Q8N9R8
Gene name |
SCAI (C9orf126) |
Protein name |
Protein SCAI |
Names |
Suppressor of cancer cell invasion protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:286205 |
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 Q8N9R8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N9R8-F1 | Predicted | AlphaFoldDB |
315 variants for Q8N9R8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA375149176 rs1271361062 |
2 | V>A | No |
ClinGen gnomAD |
|
|
rs1308847223 CA375149178 |
2 | V>I | No |
ClinGen gnomAD |
|
|
rs1187580533 CA375149171 |
3 | R>K | No |
ClinGen gnomAD |
|
|
rs1228036967 CA375149148 |
5 | A>T | No |
ClinGen gnomAD |
|
|
CA375149128 rs1270485551 |
6 | R>P | No |
ClinGen TOPMed |
|
|
CA375149129 rs1270485551 |
6 | R>Q | No |
ClinGen TOPMed |
|
|
CA375149109 rs1306341625 |
8 | P>S | No |
ClinGen gnomAD |
|
|
CA199974944 rs888019024 |
9 | Q>R | No |
ClinGen Ensembl |
|
|
CA375149067 rs1367045700 |
12 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1298796203 CA375149040 |
14 | R>P | No |
ClinGen gnomAD |
|
|
CA5238786 rs758268366 |
16 | A>V | No |
ClinGen ExAC |
|
|
CA5238771 rs771180910 |
19 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771180910 CA5238772 |
19 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159211400 CA375148912 |
20 | T>I | No |
ClinGen gnomAD |
|
|
CA5238770 rs747044631 |
22 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA375148887 rs1405358715 |
23 | V>M | No |
ClinGen gnomAD |
|
|
CA375148863 rs1409119056 |
24 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1411918741 CA375148868 |
24 | E>K | No |
ClinGen TOPMed |
|
|
rs1588262141 CA375148844 |
25 | K>N | No |
ClinGen Ensembl |
|
|
CA5238769 rs764533096 |
25 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564139828 CA375148820 |
27 | P>S | No |
ClinGen Ensembl |
|
|
rs778701838 CA5238766 |
30 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1260077346 CA375148746 |
33 | R>G | No |
ClinGen gnomAD |
|
|
rs754728252 CA5238765 |
33 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA375147674 rs589292 |
37 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs589292 COSM3763635 CA5238718 VAR_023236 |
37 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1376018490 CA375147671 |
37 | A>V | No |
ClinGen gnomAD |
|
|
rs1198202957 CA375147670 |
38 | L>V | No |
ClinGen gnomAD |
|
|
rs1438612429 CA375147663 |
39 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA375147653 rs1172954557 |
40 | E>G | No |
ClinGen TOPMed |
|
|
CA375147647 rs1252854388 |
41 | I>V | No |
ClinGen gnomAD |
|
|
CA375147629 rs368234163 |
43 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5238717 rs368234163 |
43 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199965063 rs778430484 |
45 | G>R | No |
ClinGen Ensembl |
|
|
rs1234959450 CA375147600 |
48 | E>G | No |
ClinGen gnomAD |
|
|
rs938947028 CA199965062 |
49 | D>G | No |
ClinGen Ensembl |
|
|
CA5238715 rs370824389 |
50 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780312589 CA5238713 |
58 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA375147520 rs1588182930 |
60 | T>A | No |
ClinGen Ensembl |
|
|
CA375147498 rs1407578223 |
63 | C>R | No |
ClinGen gnomAD |
|
|
rs1299320910 CA375147488 |
64 | Y>C | No |
ClinGen gnomAD |
|
|
COSM77398 rs983093168 CA199965060 |
68 | K>I | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5238708 rs373100131 |
74 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767683920 CA374906962 |
81 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 87 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200106227 CA199764930 |
92 | G>* | No |
ClinGen Ensembl |
|
|
rs1204214481 CA374906872 |
94 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 103 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374906800 rs1377500229 |
103 | K>N | No |
ClinGen gnomAD |
|
|
rs757124100 CA5238672 |
110 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1229068126 CA374906722 |
113 | D>N | No |
ClinGen TOPMed |
|
|
CA5238671 rs763999121 |
115 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5238670 rs763999121 |
115 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022821902 CA199764109 |
115 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1239022893 CA374906701 |
116 | Y>C | No |
ClinGen TOPMed |
|
|
CA5238669 rs72765247 |
118 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767809565 CA5238667 |
119 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs767809565 CA5238668 |
119 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759859828 CA5238666 |
120 | R>S | No |
ClinGen ExAC |
|
| TCGA novel | 122 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751914664 CA374906653 |
123 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA5238665 rs751914664 |
123 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA374906633 rs763293432 |
