Q9C0K7
PR
Gene name |
STRADB (ALS2CR2, ILPIP, PRO1038) |
Protein name |
STE20-related kinase adapter protein beta |
Names |
STRAD beta, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein, CALS-21, ILP-interacting protein, Pseudokinase ALS2CR2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55437 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9C0K7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9C0K7-F1 | Predicted | AlphaFoldDB |
256 variants for Q9C0K7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA63912844 rs907662613 |
2 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63914729 rs1052530340 |
11 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1299005687 CA350279848 |
13 | Q>* | No |
ClinGen TOPMed |
|
|
CA350279855 rs1172298411 |
13 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1423919995 CA350279865 |
14 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs768630852 CA2055148 |
15 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs878923052 CA63914746 |
16 | S>P | No |
ClinGen Ensembl |
|
|
CA2055149 rs374693632 |
18 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559462468 CA350279961 |
22 | Q>* | No |
ClinGen Ensembl |
|
|
CA63914763 rs902845143 |
28 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770367535 CA350280080 |
31 | L>F | No |
ClinGen gnomAD |
|
|
rs756412421 CA2055168 |
32 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359995323 CA350281963 |
34 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350281988 rs1441891319 |
35 | P>R | No |
ClinGen gnomAD |
|
|
CA63920106 rs922173801 |
35 | P>S | No |
ClinGen TOPMed |
|
|
rs111941783 CA2055169 |
36 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs111941783 CA350281992 |
36 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996032242 CA63920120 |
37 | L>F | No |
ClinGen TOPMed |
|
|
CA350282020 rs1241428684 |
38 | S>P | No |
ClinGen gnomAD |
|
|
rs565091574 CA2055170 |
41 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2055171 rs192324264 |
41 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2055172 rs778258303 |
42 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs866157374 CA63920136 |
42 | P>L | No |
ClinGen Ensembl |
|
|
rs368316591 CA2055174 |
44 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197766579 CA350282083 |
44 | T>I | No |
ClinGen gnomAD |
|
|
rs940775082 CA63920151 |
45 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350282100 rs1207032976 |
46 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350282108 rs1458930416 |
47 | S>N | No |
ClinGen gnomAD |
|
|
CA350282128 rs1179112373 |
49 | V>I | No |
ClinGen gnomAD |
|
|
CA350282180 rs1236552779 |
54 | N>D | No |
ClinGen TOPMed |
|
|
CA2055176 rs150881202 |
54 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150881202 CA2055177 |
54 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374042513 CA2055179 |
55 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2055180 rs767492795 |
57 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1574288970 CA350282222 |
58 | Y>C | No |
ClinGen Ensembl |
|
|
CA350282239 rs1574288976 |
60 | L>V | No |
ClinGen Ensembl |
|
|
CA350282290 rs1281433863 |
64 | I>M | No |
ClinGen TOPMed |
|
|
rs774147860 CA2055203 |
65 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1398868620 CA350282553 |
66 | R>I | No |
ClinGen gnomAD |
|
|
rs1398868620 CA350282548 |
66 | R>K | No |
ClinGen gnomAD |
|
|
rs934860137 CA63921779 |
74 | V>I | No |
ClinGen Ensembl |
|
|
rs771728565 CA2055206 |
78 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2055205 rs747601312 |
78 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA350282746 rs1354157680 |
80 | T>A | No |
ClinGen gnomAD |
|
|
CA2055207 rs773242350 |
82 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1290540500 CA350282780 |
82 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA63921802 rs893272636 |
83 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA350282848 rs1226856361 |
87 | T>I | No |
ClinGen gnomAD |
|
|
rs1191652425 CA350282853 |
88 | I>L | No |
ClinGen gnomAD |
|
|
rs1191652425 CA350282854 |
88 | I>V | No |
ClinGen gnomAD |
|
|
rs776286549 CA2055210 |
89 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759381089 CA2055211 |
91 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2055212 rs765320163 |
92 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA350282981 rs1473985845 |
96 | C>R | No |
ClinGen gnomAD |
|
|
CA350283006 rs752940296 |
97 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2055214 rs752940296 |
97 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA350283013 rs1433106979 |
98 | E>K | No |
ClinGen TOPMed |
|
|
rs191184636 CA2055215 |
100 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2055217 rs374727442 COSM1227925 |
100 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2055216 rs374727442 |
100 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369992593 CA2055218 |
101 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311573308 CA350283061 |
102 | K>R | No |
ClinGen gnomAD |
|
|
rs781754646 CA2055219 |
103 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751583278 CA2055241 |
107 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761954001 CA2055242 |
108 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199593085 CA63922914 |
111 | S>P | No |
ClinGen 1000Genomes |
|
| TCGA novel | 113 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767850258 CA2055243 |
