Q8N3U4
PR
Gene name |
STAG2 (SA2) |
Protein name |
Cohesin subunit SA-2 |
Names |
SCC3 homolog 2, Stromal antigen 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10735 |
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
427 variants for Q8N3U4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001332728 rs2056968861 |
2 | I>T | Mullegama-Klein-Martinez syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761364 RCV001072112 CA414272382 rs1569507848 |
69 | R>* | Mullegama-Klein-Martinez syndrome Variant assessed as Somatic; impact. Holoprosencephaly 13, X-linked [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_083967 | 69 | R>del | HPE13 and MKMS; patient cells show decreased protein abundance; increased sister chromatid cohesion [UniProt] | Yes | UniProt |
|
rs1602977573 RCV000995651 |
118 | I>missing | Mullegama-Klein-Martinez syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680243 CA414274049 rs1569510978 |
140 | Q>* | STAG2-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_082294 | 140 | Q>del | MKMS [UniProt] | Yes | UniProt |
|
rs2057753419 RCV001072114 |
146 | R>* | Holoprosencephaly 13, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083968 | 146 | R>del | HPE13 [UniProt] | Yes | UniProt |
|
RCV000680247 VAR_082295 rs1569511477 CA414274334 RCV000761369 |
159 | Y>C | STAG2-related disorder Mullegama-Klein-Martinez syndrome MKMS [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001267138 rs2057841126 |
211 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083969 | 259 | R>del | HPE13 [UniProt] | Yes | UniProt |
|
RCV001267133 rs2057961508 |
295 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761365 rs1569512722 CA414276931 VAR_082296 |
327 | S>N | Mullegama-Klein-Martinez syndrome MKMS; loss of interaction with RAD21; loss of interaction with cohesin complex [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA414279783 rs1569515507 RCV000680244 RCV000761367 |
535 | C>* | STAG2-related disorder Mullegama-Klein-Martinez syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_082297 | 535 | C>del | MKMS [UniProt] | Yes | UniProt |
|
RCV000680246 rs1569515729 |
553 | K>missing | STAG2-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680245 rs1569515797 CA414272257 RCV000761368 VAR_082298 |
604 | R>Q | STAG2-related disorder Mullegama-Klein-Martinez syndrome MKMS; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA414277968 RCV000624439 rs1556553319 |
862 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA414280073 rs1603150613 RCV001858819 RCV000995652 |
954 | R>C | Mullegama-Klein-Martinez syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1374370833 RCV000761366 CA414280630 VAR_082300 |
1009 | K>N | Mullegama-Klein-Martinez syndrome MKMS [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD UniProt |
|
rs1317614761 RCV001072113 RCV002466621 |
1012 | R>* | Holoprosencephaly 13, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083970 | 1012 | R>del | HPE13 [UniProt] | Yes | UniProt |
|
RCV001290271 CA414280806 rs1569520709 RCV001664804 |
1033 | R>* | Mullegama-Klein-Martinez syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002531914 CA414281361 rs1556571924 RCV000622867 |
1113 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 4 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 6 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899950130 CA335276268 |
12 | N>S | No |
ClinGen TOPMed |
|
|
rs776231686 CA10508522 |
15 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA335276499 rs188035163 |
20 | H>D | No |
ClinGen 1000Genomes |
|
| TCGA novel | 21 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275593323 CA414271599 |
21 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414271631 rs1602909076 |
26 | D>N | No |
ClinGen Ensembl |
|
|
CA10508532 rs756567157 |
29 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs756567157 CA10508533 |
29 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1179730186 CA414271665 |
30 | I>T | No |
ClinGen gnomAD |
|
|
rs1251136516 CA414271668 |
31 | E>K | No |
ClinGen gnomAD |
|
|
rs950567395 CA335276502 |
39 | K>R | No |
ClinGen Ensembl |
|
|
rs777752836 CA10508562 |
43 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1339518693 CA414272134 |
44 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348108191 CA414272170 |
47 | K>Q | No |
ClinGen gnomAD |
|
|
rs745799850 CA10508563 |
48 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414272197 rs1053797512 |
49 | G>R | No |
ClinGen TOPMed |
|
|
CA335276891 rs1053797512 |
49 | G>S | No |
ClinGen TOPMed |
|
|
CA414272220 rs1436980550 |
51 | A>E | No |
ClinGen gnomAD |
|
|
rs1328419748 CA414272243 |
53 | K>T | No |
ClinGen TOPMed |
|
|
rs1205210487 CA414272261 |
54 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs537432586 CA335276892 |
55 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761786663 CA335276893 |
56 | G>S | No |
ClinGen 1000Genomes |
|
|
rs878912187 CA335276894 |
61 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 72 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10508568 rs774072568 |
