Q5JS13
PR
Gene name |
RALGPS1 (KIAA0351, RALGEF2) |
Protein name |
Ras-specific guanine nucleotide-releasing factor RalGPS1 |
Names |
Ral GEF with PH domain and SH3-binding motif 1, Ral guanine nucleotide exchange factor 2, RalGEF 2, RalA exchange factor RalGPS1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9649 |
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 Q5JS13
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3QXL | X-ray | 224 A | A/B | 23-289 | PDB |
| AF-Q5JS13-F1 | Predicted | AlphaFoldDB |
295 variants for Q5JS13
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA375161520 rs1304128635 |
2 | Y>C | No |
ClinGen TOPMed |
|
|
rs1387403668 CA375161533 |
3 | K>T | No |
ClinGen TOPMed |
|
|
rs1390163884 CA375161543 |
4 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755362515 CA5243049 |
5 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA375161567 rs1271474782 |
6 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144538015 CA5243050 |
10 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200225367 rs747576179 |
11 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA375161642 rs1588668584 |
13 | V>G | No |
ClinGen Ensembl |
|
|
CA375161634 rs1361364663 |
13 | V>I | No |
ClinGen gnomAD |
|
|
rs1588668620 CA375161644 |
14 | T>P | No |
ClinGen Ensembl |
|
|
CA200225368 rs78360705 |
14 | T>S | No |
ClinGen Ensembl |
|
|
rs1488108962 CA375161656 |
15 | S>Y | No |
ClinGen gnomAD |
|
|
CA375161669 rs1431318768 |
16 | A>G | No |
ClinGen TOPMed |
|
|
CA375161662 rs1213901833 |
16 | A>T | No |
ClinGen gnomAD |
|
|
CA5243054 rs745393050 |
17 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5243056 rs147837585 |
19 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199928245 CA5243081 |
20 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753863247 CA5243082 |
21 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1472233672 COSM291613 COSM291612 CA375162012 |
22 | S>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5243083 rs755182642 |
24 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1326265122 CA375162049 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs376798704 CA200225794 |
29 | G>V | No |
ClinGen ESP |
|
|
CA375162076 rs1236588705 |
31 | S>R | No |
ClinGen TOPMed |
|
|
CA5243086 rs758804203 |
33 | D>G | No |
ClinGen ExAC |
|
|
CA5243087 rs371196451 |
34 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371196451 CA375162096 |
34 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223108942 CA375162103 |
35 | A>V | No |
ClinGen gnomAD |
|
|
rs1261400159 CA375162125 |
38 | S>N | No |
ClinGen gnomAD |
|
|
CA5243089 rs374751575 |
42 | V>I | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1327077064 CA375162180 |
45 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 54 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773742176 CA5243105 |
63 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1263289903 CA375164459 |
64 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375164468 rs1168416921 |
65 | V>A | No |
ClinGen gnomAD |
|
|
rs199960808 CA5243106 |
67 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5243107 rs375139774 |
71 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5243134 rs777380945 |
77 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA375167407 rs1169314847 |
80 | S>G | No |
ClinGen Ensembl |
|
|
CA5243135 rs61758793 |
80 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781097829 CA5243137 |
83 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1369288629 CA375167446 |
85 | H>Y | No |
ClinGen TOPMed |
|
|
rs769777927 CA5243139 |
86 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1202337726 CA375167454 |
86 | S>T | No |
ClinGen gnomAD |
|
|
rs1158612554 CA375167467 |
88 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1158612554 CA375167465 |
88 | A>T | No |
ClinGen gnomAD |
|
|
rs1480796232 CA375167476 |
89 | P>L | No |
ClinGen gnomAD |
|
|
CA375167478 rs1309583227 |
90 | N>D | No |
ClinGen TOPMed |
|
|
rs146032431 CA5243141 |
91 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5243142 rs376156148 |
93 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM175909 rs767763549 CA5243145 COSM175908 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5243144 rs762196220 |