115 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs575673132 CA63922925 |
115 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs756392318 CA2055245 |
116 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1180986259 CA350283337 |
117 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1379133187 CA350283351 |
118 | N>S | No |
ClinGen gnomAD |
|
|
CA350283360 rs1364452567 |
119 | I>V | No |
ClinGen TOPMed |
|
|
rs780534415 CA2055246 |
122 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350283430 rs929889799 |
125 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA63922975 rs929889799 |
125 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1292985015 CA350283452 |
127 | T>A | No |
ClinGen TOPMed |
|
|
CA2055249 rs777572102 |
127 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777572102 CA63922979 |
127 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1462733458 CA350283489 |
131 | W>G | No |
ClinGen TOPMed |
|
|
rs1399205592 CA350283543 |
135 | I>L | No |
ClinGen gnomAD |
|
|
CA350283581 rs1244166596 |
138 | F>L | No |
ClinGen Ensembl |
|
|
rs770497722 CA2055251 |
141 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755406826 CA2055268 |
142 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA350284690 rs1291716689 |
144 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763789726 CA2055269 |
145 | S>N | No |
ClinGen ExAC |
|
|
CA350284755 rs1369743760 |
147 | L>R | No |
ClinGen gnomAD |
|
|
rs751255210 CA2055270 |
149 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2055271 rs756898630 |
149 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350284806 rs1220840037 |
150 | T>I | No |
ClinGen gnomAD |
|
|
rs745424750 CA2055273 |
151 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_041335 | 155 | G>E | a metastatic melanoma sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 158 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471768334 CA350285026 |
159 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756037325 CA2055274 |
163 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2055275 rs779975650 |
164 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA350285135 rs1339457590 |
166 | F>L | No |
ClinGen gnomAD |
|
|
CA350285143 rs1222634683 |
166 | F>S | No |
ClinGen gnomAD |
|
|
CA350285168 rs1182813808 |
167 | G>E | No |
ClinGen TOPMed |
|
|
rs979048813 CA63923476 |
169 | V>E | No |
ClinGen Ensembl |
|
|
CA2055278 rs377363227 |
169 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350285287 rs1559468397 |
173 | N>H | No |
ClinGen Ensembl |
|
|
CA350285316 rs1419878077 |
173 | N>K | No |
ClinGen gnomAD |
|
|
rs1423038985 CA350285329 |
174 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350285381 rs1378525717 |
177 | Q>R | No |
ClinGen Ensembl |
|
|
rs1330388568 CA350285407 |
178 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 180 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61742622 CA63923501 |
180 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350285442 rs1358860966 |
181 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | H>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865949332 CA63923506 |
182 | H>N | No |
ClinGen gnomAD |
|
|
rs865949332 CA350285457 |
182 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350285625 rs1421616913 |
184 | S>I | No |
ClinGen gnomAD |
|
|
rs1421616913 CA350285627 |
184 | S>N | No |
ClinGen gnomAD |
|
|
rs1454507350 CA350285667 |
186 | K>N | No |
ClinGen gnomAD |
|
|
CA2055292 rs779920644 |
187 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779920644 CA2055293 |
187 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA350285758 rs1446247522 |
192 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1409247537 CA350285794 |
195 | D>H | No |
ClinGen TOPMed |
|
|
rs747952366 CA2055296 |
198 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350285827 rs1232750070 |
198 | V>M | No |
ClinGen TOPMed |
|
|
CA350285909 rs1201444460 |
204 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 206 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350285951 rs1355154669 |
207 | H>Y | No |
ClinGen gnomAD |
|
|
CA350285982 rs1284494741 |
208 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs938794874 CA63924407 |
209 | L>S | No |
ClinGen TOPMed |
|
|
CA2055303 rs765720049 |
210 | V>D | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 211 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775915813 CA2055304 |
214 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562531133 CA2055306 |
215 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 218 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2055307 rs370450590 |
221 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334771207 CA350286218 |
224 | Q>R | No |
ClinGen TOPMed |
|
|
CA63924419 rs921965001 |
225 | F>L | No |
ClinGen Ensembl |
|
|
CA2055309 rs765847340 |
225 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1291984652 CA350286245 |
226 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs202088492 CA2055310 |
231 | P>L | Variant assessed as Somatic; 0.0005546 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202088492 CA350286336 |
231 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2055312 rs778783913 |
235 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA350286489 rs1178509855 |
239 | R>K | No |
ClinGen gnomAD |
|
|
CA350286513 rs1407220112 |
240 | Q>E | No |