80 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA414272557 rs1388779078 |
82 | M>V | No |
ClinGen gnomAD |
|
|
rs777893472 CA10508581 |
97 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10508585 rs749030891 |
107 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 108 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 109 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335277413 rs140238058 |
112 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140238058 CA10508587 |
112 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335277822 rs150057715 |
133 | A>T | No |
ClinGen ESP |
|
| TCGA novel | 137 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764304764 CA10508600 |
138 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | M>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388250622 CA414274200 |
153 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 155 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313215576 CA414274372 |
163 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 171 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10508612 rs776323897 |
179 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs202127296 CA414274564 COSM376979 |
181 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
RCV000935167 CA10508613 rs202127296 |
181 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1603011712 CA414274570 |
182 | L>I | No |
ClinGen Ensembl |
|
|
CA414274574 rs1603011732 |
182 | L>S | No |
ClinGen Ensembl |
|
|
rs1239781217 COSM1465365 COSM1465364 CA414274598 |
184 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1682863 COSM72815 rs765673108 CA10508614 |
184 | R>W | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs940349769 CA335278019 |
191 | I>K | No |
ClinGen Ensembl |
|
| TCGA novel | 197 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 197 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764251561 CA10508617 |
205 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414275286 rs1350524820 |
226 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 234 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414275376 rs1225614353 |
239 | I>V | No |
ClinGen gnomAD |
|
|
rs1384192774 CA414275484 |
253 | N>K | No |
ClinGen TOPMed |
|
|
rs763563869 CA10508634 |
257 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM216178 COSM1598816 CA414275523 rs774761933 |
259 | R>* | endometrium central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774761933 CA10508636 |
259 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148395642 CA10508637 |
261 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1396727782 CA414275550 |
263 | R>K | No |
ClinGen TOPMed |
|
|
rs1192148162 CA414275560 |
265 | E>K | No |
ClinGen gnomAD |
|
|
CA414275568 rs1373595343 |
266 | L>I | No |
ClinGen gnomAD |
|
|
rs1162662365 CA414275595 |
270 | K>T | No |
ClinGen gnomAD |
|
|
rs780735530 CA10508652 |
280 | E>D | No |
ClinGen ExAC |
|
|
rs745329478 CA335278286 |
288 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745329478 CA10508653 |
288 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1114431 rs1375196362 CA414276407 COSM1598815 |
300 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1556521622 RCV000656308 CA414276436 |
303 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 311 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10508673 rs750012413 |
314 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 319 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 321 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 325 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 328 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 330 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 331 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335278431 rs868506126 |
340 | Q>* | No |
ClinGen gnomAD |
|
|
CA414277208 rs868506126 |
340 | Q>K | No |
ClinGen gnomAD |
|
|
CA414277242 rs1603031874 |
345 | L>I | No |
ClinGen Ensembl |
|
|
CA414277266 rs1603031916 |
348 | L>F | No |
ClinGen Ensembl |
|
|
CA10508707 rs778448074 |
349 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1603031971 CA414277276 |
350 | A>S | No |
ClinGen Ensembl |
|
|
rs1603032025 CA414277328 |
357 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 358 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759013056 CA10508709 |
360 | L>R | No |
ClinGen ExAC |
|
|
rs777011872 CA10508713 |
370 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA414277470 rs1392088687 |
376 | V>L | No |
ClinGen TOPMed |
|
|
CA335278433 rs995348190 |
379 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 381 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 385 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163513953 CA414277574 |
391 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 395 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335278862 rs939454725 |
401 | S>G | No |
ClinGen Ensembl |
|
|
CA10508735 rs770197898 |
403 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1265255072 CA414278050 |
405 | L>V | No |
ClinGen TOPMed |
|
|
rs749389623 CA10508737 |