96 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427976796 CA375167573 |
102 | S>G | No |
ClinGen gnomAD |
|
|
CA200234923 rs879068262 |
106 | V>A | No |
ClinGen Ensembl |
|
|
CA200234922 rs939742183 |
106 | V>I | No |
ClinGen Ensembl |
|
|
COSM141277 CA5243164 rs756598562 |
107 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA375167622 rs1312741281 |
109 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5243165 rs140485601 |
111 | T>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1230257496 CA375167649 |
113 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs984366851 CA200234925 |
116 | K>Q | No |
ClinGen TOPMed |
|
|
rs778033944 CA5243167 |
117 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754911211 CA375167808 |
135 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5243199 rs754911211 |
135 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015123599 CA200235237 |
141 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778967112 CA5243200 |
152 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5243201 rs752613882 |
153 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1396707697 CA375167927 |
153 | I>V | No |
ClinGen TOPMed |
|
|
CA375167975 rs1163577450 |
160 | W>* | No |
ClinGen TOPMed |
|
|
rs758499755 CA5243202 |
161 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375168021 rs1189476442 |
165 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1371224449 CA375168056 |
170 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772741562 CA5243230 |
175 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA375168097 rs746491549 |
175 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5243232 rs770602569 |
176 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1298891091 CA375168118 |
178 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231242495 CA375168111 |
178 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 181 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375168167 rs1266794844 |
185 | K>* | No |
ClinGen gnomAD |
|
|
CA375168169 rs1356475234 |
185 | K>R | No |
ClinGen gnomAD |
|
|
CA5243236 rs188642356 |
186 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375168174 rs1204075868 |
186 | R>W | No |
ClinGen gnomAD |
|
|
rs1466244028 CA375168179 |
187 | T>A | No |
ClinGen gnomAD |
|
|
rs762906803 CA5243237 |
188 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 191 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375168211 rs1554816084 |
192 | R>* | No |
ClinGen Ensembl |
|
|
CA5243238 rs550974318 |
192 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375168251 rs1264622155 |
198 | P>S | No |
ClinGen TOPMed |
|
|
CA5243239 rs766151367 |
201 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA375168273 rs1188039171 |
201 | P>S | No |
ClinGen gnomAD |
|
|
rs746445600 CA200236951 |
202 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375173034 rs1269101222 |
214 | D>N | No |
ClinGen gnomAD |
|
|
rs562936466 CA5243604 |
219 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA200247343 rs562936466 |
219 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5243605 rs763061429 |
221 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5243606 rs764280405 |
223 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1211656976 CA375173099 |
224 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs751839755 CA5243607 |
225 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA375173126 rs1470007475 |
227 | E>G | No |
ClinGen gnomAD |
|
|
CA5243608 rs757556656 |
231 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA375173153 rs1372611708 |
231 | N>S | No |
ClinGen gnomAD |
|
|
rs757095577 CA200247344 |
237 | L>I | No |
ClinGen Ensembl |
|
|
rs781621744 CA5243609 COSM1460066 COSM1460067 |
238 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA375173203 rs1420924263 |
238 | R>Q | No |
ClinGen gnomAD |
|
|
rs1161162957 CA375173208 |
239 | I>L | No |
ClinGen gnomAD |
|
|
CA375173214 rs1461376136 |
240 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 243 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530706814 CA5243610 |
245 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA375173259 COSM1701744 rs1441217010 COSM1701743 |