ClinGen gnomAD |
|
|
CA350286524 rs1380260928 |
240 | Q>H | No |
ClinGen TOPMed |
|
|
rs760301978 CA2055326 |
243 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA350286834 rs1465400764 |
247 | V>M | No |
ClinGen gnomAD |
|
|
rs1300997431 CA350286875 |
248 | K>Q | No |
ClinGen TOPMed |
|
|
rs753343423 CA2055328 |
249 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350287013 rs1323498677 |
252 | Y>* | No |
ClinGen gnomAD |
|
|
CA539386357 rs1410958570 |
252 | Y>* | No |
ClinGen gnomAD |
|
|
rs925475488 CA63924599 |
253 | S>I | No |
ClinGen Ensembl |
|
|
CA2055329 rs758974526 |
255 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1284773306 CA350287133 |
258 | A>V | No |
ClinGen gnomAD |
|
|
rs1196246610 TCGA novel CA350287441 |
268 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs1289082106 CA350287476 |
270 | D>V | No |
ClinGen gnomAD |
|
|
CA350287509 rs1269839120 |
271 | M>I | No |
ClinGen gnomAD |
|
|
CA2055334 rs751456676 |
271 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2055333 rs367866662 |
271 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350287539 rs1477658004 |
273 | R>G | No |
ClinGen gnomAD |
|
|
rs757545912 CA2055335 |
273 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2055336 rs781566771 |
275 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2055348 rs775113809 |
276 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546115190 CA63924719 |
277 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA63924721 rs139316950 |
279 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2055349 rs139316950 |
279 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350287987 rs1185420753 |
283 | G>D | No |
ClinGen TOPMed |
|
|
rs368698287 CA2055350 |
283 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs995281706 CA63924742 |
284 | P>L | No |
ClinGen Ensembl |
|
|
CA63924748 rs995628093 |
285 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2055352 rs757128613 |
287 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1206123773 CA350288162 |
289 | L>F | No |
ClinGen TOPMed |
|
|
rs1447046787 CA350288145 |
289 | L>M | No |
ClinGen gnomAD |
|
|
CA350288280 rs1559469683 |
292 | S>I | No |
ClinGen Ensembl |
|
|
rs1164774810 CA350288405 |
295 | P>T | No |
ClinGen gnomAD |
|
|
rs750646416 CA2055355 |
296 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779979103 CA2055358 |
298 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA63924788 rs1013267626 |
300 | R>K | No |
ClinGen Ensembl |
|
|
CA350288711 rs1382548781 |
301 | M>R | No |
ClinGen gnomAD |
|
|
CA2055359 rs749446717 |
302 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1338493440 CA350288782 |
303 | N>S | No |
ClinGen gnomAD |
|
|
rs755473614 CA2055360 |
304 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs772449883 CA2055363 |
305 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2055364 rs773664885 |
306 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350288895 rs773664885 |
306 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2055365 rs745485424 |
307 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350288930 rs745485424 |
307 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA63924816 rs966393427 |
309 | D>Y | No |
ClinGen Ensembl |
|
|
rs958219127 CA63924825 |
314 | E>A | No |
ClinGen Ensembl |
|
|
CA63924828 rs980340074 |
315 | S>I | No |
ClinGen TOPMed |
|
|
rs1035667632 CA63924842 |
317 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1035667632 CA350289288 |
317 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762525963 CA2055368 |
318 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2055370 rs774448521 |
319 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | S>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296107131 CA350289618 |
329 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs377072996 CA2055373 |
329 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA63924899 rs199976216 |
331 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2055374 rs756280152 |
331 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2055375 rs766692153 |
333 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350289749 rs1403571087 |
333 | P>T | No |
ClinGen gnomAD |
|
|
rs755064384 CA2055377 |
336 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1559469777 CA350289963 |
339 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 340 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029142455 CA63924957 |
344 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1194227040 CA350290155 |
345 | L>F | No |
ClinGen TOPMed |
|
|
rs758953030 CA2055380 |
345 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1254503236 CA350290202 |
348 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs147959822 CA2055381 |
350 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294528598 CA350290314 |
351 | Q>P | No |
ClinGen TOPMed |
|
|
CA350290496 rs1257953667 |
355 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350290509 rs1257953667 |
355 | E>G | No |
ClinGen gnomAD |
|
|
CA2055383 rs150939369 |
357 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748915345 CA2055409 |
359 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350290868 rs1296293743 |
360 | A>E | No |
ClinGen TOPMed |
|
|
CA350290907 rs1574297653 |
362 | S>N | No |
ClinGen Ensembl |
|
|
CA63925569 rs866857923 |
364 | L>S | No |
ClinGen Ensembl |
|
|
CA2055411 rs373664603 |