406 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 406 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414278077 rs1420112309 |
408 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414278095 rs1373362816 |
409 | D>G | No |
ClinGen gnomAD |
|
|
COSM1176887 CA10508739 rs773224655 COSM1176886 |
409 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 412 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414278164 rs1342535955 |
415 | H>Y | No |
ClinGen TOPMed |
|
|
rs1278037289 CA414278225 |
421 | H>P | No |
ClinGen gnomAD |
|
|
rs776480387 CA10508742 |
421 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10508743 rs759178084 |
424 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414278291 rs1241113428 |
428 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764885530 CA10508744 |
433 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA414278343 rs1288649524 |
433 | Y>H | No |
ClinGen gnomAD |
|
|
rs762549395 CA10508767 |
438 | S>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1114434 CA10508768 rs777167759 COSM1598812 |
439 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA335278986 rs938628687 |
443 | E>K | No |
ClinGen TOPMed |
|
|
rs1569514541 CA414278503 |
445 | D>V | No |
ClinGen Ensembl |
|
|
CA414278500 rs1305062839 |
445 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10508770 rs146439650 |
448 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750775669 CA10508772 |
458 | A>V | No |
ClinGen ExAC |
|
|
rs2058255908 RCV001091711 |
459 | N>S | No |
ClinVar dbSNP |
|
|
rs1354286115 CA414278700 |
462 | K>R | No |
ClinGen TOPMed |
|
|
CA414278747 rs1386586384 |
465 | V>D | No |
ClinGen gnomAD |
|
|
rs1204287468 CA414279147 |
478 | A>V | No |
ClinGen gnomAD |
|
|
CA10508806 rs773897058 |
489 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414279231 rs773897058 |
489 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414279344 rs1370375655 |
499 | N>T | No |
ClinGen gnomAD |
|
|
rs1452107645 CA414279356 |
500 | S>R | No |
ClinGen gnomAD |
|
|
CA335279289 rs180841941 |
504 | E>* | No |
ClinGen 1000Genomes |
|
|
CA335279320 COSM4156566 rs868246507 COSM4156565 |
512 | A>V | thyroid [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA414279520 rs1304128992 |
513 | L>R | No |
ClinGen gnomAD |
|
|
CA414279526 rs1603078935 |
514 | T>K | No |
ClinGen Ensembl |
|
|
CA10508830 rs756013111 |
516 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1445658916 CA414279560 |
517 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA414279584 rs1603079013 |
519 | S>G | No |
ClinGen Ensembl |
|
|
CA10508831 rs779885225 |
520 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335279322 rs144820719 |
524 | I>V | No |
ClinGen ESP |
|
|
rs1603079107 CA414279658 |
525 | M>I | No |
ClinGen Ensembl |
|
|
CA10508832 rs753619338 |
525 | M>R | No |
ClinGen ExAC |
|
|
CA414279664 rs907474703 |
526 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA335279323 rs907474703 |
526 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA414279679 rs1434323354 |
527 | C>F | No |
ClinGen TOPMed |
|
|
rs1231750099 CA414279691 |
528 | T>I | No |
ClinGen gnomAD |
|
|
CA335279324 rs1004584591 |
529 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335279325 rs5911741 |
530 | R>K | No |
ClinGen Ensembl |
|
|
CA10508833 rs754708181 |
531 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs867113117 CA335279326 |
531 | Q>K | No |
ClinGen Ensembl |
|
|
CA335279327 rs1037054517 |
535 | C>S | No |
ClinGen gnomAD |
|
|
rs777363856 CA10508837 |
539 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10508850 rs755010560 |
547 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000925323 CA10508851 rs778840109 |
560 | R>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 568 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335279381 rs796768099 |
569 | V>G | No |
ClinGen Ensembl |
|
|
rs1219145999 CA414271914 |
569 | V>M | No |
ClinGen gnomAD |
|
|
rs777604512 CA10508854 |
570 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 571 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320089945 COSM755538 COSM1151456 CA414271932 |
572 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746483415 CA10508855 |
576 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10508876 rs146721074 |
578 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756572649 CA10508878 |
590 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs749843783 CA10508880 |
598 | E>Q | No |
ClinGen ExAC |
|
|
CA414272202 rs1237531973 |
600 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 600 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942468714 CA335279384 |
601 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 610 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755599197 CA10508899 |
617 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749851312 CA10508898 |
617 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178029506 CA414272544 |
618 | N>H | No |
ClinGen TOPMed |
|
|
rs906207520 CA335279429 |
618 | N>S | No |
ClinGen Ensembl |
|
|
CA10508900 rs770952439 |