246 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1328907347 CA375173272 |
248 | S>T | No |
ClinGen TOPMed |
|
|
rs1392506891 CA375173280 |
249 | Y>C | No |
ClinGen TOPMed |
|
|
rs1450765195 CA375173299 |
250 | D>A | No |
ClinGen TOPMed |
|
|
CA375173359 rs1446874828 |
259 | Q>R | No |
ClinGen TOPMed |
|
|
CA375173399 rs1185869526 |
265 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5243634 rs754451190 |
266 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375173405 rs754451190 |
266 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757917831 CA5243635 |
266 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375173409 rs1367480250 |
267 | Y>H | No |
ClinGen TOPMed |
|
|
rs756387322 CA200247610 |
272 | Q>* | No |
ClinGen Ensembl |
|
|
rs746597242 CA5243637 |
275 | V>M | No |
ClinGen ExAC |
|
|
rs1158840802 CA375173489 |
278 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780747976 CA5243639 |
279 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779836653 CA5243659 |
282 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768611508 CA5243662 |
287 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1180146463 CA375173659 |
288 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs55918931 CA5243663 VAR_061785 |
290 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5243664 rs748233372 |
291 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5243665 rs772097571 |
293 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773476550 CA5243666 |
296 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200248274 rs867404070 |
297 | S>F | No |
ClinGen TOPMed |
|
|
rs1353176912 CA375173747 |
302 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1353176912 CA375173745 |
302 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1199740627 CA375173753 |
303 | A>E | No |
ClinGen gnomAD |
|
|
rs968007014 CA200248275 |
303 | A>T | No |
ClinGen TOPMed |
|
|
rs1378168110 CA375175255 |
305 | P>H | No |
ClinGen gnomAD |
|
|
CA375175271 rs751614500 |
307 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5243721 rs751614500 |
307 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375175306 rs183996093 |
310 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183996093 CA375175304 |
310 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183996093 CA5243724 |
310 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756319072 CA5243725 |
312 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200250648 rs937258252 |
316 | R>Q | No |
ClinGen gnomAD |
|
|
rs376980807 CA5243727 |
316 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375175360 rs1374962692 |
317 | R>S | No |
ClinGen gnomAD |
|
|
CA5243729 rs774831236 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347291935 CA375175386 |
322 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375175395 rs1251191858 |
323 | T>A | No |
ClinGen TOPMed |
|
|
CA5243730 rs748654995 |
325 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375175418 rs1346318689 |
327 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1346318689 CA375175417 |
327 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199975640 CA5243732 |
330 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199975640 CA375175441 |
330 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5243734 rs140649865 |
331 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5243735 rs140649865 |
331 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759129382 CA5243733 |
331 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA200250649 rs866294400 |
333 | P>L | No |
ClinGen Ensembl |
|
|
rs763986402 CA5243737 |
337 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375175509 rs1461363487 |
341 | H>R | No |
ClinGen gnomAD |
|
|
CA5243740 rs767662666 |
346 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 346 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564769477 CA375175544 |
346 | N>S | No |
ClinGen Ensembl |
|
|
CA375175570 rs1190552747 |
348 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375175569 rs1190552747 |
348 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5243765 rs779206964 |
349 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA5243766 rs779206964 |
349 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs941614989 CA200250778 |
349 | C>Y | No |