126 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs763293432 CA5238663 |
126 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1564384631 CA374906617 |
129 | K>E | No |
ClinGen Ensembl |
|
|
rs1564384631 CA374906618 |
129 | K>Q | No |
ClinGen Ensembl |
|
|
CA374906590 rs1349448227 |
132 | Q>H | No |
ClinGen gnomAD |
|
|
rs902467823 CA199764048 |
133 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 134 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374906524 rs1161510823 |
140 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1359615510 CA374906523 COSM203402 |
140 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1182517544 CA374906499 |
144 | T>A | No |
ClinGen gnomAD |
|
|
rs774919233 CA5238641 |
146 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1338039787 CA374906475 |
147 | L>P | No |
ClinGen TOPMed |
|
|
CA5238640 rs771569827 |
149 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5238639 rs759108347 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5238637 rs770613037 |
159 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774466360 CA199762999 |
161 | S>L | No |
ClinGen Ensembl |
|
|
rs777452314 CA5238635 |
163 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1230495778 CA374906359 |
164 | S>F | No |
ClinGen gnomAD |
|
|
rs1348789132 CA374906352 |
165 | Q>H | No |
ClinGen gnomAD |
|
|
rs200434203 CA5238634 |
166 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379621049 CA374906344 |
167 | N>D | No |
ClinGen gnomAD |
|
|
CA374906294 rs1320651590 |
172 | P>T | No |
ClinGen gnomAD |
|
|
CA374906288 rs1436715656 |
173 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA199758613 rs932023288 |
180 | R>* | No |
ClinGen TOPMed |
|
|
CA5238619 rs762527108 |
186 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769471221 CA5238617 |
193 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748013964 CA5238616 |
194 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249255735 CA374906127 |
196 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374906130 rs1423760195 |
196 | D>N | No |
ClinGen gnomAD |
|
|
rs768752095 CA5238614 |
199 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747043209 CA5238613 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758584382 CA5238611 |
202 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5238591 rs201987641 |
207 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374906014 rs1355532452 |
211 | D>H | No |
ClinGen TOPMed |
|
|
rs1442444036 CA374906010 |
211 | D>V | No |
ClinGen TOPMed |
|
|
CA5238590 rs771219131 |
213 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374905991 rs1428382345 |
214 | H>R | No |
ClinGen gnomAD |
|
|
CA199757463 rs969196482 |
215 | R>G | No |
ClinGen Ensembl |
|
|
rs749607765 CA5238589 |
215 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5238588 rs778125492 |
216 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756546449 CA5238587 |
217 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1375964762 CA374905958 |
219 | E>A | No |
ClinGen gnomAD |
|
|
CA374905947 rs1386124693 |
221 | Q>K | No |
ClinGen gnomAD |
|
|
CA5238585 rs375187343 |
225 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1459985 CA199757445 rs992069877 |
231 | V>A | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5238582 rs764755427 |
232 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs764755427 CA374905797 |
232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5238581 rs761577070 |
235 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373639867 COSM1459984 CA5238564 |
237 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1292085794 CA374905684 |
238 | D>H | No |
ClinGen gnomAD |
|
|
CA374905661 rs1339156609 |
240 | V>I | No |
ClinGen gnomAD |
|
|
CA199757282 rs998378790 |
242 | V>L | No |
ClinGen TOPMed |
|
|
rs1176788129 CA374905623 |
243 | L>I | No |
ClinGen TOPMed |
|
|
CA5238561 rs201358665 |
244 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1157276714 CA374905587 |
245 | D>G | No |
ClinGen gnomAD |
|
|
rs1407016202 CA374905556 |
247 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374905522 rs1412270769 |
250 | V>I | No |
ClinGen TOPMed |
|
|
rs1163553969 CA374905510 |
251 | I>L | No |
ClinGen gnomAD |
|
|
CA374905503 rs1473742024 |
251 | I>T | No |
ClinGen gnomAD |
|
|
rs1333350235 COSM1105134 CA374905477 |
253 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1276044967 CA374905404 |
259 | T>A | No |
ClinGen TOPMed |
|
|
rs1464990663 CA374905375 |
261 | A>S | No |
ClinGen gnomAD |
|
|
rs1464990663 CA374905378 |
261 | A>T | No |
ClinGen gnomAD |
|
|
rs759532689 CA5238557 |
262 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374905288 rs1206464363 |
267 | G>D | No |
ClinGen gnomAD |
|
|
CA374905295 rs1339639898 |