619 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755536280 CA10508902 |
621 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10508903 rs779090714 |
624 | T>I | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 624 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779090714 CA414272659 |
624 | T>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 625 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 626 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403012606 CA414272781 |
634 | K>T | No |
ClinGen gnomAD |
|
|
CA414272808 rs1470956880 |
638 | A>T | No |
ClinGen gnomAD |
|
|
rs1329601883 CA414272816 |
639 | L>F | No |
ClinGen gnomAD |
|
|
rs774872309 CA10508905 |
640 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747288424 CA10508907 |
645 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335279430 rs1014634574 |
651 | D>H | No |
ClinGen Ensembl |
|
|
CA10508909 rs754094010 |
652 | I>T | No |
ClinGen ExAC |
|
|
CA10508910 rs771107294 |
655 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 664 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10508912 rs369728409 |
667 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM487906 CA10508911 COSM1138071 rs776905490 |
667 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs140406522 CA10508913 |
669 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414273287 rs1355412832 |
684 | A>V | No |
ClinGen gnomAD |
|
|
CA414273340 rs1255065900 |
692 | K>R | No |
ClinGen TOPMed |
|
|
CA414273382 rs1332603144 COSM456677 COSM1134334 |
698 | H>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA335279593 VAR_060114 rs6655782 |
699 | N>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA414273406 rs1438143063 |
700 | A>S | No |
ClinGen gnomAD |
|
|
CA10508949 rs758898527 |
706 | W>G | No |
ClinGen ExAC |
|
|
CA335279594 rs966712204 |
707 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs764457148 CA10508950 |
707 | D>V | No |
ClinGen ExAC TOPMed |
|
|
CA10508951 rs751973740 |
708 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA414273561 rs1473495975 |
710 | A>S | No |
ClinGen TOPMed |
|
|
CA414273564 rs1603095363 |
710 | A>V | No |
ClinGen Ensembl |
|
|
CA414273583 rs757510754 |
711 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757510754 CA10508952 |
711 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414273605 rs112417641 |
713 | Y>C | No |
ClinGen gnomAD |
|
|
CA335279595 rs112417641 |
713 | Y>F | No |
ClinGen gnomAD |
|
|
rs781585183 CA10508954 |
714 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1396312047 CA414273616 |
715 | L>V | No |
ClinGen gnomAD |
|
|
CA414273627 rs1603095576 |
716 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 718 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414273655 rs1477970164 |
721 | E>K | No |
ClinGen TOPMed |
|
|
CA414273674 rs1239113258 |
723 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA414273676 rs1239113258 |
723 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs138155911 CA335279596 |
726 | P>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 731 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774873046 CA10508972 |
731 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 732 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10508974 rs764726360 |
733 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 734 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 735 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757672488 CA10508976 |
738 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10508977 rs768032978 |
739 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1311707382 CA414274678 |
740 | V>I | No |
ClinGen gnomAD |
|
|
CA414274701 rs1224143578 |
741 | I>N | No |
ClinGen gnomAD |
|
|
rs1569516580 CA414274747 RCV001290272 |
743 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 744 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 746 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 750 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 750 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397467148 CA414274938 |
754 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 755 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4156567 CA10508989 rs745525022 COSM4156568 |
757 | D>Y | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10508991 rs754256233 |
760 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414275096 rs1569517186 |
764 | Q>H | No |
ClinGen Ensembl |
|
|
rs1291803371 CA414275103 |
765 | M>I | No |
ClinGen TOPMed |
|
|
CA10508992 rs762388218 |
772 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762388218 CA414275150 |
772 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10508993 rs763742892 |
774 | H>R | No |
ClinGen ExAC |
|
|
CA414275189 rs774965782 |
777 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10508994 rs774965782 |
777 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 780 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218270944 CA414275213 |
781 | T>A | No |
ClinGen gnomAD |
|
|
rs1299199661 CA414275948 |