ClinGen Ensembl |
|
|
rs1223250961 CA375175602 |
352 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA375175600 rs1223250961 |
352 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA375175611 rs1588498632 |
354 | V>I | No |
ClinGen Ensembl |
|
|
CA375175621 rs1265631411 |
355 | E>G | No |
ClinGen gnomAD |
|
|
CA200250779 rs1051049786 COSM1105274 |
359 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA375175658 rs1478066879 |
360 | T>I | No |
ClinGen gnomAD |
|
|
CA5243768 rs778142204 |
360 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA375175672 rs1470119275 |
362 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1186971398 CA375175676 |
363 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA200250780 rs945209720 |
365 | K>* | No |
ClinGen TOPMed |
|
|
CA375175693 rs1422318807 |
365 | K>N | No |
ClinGen gnomAD |
|
|
CA375175700 rs1167226192 |
367 | R>G | No |
ClinGen gnomAD |
|
|
CA375175709 rs1350667174 |
368 | H>Y | No |
ClinGen gnomAD |
|
|
CA5243771 rs779639127 |
370 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5243772 rs748911357 |
372 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1474048965 CA375175747 |
374 | V>I | No |
ClinGen TOPMed |
|
|
CA375175771 rs1377483533 |
377 | S>Y | No |
ClinGen gnomAD |
|
|
CA5243773 rs143821397 |
378 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200250783 rs780576252 |
378 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 381 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375175793 rs201112886 |
381 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM421962 rs201112886 CA5243775 |
381 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM150717 rs57728614 CA5243776 |
383 | G>C | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375175816 rs1158666861 |
385 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1267235274 CA375175824 |
387 | T>A | No |
ClinGen TOPMed |
|
|
CA5243779 rs369116810 |
388 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1013573378 CA200250784 |
388 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1182223651 CA375175833 |
389 | S>P | No |
ClinGen gnomAD |
|
|
CA5243780 rs766319233 |
390 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5243781 rs776801370 |
392 | V>I | No |
ClinGen ExAC |
|
|
rs759664181 CA5243782 |
393 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA200250785 rs998492186 |
394 | N>K | No |
ClinGen Ensembl |
|
|
CA5243783 rs765434003 |
394 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375175871 rs1382198340 |
396 | L>I | No |
ClinGen gnomAD |
|
|
CA5243806 rs757609549 |
400 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA375175907 rs757609549 |
400 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5243808 rs140744639 |
405 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1279637609 CA375175986 |
410 | M>K | No |
ClinGen gnomAD |
|
|
rs754467577 CA5243809 |
411 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5243811 rs747753916 |
413 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5243810 rs778580359 |
413 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs200357764 CA5243835 |
417 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375171769 rs1157054200 |
417 | P>S | No |
ClinGen TOPMed |
|
|
rs150086774 CA200252604 |
418 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs528083367 CA5243836 |
418 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5243838 rs749371441 |
419 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1002321850 CA200252605 |
419 | G>S | No |
ClinGen Ensembl |
|
|
CA375171783 rs1406498764 |
420 | P>A | No |
ClinGen gnomAD |
|
|
rs768682056 CA5243839 |
420 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5243841 rs761950604 |
422 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs201198965 CA5243842 |
423 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013200613 CA200252606 |
428 | S>T | No |
ClinGen Ensembl |
|
|
rs766967837 CA5243845 |
429 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1564805537 CA375171848 |
431 | V>M | No |
ClinGen Ensembl |
|
|
CA375171855 rs754372755 |
432 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5243846 rs754372755 |
432 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564805619 CA375171868 |