267 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 269 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774230577 CA5238556 |
269 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5238555 rs770995108 |
274 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA374905214 rs200657393 |
277 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369558159 CA5238552 COSM1105132 |
278 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374905207 rs1588155483 |
279 | L>V | No |
ClinGen Ensembl |
|
|
CA5238550 rs777075487 |
280 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327541072 CA374905183 |
283 | N>H | No |
ClinGen gnomAD |
|
|
rs1350623294 CA374905172 |
284 | C>F | No |
ClinGen gnomAD |
|
|
rs747552796 CA5238548 |
286 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1490631593 CA374905156 |
286 | N>S | No |
ClinGen TOPMed |
|
|
CA5238518 rs755657455 |
288 | V>G | No |
ClinGen ExAC |
|
|
rs1192589236 CA374904010 |
288 | V>I | No |
ClinGen gnomAD |
|
|
rs1032716855 CA199746194 |
291 | S>G | No |
ClinGen gnomAD |
|
|
CA5238517 rs747834302 |
293 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250195431 CA374903813 |
303 | A>V | No |
ClinGen gnomAD |
|
|
COSM1132595 rs766263609 CA5238513 |
307 | E>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5238511 rs750443849 |
309 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5238512 rs758352624 |
309 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199746172 rs201670400 |
310 | N>S | No |
ClinGen 1000Genomes |
|
|
rs765303079 CA5238510 |
312 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5238509 rs200286023 |
313 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1162012527 CA374903737 |
315 | M>K | No |
ClinGen Ensembl |
|
|
rs764269336 CA5238507 |
316 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5238508 rs776895636 |
316 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761064940 CA5238506 |
317 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1177518662 CA374903715 |
318 | P>Q | No |
ClinGen gnomAD |
|
|
CA374903717 rs1359267491 |
318 | P>T | No |
ClinGen gnomAD |
|
|
CA5238504 rs772652764 |
320 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374903694 rs1195879424 |
321 | Q>R | No |
ClinGen gnomAD |
|
|
CA374903652 rs1317122603 |
325 | D>E | No |
ClinGen gnomAD |
|
|
CA199745980 rs534187519 |
325 | D>G | No |
ClinGen 1000Genomes |
|
|
CA374903650 rs1243658739 |
326 | K>E | No |
ClinGen gnomAD |
|
|
rs1297646190 CA374903638 |
327 | P>R | No |
ClinGen gnomAD |
|
|
rs1381439066 CA374903641 |
327 | P>S | No |
ClinGen gnomAD |
|
|
rs371292629 CA199745976 |
328 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199745971 rs958910406 |
328 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs371292629 CA5238481 |
328 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287911753 CA374903626 |
330 | R>* | No |
ClinGen gnomAD |
|
|
CA5238480 rs768297116 |
331 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746668189 CA5238479 |
332 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs771837312 CA5238477 |
333 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5238478 rs376710995 |
333 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187982474 CA374903587 |
336 | Y>H | No |
ClinGen TOPMed |
|
|
CA374903536 rs1343876072 |
343 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374903501 rs1210624213 |
348 | T>I | No |
ClinGen gnomAD |
|
|
CA5238472 rs777724017 |
351 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5238470 rs752954982 |
352 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs922025260 CA199745116 |
358 | P>A | No |
ClinGen Ensembl |
|
|
COSM1105131 CA374903186 rs1203143896 |
360 | N>S | liver endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs774158530 CA199745105 |
365 | I>F | No |
ClinGen Ensembl |
|
|
rs867788647 CA199745058 |
370 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5238447 rs766656956 |
370 | T>N | No |
ClinGen ExAC |
|
|
rs867788647 CA374903042 |
370 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA199745015 rs912133819 |
373 | F>S | No |
ClinGen Ensembl |
|
|
rs750877373 CA5238445 |
374 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA374902965 rs1351448507 |
375 | T>A | No |
ClinGen gnomAD |
|
|
rs1369864954 CA374902947 |
376 | G>R | No |
ClinGen TOPMed |
|
|
CA199744999 rs923431724 |
376 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM3432856 rs760144612 CA5238443 |
377 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs775009298 CA5238442 |
377 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5238441 rs767102086 |
379 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374902902 rs1427535546 |
380 | S>G | No |
ClinGen gnomAD |
|
|
CA374901490 rs1203819707 |
384 | Y>F | No |
ClinGen gnomAD |
|
|
CA5238418 rs759147578 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199743821 rs868625752 |
391 | T>N | No |