787 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 790 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149551481 CA10509007 |
794 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751496296 CA10509008 |
807 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA414276243 rs1364412973 |
807 | R>H | No |
ClinGen gnomAD |
|
|
COSM1151459 CA10509010 rs780893951 COSM755535 |
809 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10509012 rs769435795 |
816 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414276423 rs1394120988 |
819 | S>C | No |
ClinGen TOPMed |
|
|
CA10509014 rs749008002 |
831 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1385652200 CA414276736 |
832 | H>Q | No |
ClinGen gnomAD |
|
|
rs1390822825 CA414276791 |
835 | I>F | No |
ClinGen TOPMed |
|
|
rs1446165031 CA414276797 |
835 | I>T | No |
ClinGen gnomAD |
|
|
CA414276964 rs1156815498 |
842 | N>S | No |
ClinGen gnomAD |
|
|
CA414277825 rs1198817281 |
845 | D>G | No |
ClinGen gnomAD |
|
|
rs1208998954 CA414277840 |
846 | G>S | No |
ClinGen gnomAD |
|
|
CA10509024 rs759823898 |
847 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA414277859 rs892429949 |
848 | Q>H | No |
ClinGen TOPMed |
|
|
CA10509025 rs765291092 |
850 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004139706 CA335280352 |
852 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA414277890 rs1223468326 |
853 | S>G | No |
ClinGen TOPMed |
|
|
CA414277945 rs1470511593 |
859 | H>N | No |
ClinGen gnomAD |
|
|
rs866229730 CA335280353 |
866 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 870 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479888407 CA414278153 |
875 | T>A | No |
ClinGen Ensembl |
|
|
rs868837089 CA414278282 |
881 | T>I | No |
ClinGen TOPMed |
|
|
CA335280356 rs868837089 |
881 | T>K | No |
ClinGen TOPMed |
|
|
rs1407172018 CA414278327 |
884 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1329811848 CA414278401 |
889 | Y>F | No |
ClinGen gnomAD |
|
|
rs1398805651 CA414278405 |
890 | M>L | No |
ClinGen gnomAD |
|
|
rs1376609150 CA414278416 |
891 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 892 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329908747 CA414278605 |
894 | N>S | No |
ClinGen gnomAD |
|
|
rs1174038923 CA414278630 |
896 | Y>C | No |
ClinGen TOPMed |
|
|
CA10509053 rs766022771 |
900 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 910 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216415127 CA414278999 |
914 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 914 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 917 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432722806 CA414279055 |
920 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 923 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 924 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763220686 CA10509068 |
930 | M>T | No |
ClinGen ExAC |
|
|
rs764078832 CA10509069 |
931 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 938 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474333835 CA414279971 |
939 | D>N | No |
ClinGen TOPMed |
|
|
rs1260183373 CA414280006 |
944 | T>A | No |
ClinGen TOPMed |
|
|
CA335280721 rs866361916 |
947 | G>D | No |
ClinGen Ensembl |
|
|
rs1490868348 CA414280033 |
948 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1214610561 CA414280070 |
953 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 961 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000996013 rs1603150691 CA414280160 |
966 | T>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267606337 CA10509074 |
968 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1444348926 CA414280182 |
970 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 971 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 974 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414280399 rs1254278387 |
976 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 977 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 982 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 986 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10509087 rs768937075 |
987 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10509088 rs768937075 |
987 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414280483 rs1158941950 |
988 | Q>P | No |
ClinGen gnomAD |
|
|
rs776686375 CA10509091 |
992 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 995 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414280530 rs1300741706 |
995 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs934233502 CA414280543 |
997 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA335280870 rs987552896 |
1006 | F>L | No |
ClinGen TOPMed |
|
|
rs752542119 CA10509094 |
1008 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA414280673 rs1569520230 |
1016 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10509096 rs763826309 |
1018 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA414280706 rs1384999249 |
1019 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1019 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272500849 CA414280714 |
1020 | V>G | No |
ClinGen gnomAD |
|
|
CA414280742 rs1344899467 |