434 | M>T | No |
ClinGen Ensembl |
|
|
CA5243848 rs763525725 |
434 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA375171900 rs1226070942 |
439 | R>K | No |
ClinGen TOPMed |
|
|
CA375171923 rs1349447487 |
442 | T>I | No |
ClinGen TOPMed |
|
|
CA375171920 rs1588595497 |
442 | T>P | No |
ClinGen Ensembl |
|
|
CA5243852 rs750200504 |
446 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs141209519 CA5243854 |
448 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5243853 rs755963750 |
448 | R>W | Variant assessed as Somatic; 4.695e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA200252607 rs1001083884 |
450 | P>L | No |
ClinGen TOPMed |
|
|
rs1477407589 CA375171977 |
451 | A>V | No |
ClinGen gnomAD |
|
|
rs766947491 CA200252643 |
454 | S>L | No |
ClinGen Ensembl |
|
|
rs1361313114 CA375172022 |
456 | T>I | No |
ClinGen TOPMed |
|
|
rs1449246705 CA375172019 |
456 | T>S | No |
ClinGen TOPMed |
|
|
rs201112223 CA5243877 |
464 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747249739 CA5243878 |
465 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375172083 rs1588598429 |
466 | T>A | No |
ClinGen Ensembl |
|
|
CA375172088 rs1032269388 |
467 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA200252644 rs1032269388 |
467 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5243881 rs780021238 |
471 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138132214 CA5243882 |
472 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5243884 rs749075271 |
476 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5243883 rs776124423 |
476 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA375172151 rs1265214013 |
477 | G>D | No |
ClinGen gnomAD |
|
|
rs767016076 CA5243885 |
478 | T>A | No |
ClinGen ExAC gnomAD |
|
| rs149497407 | 482 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776401253 CA5243907 |
487 | P>R | No |
ClinGen ExAC |
|
|
rs759246220 CA5243908 |
490 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765095745 CA5243909 |
491 | V>L | No |
ClinGen ExAC |
|
| TCGA novel | 492 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588600624 CA375172277 |
494 | V>M | No |
ClinGen Ensembl |
|
|
rs1280727618 CA375172286 |
495 | G>D | No |
ClinGen gnomAD |
|
|
CA375172302 rs1415594164 |
497 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763015701 CA5243911 |
501 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1299070016 CA375172329 |
502 | D>N | No |
ClinGen gnomAD |
|
|
CA375172344 rs1325484236 |
503 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1163953360 CA375172345 |
504 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA200252663 rs199937278 |
505 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs1457433682 CA375172380 |
509 | I>V | No |
ClinGen gnomAD |
|
|
rs757419778 CA5243914 |
511 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA375172419 rs1234628902 |
514 | N>S | No |
ClinGen gnomAD |
|
|
rs1386866604 CA375172424 |
515 | P>A | No |
ClinGen TOPMed |
|
|
rs1405434182 COSM1196669 COSM1196668 CA375172476 |
520 | V>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs751618566 CA5243931 |
522 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA375172489 rs1297467243 |
522 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA200252844 rs866278448 |
524 | Q>R | No |
ClinGen Ensembl |
|
|
CA200252845 rs946916580 |
526 | G>V | No |
ClinGen Ensembl |
|
|
CA200252846 rs1036838525 |
528 | R>P | No |
ClinGen TOPMed |
|
|
CA5243932 rs761735864 |
530 | H>Q | No |
ClinGen ExAC |
|
|
CA375172550 rs1165893053 |
532 | I>V | No |
ClinGen TOPMed |
|
|
CA5243933 rs767644899 |
540 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA375172622 rs1362259969 |
542 | C>S | No |
ClinGen gnomAD |
|
|
rs756385847 CA5243935 |
544 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375172654 rs1263074398 |
546 | R>W | No |
ClinGen gnomAD |
|
|
rs1445696310 CA375172664 |
547 | P>L | No |
ClinGen gnomAD |
|
|
rs368997146 CA200252848 |
547 | P>S | No |
ClinGen ESP gnomAD |
|
|
CA200253287 rs763889559 |
549 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375172900 rs200288518 |
550 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200288518 CA5243958 |
550 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217682822 CA375172905 |