ClinGen Ensembl |
|
|
CA374901344 rs1248779333 |
392 | N>D | No |
ClinGen gnomAD |
|
|
rs766095075 CA5238416 |
395 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs773164593 CA5238414 |
396 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA374901177 rs1316489013 |
397 | I>V | No |
ClinGen gnomAD |
|
|
CA199743803 rs375628930 |
402 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375628930 CA5238413 |
402 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780636989 CA5238410 |
404 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776776226 CA5238411 |
404 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs747158707 CA374900856 |
406 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5238409 rs747158707 |
406 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA374900840 rs1182383146 |
407 | N>S | No |
ClinGen gnomAD |
|
|
CA374900821 rs1342875555 |
408 | Q>P | No |
ClinGen TOPMed |
|
|
CA374900777 rs1475450869 COSM1105129 |
410 | H>P | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780104670 CA5238408 |
411 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 411 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778213347 CA5238385 |
419 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374899579 rs1343382491 |
422 | Y>C | No |
ClinGen gnomAD |
|
|
rs1263235175 CA374899589 |
422 | Y>N | No |
ClinGen TOPMed |
|
|
CA374899561 rs1463436306 |
423 | P>T | No |
ClinGen TOPMed |
|
|
rs1588139304 CA374899535 |
425 | T>P | No |
ClinGen Ensembl |
|
|
CA374899529 rs1302525944 |
426 | R>G | No |
ClinGen gnomAD |
|
|
CA199740234 rs1039187435 |
431 | I>V | No |
ClinGen Ensembl |
|
|
rs1408848612 CA374899407 |
432 | I>V | No |
ClinGen gnomAD |
|
|
COSM263515 rs757912013 CA5238381 |
435 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5238378 rs757083632 |
439 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231268835 CA374899243 |
440 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374899241 rs1231268835 |
440 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1203988885 CA374899234 |
440 | A>V | No |
ClinGen gnomAD |
|
|
CA374893695 rs1465303498 |
445 | T>I | No |
ClinGen TOPMed |
|
|
CA374893694 rs1408545551 |
446 | N>D | No |
ClinGen TOPMed |
|
|
rs1318469422 CA374893575 |
451 | P>L | No |
ClinGen gnomAD |
|
|
CA199729039 rs1034656402 |
453 | V>A | No |
ClinGen TOPMed |
|
|
CA5238357 rs753626978 |
459 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs763948902 CA374893453 |
459 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763948902 CA5238356 |
459 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755923769 CA5238355 |
464 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199729025 rs755923769 |
464 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374892474 rs1233170829 |
467 | D>E | No |
ClinGen gnomAD |
|
|
CA374892377 rs1336927254 |
469 | S>C | No |
ClinGen gnomAD |
|
|
CA5238326 rs766445170 |
471 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs369515394 CA5238325 |
471 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199726900 rs927131529 |
474 | L>I | No |
ClinGen TOPMed |
|
|
rs765417164 CA5238323 |
477 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765417164 CA199726889 |
477 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1330737 CA5238322 rs762197125 |
481 | N>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1173915798 CA374891897 |
485 | A>V | No |
ClinGen gnomAD |
|
|
rs1416812745 CA374891609 |
494 | S>T | No |
ClinGen gnomAD |
|
|
CA374891577 rs1216294741 |
495 | M>I | No |
ClinGen gnomAD |
|
|
rs761266346 CA5238319 |
496 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5238318 rs371655620 |
496 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 498 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199726836 rs896091784 |
503 | C>S | No |
ClinGen Ensembl |
|
|
rs747920037 CA5238313 |
505 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1281831362 CA374891217 |
506 | Y>C | No |
ClinGen gnomAD |
|
|
CA5238312 rs780971540 |
507 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1314442 CA199726808 rs1037274982 |
508 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1277388896 CA374891134 |
509 | K>N | No |
ClinGen gnomAD |
|
|
rs1454797965 CA374891100 |
510 | I>M | No |
ClinGen gnomAD |
|
|
CA5238311 rs754836411 |
511 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5238310 rs751483718 |
511 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs940376510 CA199726801 |
512 | R>C | No |
ClinGen gnomAD |
|
|
rs200076178 CA5238309 |
512 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199726764 rs778179352 |
519 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5238307 rs778179352 |
519 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407676780 CA374890909 |
520 | H>N | No |
ClinGen TOPMed |
|
|
rs921772007 CA199726763 |