1024 | K>R | No |
ClinGen gnomAD |
|
|
rs370347095 CA10509113 |
1031 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA335281116 rs906892722 |
1037 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 1044 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1227727 rs1372684971 COSM1227726 CA414280889 |
1045 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 1047 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414280930 rs1252221637 |
1052 | G>S | No |
ClinGen gnomAD |
|
|
CA414280967 rs1481946219 |
1057 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10509115 rs763848087 |
1060 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs146561651 CA10509114 |
1060 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10509117 rs761441740 |
1067 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA414281046 rs1379769920 |
1069 | T>A | No |
ClinGen TOPMed |
|
|
CA335281117 rs11555621 |
1069 | T>I | No |
ClinGen Ensembl |
|
|
CA414281064 rs1603172960 |
1072 | S>N | No |
ClinGen Ensembl |
|
|
rs1233225716 CA414281102 |
1077 | P>Q | No |
ClinGen gnomAD |
|
|
rs373076855 CA10509120 |
1078 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414281132 rs1443844104 |
1082 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 1084 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414281144 rs1179974787 |
1084 | V>M | No |
ClinGen TOPMed |
|
|
rs899980607 CA335281118 |
1085 | V>G | No |
ClinGen Ensembl |
|
|
rs1365068574 CA414281173 |
1088 | M>T | No |
ClinGen gnomAD |
|
|
rs755347757 CA10509123 |
1089 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs754342346 CA10509122 |
1089 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10509124 rs779201608 |
1090 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10509125 rs748396636 |
1091 | S>L | No |
ClinGen ExAC |
|
|
rs1364566054 CA414281217 |
1093 | T>I | No |
ClinGen gnomAD |
|
|
rs1360875392 CA414281273 |
1100 | D>E | No |
ClinGen gnomAD |
|
|
CA10509146 rs747270306 |
1101 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335281393 rs747270306 |
1101 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1104 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757404143 CA10509147 |
1107 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781199928 CA10509148 |
1108 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA414281343 rs1414860570 |
1110 | L>P | No |
ClinGen TOPMed |
|
|
CA10509150 rs768493739 |
1115 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10509149 rs749184468 |
1115 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774149981 CA10509151 |
1116 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1122 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370975120 CA10509154 |
1122 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10509155 rs760377864 |
1124 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10509156 rs765907622 |
1124 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1128 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400154883 CA414281495 |
1133 | R>W | No |
ClinGen gnomAD |
|
|
CA335281395 rs5911751 |
1134 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1135 | E>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414281548 rs1329196016 |
1140 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1142 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10509157 rs147520054 |
1144 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765683304 CA10509159 |
1150 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs765683304 CA10509160 |
1150 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1152 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452374486 CA414281670 |
1154 | D>N | No |
ClinGen gnomAD |
|
|
CA10509188 rs756126724 |
1157 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430304708 CA414282128 |
1158 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868559404 CA335281632 |
1159 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1162 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335281633 rs927258952 |
1168 | E>K | No |
ClinGen Ensembl |
|
|
CA414282211 rs1244849035 |
1170 | I>V | No |
ClinGen gnomAD |
|
|
rs1192437434 CA414282312 |
1184 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1187 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10509190 rs752627195 |
1188 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1191 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10509191 rs182467825 |
1194 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1200 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1202 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335281731 rs867285087 |
1205 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1569521908 CA414282479 |
1205 | R>Q | No |
ClinGen Ensembl |
|
|
rs1317142770 CA414282502 |
1208 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1208 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380172379 CA414282499 |
1208 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1214 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230398678 CA414282601 |
1222 | D>V | No |
