859 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 861 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334448393 rs929882755 |
864 | M>I | No |
ClinGen TOPMed |
|
|
rs764405132 CA10494136 |
864 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 867 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334448392 rs745391902 |
870 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 871 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414295363 rs1466867108 |
872 | V>A | No |
ClinGen gnomAD |
|
|
rs775181506 CA10494134 |
873 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1257148283 CA414295335 |
876 | C>R | No |
ClinGen TOPMed |
|
|
rs1197330153 CA414295334 |
876 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs144699143 CA10494133 |
877 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473048556 CA414295302 |
880 | D>Y | No |
ClinGen TOPMed |
|
|
rs370637682 CA10494131 |
884 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10494130 rs770489196 |
886 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414295236 rs1409839854 |
889 | G>R | No |
ClinGen TOPMed |
|
|
rs140690062 CA10494129 |
892 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10494127 rs771971648 |
893 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA10494128 rs367779214 |
893 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 893 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414295180 rs1467349675 |
897 | S>N | No |
ClinGen TOPMed |
|
|
CA414295156 rs1317386398 |
900 | N>K | No |
ClinGen gnomAD |
|
|
rs183309627 CA10494125 |
900 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10494124 rs756351736 |
903 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1569524971 CA414295135 |
903 | E>V | No |
ClinGen Ensembl |
|
|
CA10494123 rs746117899 |
904 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 905 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 908 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781070736 CA10494122 |
908 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10494121 rs757362797 |
910 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1401800718 CA414295079 |
912 | A>S | No |
ClinGen gnomAD |
|
|
rs1401800718 CA414295081 |
912 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 913 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764629984 CA10494119 |
914 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1302537416 CA414295065 |
914 | Q>H | No |
ClinGen TOPMed |
|
|
CA10494118 rs758728487 |
914 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231446968 CA414295018 |
921 | A>S | No |
ClinGen TOPMed |
|
|
rs764927930 CA10494116 |
922 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA10494115 rs759050409 |
922 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs374262468 CA334448391 |
923 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1187678923 CA414294994 |
925 | S>P | No |
ClinGen gnomAD |
|
|
CA10494114 rs756966599 |
928 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs765945797 CA10494113 |
929 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773252572 CA10494111 |
930 | S>P | No |
ClinGen ExAC |
|
|
rs1285209468 CA414294912 |
937 | S>F | No |
ClinGen gnomAD |
|
|
CA10494109 rs747944567 |
938 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 938 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317194515 CA414294876 |
942 | S>F | No |
ClinGen gnomAD |
|
|
rs1569524966 CA414294880 |
942 | S>P | No |
ClinGen Ensembl |
|
|
rs1332442807 CA414294854 |
945 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA414294849 rs1384268966 |
946 | V>A | No |
ClinGen gnomAD |
|
|
rs746041362 CA10494105 |
947 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA414294808 rs1376826144 |
952 | E>A | No |
ClinGen TOPMed |
|
|
CA10494103 rs757301931 |
954 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA10494104 rs757301931 |
954 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs747127607 CA10494102 |
955 | D>G | No |
ClinGen ExAC |
|
|
TCGA novel CA10494101 rs778245918 |
958 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs147748171 CA334448389 |
964 | G>E | No |
ClinGen ESP TOPMed |
|
|
rs1194960473 CA414294680 |
970 | T>A | No |
ClinGen gnomAD |
|
|
rs779078346 CA10494098 |
972 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10494097 rs779338255 |
972 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779338255 CA334448388 |
972 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q9UL62
4 regional properties for Q9UL62
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 38 - 118 | IPR002110-1 |
| repeat | Ankyrin repeat | 141 - 170 | IPR002110-2 |
| domain | Ion transport domain | 376 - 635 | IPR005821 |
| domain | Transient receptor ion channel domain | 176 - 238 | IPR013555 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| calcium channel complex | An ion channel complex through which calcium ions pass. |
| cation channel complex | An ion channel complex through which cations pass. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actinin binding | Binding to actinin, any member of a family of proteins that crosslink F-actin. |
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| inositol 1,4,5 trisphosphate binding | Binding to inositol 1,4,5 trisphosphate. |