365 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391554565 CA350290985 |
367 | V>D | No |
ClinGen TOPMed |
|
|
CA350291070 rs1321710050 |
370 | K>R | No |
ClinGen gnomAD |
|
|
rs754676037 CA2055429 |
372 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1027527199 CA63925842 |
376 | S>G | No |
ClinGen TOPMed |
|
|
CA350292381 rs1441036417 |
378 | D>E | No |
ClinGen TOPMed |
|
|
rs757576246 CA350292396 |
380 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA63925851 rs757576246 |
380 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1160129433 CA350292409 |
381 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA350292440 rs1358901498 |
384 | L>S | No |
ClinGen gnomAD |
|
|
CA350292439 rs1358901498 |
384 | L>W | No |
ClinGen gnomAD |
|
|
CA2055430 rs778715637 |
385 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA63925865 rs35636836 VAR_041336 |
386 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA350292469 rs1559470398 |
387 | A>P | No |
ClinGen Ensembl |
|
|
rs747605415 CA2055431 |
388 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1352582251 CA350292510 |
389 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs911510457 COSM3702104 CA63925882 |
393 | I>M | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA350292564 rs1278510708 |
393 | I>T | No |
ClinGen gnomAD |
|
|
rs771636247 CA2055432 |
393 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350292575 rs1225052686 |
394 | S>P | No |
ClinGen gnomAD |
|
|
CA2055433 rs777532118 |
397 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2055435 rs150125277 |
398 | V>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369053856 CA2055434 |
398 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA63925896 rs188484503 |
401 | W>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA63925909 rs188484503 |
401 | W>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA350292690 rs1306303573 |
403 | E>A | No |
ClinGen TOPMed |
|
|
rs745665190 CA2055437 |
403 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776405888 CA2055436 |
403 | E>Q | No |
ClinGen ExAC |
|
|
rs139900078 CA2055438 |
407 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs549746122 CA2055439 |
408 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2055440 rs762899135 |
410 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs939073682 CA63925924 |
411 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA63925936 rs372938193 |
414 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA350292972 rs1407468647 |
415 | Y>C | No |
ClinGen gnomAD |
|
|
rs762372607 CA2055443 |
416 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350293001 rs1342930687 |
417 | E>* | No |
ClinGen TOPMed |
1 associated diseases with Q9C0K7
Without disease ID
1 regional properties for Q9C0K7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 69 - 379 | IPR000719 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| aggresome | An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| serine/threonine protein kinase complex | A protein complex which is capable of protein serine/threonine kinase activity. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| protein serine/threonine kinase activator activity | Binds to and increases the activity of a protein serine/threonine kinase. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
| negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand. |
| protein export from nucleus | The directed movement of a protein from the nucleus into the cytoplasm. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95747 | OXSR1 | Serine/threonine-protein kinase OSR1 | Homo sapiens (Human) | PR |
| Q9UEW8 | STK39 | STE20/SPS1-related proline-alanine-rich protein kinase | Homo sapiens (Human) | PR |
| Q7RTN6 | STRADA | STE20-related kinase adapter protein alpha | Homo sapiens (Human) | PR |
| Q6P9R2 | Oxsr1 | Serine/threonine-protein kinase OSR1 | Mus musculus (Mouse) | PR |
| Q9Z1W9 | Stk39 | STE20/SPS1-related proline-alanine-rich protein kinase | Mus musculus (Mouse) | PR |
| Q3UUJ4 | Strada | STE20-related kinase adapter protein alpha | Mus musculus (Mouse) | PR |
| Q8K4T3 | Stradb | STE20-related kinase adapter protein beta | Mus musculus (Mouse) | PR |
| Q863I2 | OXSR1 | Serine/threonine-protein kinase OSR1 | Sus scrofa (Pig) | PR |
| Q7TNZ6 | Strada | STE20-related kinase adapter protein alpha | Rattus norvegicus (Rat) | PR |
| O88506 | Stk39 | STE20/SPS1-related proline-alanine-rich protein kinase | Rattus norvegicus (Rat) | PR |
| O23304 | BLUS1 | Serine/threonine-protein kinase BLUS1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLLDCFCTS | RTQVESLRPE | KQSETSIHQY | LVDEPTLSWS | RPSTRASEVL | CSTNVSHYEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QVEIGRGFDN | LTSVHLARHT | PTGTLVTIKI | TNLENCNEER | LKALQKAVIL | SHFFRHPNIT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TYWTVFTVGS | WLWVISPFMA | YGSASQLLRT | YFPEGMSETL | IRNILFGAVR | GLNYLHQNGC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IHRSIKASHI | LISGDGLVTL | SGLSHLHSLV | KHGQRHRAVY | DFPQFSTSVQ | PWLSPELLRQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DLHGYNVKSD | IYSVGITACE | LASGQVPFQD | MHRTQMLLQK | LKGPPYSPLD | ISIFPQSESR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MKNSQSGVDS | GIGESVLVSS | GTHTVNSDRL | HTPSSKTFSP | AFFSLVQLCL | QQDPEKRPSA |
| 370 | 380 | 390 | 400 | 410 | |
| SSLLSHVFFK | QMKEESQDSI | LSLLPPAYNK | PSISLPPVLP | WTEPECDFPD | EKDSYWEF |