522 | R>C | No |
ClinGen gnomAD |
|
|
CA5238306 rs202109345 |
522 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs974587395 CA199726759 |
524 | I>T | No |
ClinGen gnomAD |
|
|
rs1192029108 CA374902221 |
527 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA199776425 rs1016280095 |
531 | F>L | No |
ClinGen Ensembl |
|
|
CA374902033 rs1225344566 |
534 | D>G | No |
ClinGen gnomAD |
|
|
rs530897438 CA5238287 |
538 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5238286 rs754093354 |
539 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA374901886 rs1588124319 |
540 | L>F | No |
ClinGen Ensembl |
|
|
rs756508043 CA5238284 |
545 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886114774 CA199776388 |
548 | S>* | No |
ClinGen Ensembl |
|
|
CA5238282 rs768015078 |
549 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374901584 rs1255629702 |
551 | M>I | No |
ClinGen TOPMed |
|
|
rs774993223 CA5238280 |
552 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1322242274 CA374901494 |
555 | K>E | No |
ClinGen gnomAD |
|
|
rs1410031763 CA374901447 |
557 | F>I | No |
ClinGen gnomAD |
|
|
COSM40986 rs761432942 CA5238278 |
558 | R>Q | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764643339 CA5238279 |
558 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755431697 CA5238260 |
564 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1315136079 CA374896742 |
565 | E>D | No |
ClinGen TOPMed |
|
|
CA374896566 rs1305443035 |
574 | E>* | No |
ClinGen Ensembl |
|
|
CA5238255 rs200979758 |
580 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265219373 CA374896426 |
580 | H>R | No |
ClinGen gnomAD |
|
|
CA374896404 rs1374853222 |
581 | L>R | No |
ClinGen Ensembl |
|
|
CA374896391 rs1212055948 |
582 | Q>R | No |
ClinGen gnomAD |
|
|
CA5238254 rs760324613 |
583 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5238253 rs775189186 |
584 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 586 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 590 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374896117 rs1248749612 |
593 | D>G | No |
ClinGen TOPMed |
|
|
rs1374879277 CA374896092 |
594 | V>I | No |
ClinGen gnomAD |
|
|
rs745717368 CA5238251 |
595 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5238250 rs541516222 |
595 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5238248 rs370360450 |
597 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 598 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199763185 rs971549758 |
599 | F>V | No |
ClinGen gnomAD |
|
|
rs1244969741 CA374895949 |
601 | N>D | No |
ClinGen TOPMed |
|
|
CA5238245 rs770069119 |
603 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778009281 CA5238246 |
603 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374895882 rs1178171123 |
604 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 604 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199763174 rs754355465 |
605 | D>A | No |
ClinGen Ensembl |
|
|
rs1445311517 CA374895824 |
605 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA199763171 rs958990744 |
606 | Y>C | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q8N9R8
No regional properties for Q8N9R8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8N9R8 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of membrane | The component of a 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. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of Rho protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8C8N2 | Scai | Protein SCAI | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVRGARQPQQ | PRSRLAPRLT | GTVEKPPRKR | RSRTEFALKE | IMSSGGAEDD | IPQGERKTVT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DFCYLLDKSK | QLFNGLRDLP | QYGQKQWQSY | FGRTFDVYTK | LWKFQQQHRQ | VLDNRYGLKR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WQIGEIASKI | GQLYYHYYLR | TSETSYLNEA | FSFYSAIRQR | SYYSQVNKED | RPELVVKKLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YYARFIVVCL | LLNKMDVVKD | LVKELSDEIE | DYTHRFNTED | QVEWNLVLQE | VAAFIEADPV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MVLNDDNTIV | ITSNRLAETG | APLLEQGMIV | GQLSLADALI | IGNCNNQVKF | SELTVDMFRM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LQALEREPMN | LASQMNKPGM | QESADKPTRR | ENPHKYLLYK | PTFSQLYTFL | AASFKELPAN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVLLIYLSAT | GVFPTGRSDS | EGPYDFGGVL | TNSNRDIING | DAIHKRNQSH | KEMHCLHPGD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LYPFTRKPLF | IIVDSSNSVA | YKNFTNLFGQ | PLVCLLSPTA | YPKALQDQSQ | RGSLFTLFLN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NPLMAFLFVS | GLSSMRRGLW | EKCQEYLRKI | NRDIAQLLTH | SRSIDQAFLQ | FFGDEFLRLL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LTRFIFCSAT | MRMHKIFRET | RNYPESYPQL | PRDETVENPH | LQKHILELAS | ILDVRNVFFE |
| NTIDDY |