551 | A>T | No |
ClinGen gnomAD |
|
|
CA375172910 rs1564817888 |
551 | A>V | No |
ClinGen Ensembl |
|
|
rs753564457 CA200253288 |
552 | N>D | No |
ClinGen Ensembl |
|
|
CA5243959 rs755266834 |
554 | M>T | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5JS13
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
| regulation of Ral protein signal transduction | Any process that modulates the frequency, rate or extent of Ral protein signal transduction. |
30 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6N9I4 | RASGRP2 | RAS guanyl-releasing protein 2 | Bos taurus (Bovine) | SS |
| Q1LZ97 | RASGRP4 | RAS guanyl-releasing protein 4 | Bos taurus (Bovine) | SS |
| A0A3S5ZPR1 | RASGRP3 | RAS guanyl releasing protein 3 | Gallus gallus (Chicken) | SS |
| P26675 | Sos | Protein son of sevenless | Drosophila melanogaster (Fruit fly) | SS |
| Q07890 | SOS2 | Son of sevenless homolog 2 | Homo sapiens (Human) | SS |
| Q07889 | SOS1 | Son of sevenless homolog 1 | Homo sapiens (Human) | EV |
| Q13905 | RAPGEF1 | Rap guanine nucleotide exchange factor 1 | Homo sapiens (Human) | PR |
| O95398 | RAPGEF3 | Rap guanine nucleotide exchange factor 3 | Homo sapiens (Human) | EV |
| Q8WZA2 | RAPGEF4 | Rap guanine nucleotide exchange factor 4 | Homo sapiens (Human) | SS |
| Q8N431 | RASGEF1C | Ras-GEF domain-containing family member 1C | Homo sapiens (Human) | PR |
| Q8N9B8 | RASGEF1A | Ras-GEF domain-containing family member 1A | Homo sapiens (Human) | PR |
| Q8IZJ4 | RGL4 | Ral-GDS-related protein | Homo sapiens (Human) | PR |
| Q12967 | RALGDS | Ral guanine nucleotide dissociation stimulator | Homo sapiens (Human) | PR |
| O95267 | RASGRP1 | RAS guanyl-releasing protein 1 | Homo sapiens (Human) | EV |
| Q8TDF6 | RASGRP4 | RAS guanyl-releasing protein 4 | Homo sapiens (Human) | SS |
| Q7LDG7 | RASGRP2 | RAS guanyl-releasing protein 2 | Homo sapiens (Human) | EV SS |
| Q8IV61 | RASGRP3 | Ras guanyl-releasing protein 3 | Homo sapiens (Human) | SS |
| Q86X27 | RALGPS2 | Ras-specific guanine nucleotide-releasing factor RalGPS2 | Homo sapiens (Human) | PR |
| Q62245 | Sos1 | Son of sevenless homolog 1 | Mus musculus (Mouse) | SS |
| Q8BTM9 | Rasgrp4 | RAS guanyl-releasing protein 4 | Mus musculus (Mouse) | SS |
| Q9Z1S3 | Rasgrp1 | RAS guanyl-releasing protein 1 | Mus musculus (Mouse) | SS |
| Q9QUG9 | Rasgrp2 | RAS guanyl-releasing protein 2 | Mus musculus (Mouse) | SS |
| Q02384 | Sos2 | Son of sevenless homolog 2 | Mus musculus (Mouse) | SS |
| Q9ERD6 | Ralgps2 | Ras-specific guanine nucleotide-releasing factor RalGPS2 | Mus musculus (Mouse) | PR |
| A2AR50 | Ralgps1 | Ras-specific guanine nucleotide-releasing factor RalGPS1 | Mus musculus (Mouse) | PR |
| Q9R1K8 | Rasgrp1 | RAS guanyl-releasing protein 1 | Rattus norvegicus (Rat) | SS |
| P0C643 | Rasgrp2 | RAS guanyl-releasing protein 2 | Rattus norvegicus (Rat) | SS |
| Q8R5I4 | Rasgrp4 | RAS guanyl-releasing protein 4 | Rattus norvegicus (Rat) | SS |
| Q9N5D3 | sos-1 | Son of sevenless homolog | Caenorhabditis elegans | EV |
| A4IJ06 | rasgrp1 | RAS guanyl-releasing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MYKRNGLMAS | VLVTSATPQG | SSSSDSLEGQ | SCDYASKSYD | AVVFDVLKVT | PEEFASQITL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MDIPVFKAIQ | PEELASCGWS | KKEKHSLAPN | VVAFTRRFNQ | VSFWVVREIL | TAQTLKIRAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ILSHFVKIAK | KLLELNNLHS | LMSVVSALQS | APIFRLTKTW | ALLNRKDKTT | FEKLDYLMSK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDNYKRTREY | IRSLKMVPSI | PYLGIYLLDL | IYIDSAYPAS | GSIMENEQRS | NQMNNILRII |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADLQVSCSYD | HLTTLPHVQK | YLKSVRYIEE | LQKFVEDDNY | KLSLRIEPGS | SSPRLVSSKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLAGPSAGSG | SARFSRRPTC | PDTSVAGSLP | TPPVPRHRKS | HSLGNNMMCQ | LSVVESKSAT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FPSEKARHLL | DDSVLESRSP | RRGLALTSSS | AVTNGLSLGS | SESSEFSEEM | SSGLESPTGP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CICSLGNSAA | VPTMEGPLRR | KTLLKEGRKP | ALSSWTRYWV | ILSGSTLLYY | GAKSLRGTDR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KHYKSTPGKK | VSIVGWMVQL | PDDPEHPDIF | QLNNPDKGNV | YKFQTGSRFH | AILWHKHLDD |
| 550 | |||||
| ACKSNRPQVP | ANLMSFE |