| store-operated calcium channel activity | A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion transmembrane transport | A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| calcium ion transport | The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| manganese ion transport | The directed movement of manganese (Mn) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of dendrite morphogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of dendrite morphogenesis. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| neuron apoptotic process | Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| phosphatidylserine exposure on apoptotic cell surface | A phospholipid scrambling process that results in the appearance of phosphatidylserine on the outer leaflet of the plasma membrane of an apoptotic cell, which acts as an 'eat-me' signal for engulfing cells. Phosphatidylserine is exposed on the apoptotic cell surface by a phospholipid scramblase activity. |
| positive regulation of axon extension | Any process that activates or increases the frequency, rate or extent of axon extension. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of cytosolic calcium ion concentration | Any process that increases the concentration of calcium ions in the cytosol. |
| positive regulation of neuron differentiation | Any process that activates or increases the frequency, rate or extent of neuron differentiation. |
| positive regulation of peptidyl-threonine phosphorylation | Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| regulation of cytosolic calcium ion concentration | Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
| regulation of membrane hyperpolarization | Any process that modulates the frequency, rate or extent of membrane hyperpolarization. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18784 | TRPC1 | Short transient receptor potential channel 1 | Bos taurus (Bovine) | PR |
| P79100 | TRPC4 | Short transient receptor potential channel 4 | Bos taurus (Bovine) | PR |
| P19334 | trp | Transient receptor potential protein | Drosophila melanogaster (Fruit fly) | PR |
| P48994 | trpl | Transient-receptor-potential-like protein | Drosophila melanogaster (Fruit fly) | PR |
| Q9HCX4 | TRPC7 | Short transient receptor potential channel 7 | Homo sapiens (Human) | PR |
| Q13507 | TRPC3 | Short transient receptor potential channel 3 | Homo sapiens (Human) | PR |
| Q9Y210 | TRPC6 | Short transient receptor potential channel 6 | Homo sapiens (Human) | PR |
| P48995 | TRPC1 | Short transient receptor potential channel 1 | Homo sapiens (Human) | PR |
| Q9UBN4 | TRPC4 | Short transient receptor potential channel 4 | Homo sapiens (Human) | PR |
| Q9WVC5 | Trpc7 | Short transient receptor potential channel 7 | Mus musculus (Mouse) | PR |
| Q9QZC1 | Trpc3 | Short transient receptor potential channel 3 | Mus musculus (Mouse) | PR |
| Q9QUQ5 | Trpc4 | Short transient receptor potential channel 4 | Mus musculus (Mouse) | PR |
| Q61143 | Trpc6 | Short transient receptor potential channel 6 | Mus musculus (Mouse) | PR |
| Q9R244 | Trpc2 | Short transient receptor potential channel 2 | Mus musculus (Mouse) | PR |
| Q61056 | Trpc1 | Short transient receptor potential channel 1 | Mus musculus (Mouse) | PR |
| Q9QX29 | Trpc5 | Short transient receptor potential channel 5 | Mus musculus (Mouse) | PR |
| Q9QX01 | Trpc1 | Short transient receptor potential channel 1 | Rattus norvegicus (Rat) | PR |
| O35119 | Trpc4 | Short transient receptor potential channel 4 | Rattus norvegicus (Rat) | PR |
| Q9JMI9 | Trpc3 | Short transient receptor potential channel 3 | Rattus norvegicus (Rat) | PR |
| Q9R283 | Trpc2 | Short transient receptor potential channel 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQLYYKKVN | YSPYRDRIPL | QIVRAETELS | AEEKAFLNAV | EKGDYATVKQ | ALQEAEIYYN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VNINCMDPLG | RSALLIAIEN | ENLEIMELLL | NHSVYVGDAL | LYAIRKEVVG | AVELLLSYRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PSGEKQVPTL | MMDTQFSEFT | PDITPIMLAA | HTNNYEIIKL | LVQKRVTIPR | PHQIRCNCVE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CVSSSEVDSL | RHSRSRLNIY | KALASPSLIA | LSSEDPILTA | FRLGWELKEL | SKVENEFKAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YEELSQQCKL | FAKDLLDQAR | SSRELEIILN | HRDDHSEELD | PQKYHDLAKL | KVAIKYHQKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FVAQPNCQQL | LATLWYDGFP | GWRRKHWVVK | LLTCMTIGFL | FPMLSIAYLI | SPRSNLGLFI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KKPFIKFICH | TASYLTFLFM | LLLASQHIVR | TDLHVQGPPP | TVVEWMILPW | VLGFIWGEIK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EMWDGGFTEY | IHDWWNLMDF | AMNSLYLATI | SLKIVAYVKY | NGSRPREEWE | MWHPTLIAEA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LFAISNILSS | LRLISLFTAN | SHLGPLQISL | GRMLLDILKF | LFIYCLVLLA | FANGLNQLYF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YYETRAIDEP | NNCKGIRCEK | QNNAFSTLFE | TLQSLFWSVF | GLLNLYVTNV | KARHEFTEFV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GATMFGTYNV | ISLVVLLNML | IAMMNNSYQL | IADHADIEWK | FARTKLWMSY | FDEGGTLPPP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FNIIPSPKSF | LYLGNWFNNT | FCPKRDPDGR | RRRRNLRSFT | ERNADSLIQN | QHYQEVIRNL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VKRYVAAMIR | NSKTHEGLTE | ENFKELKQDI | SSFRYEVLDL | LGNRKHPRSF | STSSTELSQR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DDNNDGSGGA | RAKSKSVSFN | LGCKKKTCHG | PPLIRTMPRS | SGAQGKSKAE | SSSKRSFMGP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SLKKLGLLFS | KFNGHMSEPS | SEPMYTISDG | IVQQHCMWQD | IRYSQMEKGK | AEACSQSEIN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LSEVELGEVQ | GAAQSSECPL | ACSSSLHCAS | SICSSNSKLL | DSSEDVFETW | GEACDLLMHK |
| 970 | |||||
| WGDGQEEQVT | TRL |