ClinGen gnomAD |
|
|
rs201262699 CA10509209 |
1223 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1223 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414282635 rs1304348952 |
1226 | L>I | No |
ClinGen gnomAD |
2 associated diseases with Q8N3U4
[MIM: 301022]: Mullegama-Klein-Martinez syndrome (MKMS)
An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger. {ECO:0000269|PubMed:28296084, ECO:0000269|PubMed:29263825, ECO:0000269|PubMed:30158690, ECO:0000269|PubMed:30447054}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 301043]: Holoprosencephaly 13, X-linked (HPE13)
An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. {ECO:0000269|PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger. {ECO:0000269|PubMed:28296084, ECO:0000269|PubMed:29263825, ECO:0000269|PubMed:30158690, ECO:0000269|PubMed:30447054}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. {ECO:0000269|PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| cohesin complex | A protein complex that is required for sister chromatid cohesion in eukaryotes. The cohesin complex forms a molecular ring complex, and is composed of structural maintenance of chromosomes (SMC) and kleisin proteins. For example, in yeast, the complex is composed of the SMC proteins Smc1p and Smc3p, and the kleisin protein Scc1p. In vertebrates, the complex is composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domains to a kleisin (RAD21, REC8 or RAD21L) which links them, and one STAG protein (STAG1, STAG2 or STAG3). |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitotic spindle pole | Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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 |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| establishment of meiotic sister chromatid cohesion | The process in which the sister chromatids of a replicated chromosome become joined along the entire length of the chromosome during S phase during a meiotic cell cycle. |
| mitotic spindle assembly | Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied. |
| sister chromatid cohesion | The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40541 | IRR1 | Cohesin subunit SCC3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9UJ98 | STAG3 | Cohesin subunit SA-3 | Homo sapiens (Human) | PR |
| O70576 | Stag3 | Cohesin subunit SA-3 | Mus musculus (Mouse) | PR |
| O35638 | Stag2 | Cohesin subunit SA-2 | Mus musculus (Mouse) | PR |
| Q99M76 | Stag3 | Cohesin subunit SA-3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIAAPEIPTD | FNLLQESETH | FSSDTDFEDI | EGKNQKQGKG | KTCKKGKKGP | AEKGKGGNGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKPPSGPNRM | NGHHQQNGVE | NMMLFEVVKM | GKSAMQSVVD | DWIESYKHDR | DIALLDLINF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FIQCSGCKGV | VTAEMFRHMQ | NSEIIRKMTE | EFDEDSGDYP | LTMAGPQWKK | FKSSFCEFIG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLVRQCQYSI | IYDEYMMDTV | ISLLTGLSDS | QVRAFRHTST | LAAMKLMTAL | VNVALNLSIN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MDNTQRQYEA | ERNKMIGKRA | NERLELLLQK | RKELQENQDE | IENMMNAIFK | GVFVHRYRDA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IAEIRAICIE | EIGIWMKMYS | DAFLNDSYLK | YVGWTMHDKQ | GEVRLKCLTA | LQGLYYNKEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NSKLELFTSR | FKDRIVSMTL | DKEYDVAVQA | IKLLTLVLQS | SEEVLTAEDC | ENVYHLVYSA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HRPVAVAAGE | FLYKKLFSRR | DPEEDGMMKR | RGRQGPNANL | VKTLVFFFLE | SELHEHAAYL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VDSMWDCATE | LLKDWECMNS | LLLEEPLSGE | EALTDRQESA | LIEIMLCTIR | QAAECHPPVG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RGTGKRVLTA | KEKKTQLDDR | TKITELFAVA | LPQLLAKYSV | DAEKVTNLLQ | LPQYFDLEIY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TTGRLEKHLD | ALLRQIRNIV | EKHTDTDVLE | ACSKTYHALC | NEEFTIFNRV | DISRSQLIDE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LADKFNRLLE | DFLQEGEEPD | EDDAYQVLST | LKRITAFHNA | HDLSKWDLFA | CNYKLLKTGI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ENGDMPEQIV | IHALQCTHYV | ILWQLAKITE | SSSTKEDLLR | LKKQMRVFCQ | ICQHYLTNVN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TTVKEQAFTI | LCDILMIFSH | QIMSGGRDML | EPLVYTPDSS | LQSELLSFIL | DHVFIEQDDD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NNSADGQQED | EASKIEALHK | RRNLLAAFCK | LIVYTVVEMN | TAADIFKQYM | KYYNDYGDII |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KETMSKTRQI | DKIQCAKTLI | LSLQQLFNEM | IQENGYNFDR | SSSTFSGIKE | LARRFALTFG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LDQLKTREAI | AMLHKDGIEF | AFKEPNPQGE | SHPPLNLAFL | DILSEFSSKL | LRQDKRTVYV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| YLEKFMTFQM | SLRREDVWLP | LMSYRNSLLA | GGDDDTMSVI | SGISSRGSTV | RSKKSKPSTG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KRKVVEGMQL | SLTEESSSSD | SMWLSREQTL | HTPVMMQTPQ | LTSTIMREPK | RLRPEDSFMS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VYPMQTEHHQ | TPLDYNRRGT | SLMEDDEEPI | VEDVMMSSEG | RIEDLNEGMD | FDTMDIDLPP |
| 1210 | 1220 | 1230 | |||
| SKNRRERTEL | KPDFFDPASI | MDESVLGVSM | F |