Q9UJ98
PR
Gene name |
STAG3 |
Protein name |
Cohesin subunit SA-3 |
Names |
SCC3 homolog 3, Stromal antigen 3, Stromalin-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10734 |
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 Q9UJ98
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UJ98-F1 | Predicted | AlphaFoldDB |
503 variants for Q9UJ98
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs587777267 RCV000114367 |
188 | Q>missing | Premature ovarian failure 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1031011371 RCV001072103 VAR_086738 RCV001797149 RCV001797148 TCGA novel |
321 | R>H | Variant assessed as Somatic; impact. PRIMARY OVARIAN FAILURE 8 Spermatogenic failure 61 Premature ovarian failure 8 POF8 and SPGF61 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinVar NCI-TCGA dbSNP UniProt |
|
CA368492709 RCV001270205 rs774733445 |
357 | R>* | Premature ovarian failure [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001797137 VAR_086739 rs1161498711 CA368493842 RCV000791327 |
421 | L>R | Spermatogenic failure 61 SPGF61 [ClinVar, UniProt] | Yes |
ClinGen ClinVar dbSNP gnomAD UniProt |
|
rs751680143 RCV000791328 RCV001797138 CA4378406 |
438 | R>* | Spermatogenic failure 61 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_086740 | 438 | R>del | SPGF61 [UniProt] | Yes | UniProt |
|
RCV001078176 rs1800917478 |
524 | Q>missing | Premature ovarian failure 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869320765 RCV000210481 |
650 | Y>missing | Premature ovarian failure 8 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086741 | 650 | Y>del | POF8 [UniProt] | Yes | UniProt |
|
RCV000415001 RCV001078177 RCV000415224 rs764841861 RCV001782893 |
926 | R>* | Premature ovarian failure 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1354314366 CA368481366 |
2 | S>F | No |
ClinGen gnomAD |
|
|
rs1177530694 CA368481374 |
3 | S>P | No |
ClinGen gnomAD |
|
|
CA4377969 rs140021945 |
4 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1162449856 CA368481396 |
4 | P>S | No |
ClinGen TOPMed |
|
|
rs1364262625 CA368481422 |
5 | L>S | No |
ClinGen TOPMed |
|
|
CA4377971 rs185880189 |
8 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1479410094 CA368481529 |
10 | G>R | No |
ClinGen gnomAD |
|
|
CA368481538 rs1562962953 |
10 | G>V | No |
ClinGen Ensembl |
|
|
rs1562962959 CA368481554 |
11 | D>G | No |
ClinGen Ensembl |
|
|
CA368481582 rs1285468696 |
12 | T>I | No |
ClinGen Ensembl |
|
|
CA4377972 rs570514104 |
12 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1249275878 CA368481591 |
13 | K>E | No |
ClinGen TOPMed |
|
|
CA163219830 rs912177926 |
14 | R>K | No |
ClinGen TOPMed |
|
|
rs375388236 CA4377973 |
15 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4377974 rs11531577 |
16 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4377976 rs760422102 |
18 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4377975 rs752628980 |
18 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA368481696 rs760422102 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1287554298 CA368481725 |
21 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763885619 CA4377977 |
21 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs750661592 CA4377978 |
23 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs778900186 CA4377979 |
24 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA368481853 rs1448949217 |
27 | P>S | No |
ClinGen gnomAD |
|
|
rs755065743 CA4377982 |
29 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4377985 rs191137766 CA4377984 |
30 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781574317 CA4377983 |
30 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA163219886 rs914034998 |
31 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368482021 rs1197499971 |
34 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458675899 CA368482040 |
35 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4377986 rs778339416 |
35 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770743463 CA4377988 |
36 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770743463 CA368482072 |
36 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2272343 CA4377987 |
36 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477946958 CA368482077 |
37 | S>A | No |
ClinGen gnomAD |
|
|
CA4377989 rs548854367 |
37 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 38 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4377991 rs758988656 |
39 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1427590685 CA368482128 |
39 | G>R | No |
ClinGen gnomAD |
|
|
rs758988656 CA4377990 |
39 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368482477 rs1425197126 |
40 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1341979988 CA368482495 |
42 | D>N | No |
ClinGen gnomAD |
|
|
CA368482530 rs1584649491 |
43 | S>A | No |
ClinGen Ensembl |
|
|
rs1432062096 CA368482545 |
44 | L>S | No |
ClinGen gnomAD |
|
|
CA368482595 rs1562964345 |
47 | D>E | No |
ClinGen Ensembl |
|
|
CA368482589 rs1439078672 |
47 | D>G | No |
ClinGen TOPMed |
|
|
rs778737784 CA4378011 |
50 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368831215 CA4378012 |
51 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 53 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323524137 CA368482676 |
53 | E>V | No |
ClinGen TOPMed |
|
|
rs1210985142 CA368482695 |
54 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163220948 rs200232685 |
58 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775128180 CA4378014 |
58 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775128180 CA368482781 |
58 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200232685 CA4378013 |
58 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378015 rs746500893 |
59 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200800005 CA163220965 |
59 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1372008175 CA368482853 |
61 | K>N | No |
ClinGen gnomAD |
|
|
rs776527887 CA4378017 |
61 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367988700 CA368482883 |
63 | R>I | No |
ClinGen gnomAD |
|
|
CA368482878 rs1367988700 |
63 | R>K | No |
ClinGen gnomAD |
|
|
CA4378018 rs761620488 |
66 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378019 rs764978239 |
67 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378020 rs775358985 |
67 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378022 rs767628834 |
69 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4378021 rs759858941 |
69 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1221260609 CA368483001 |
70 | K>N | No |
ClinGen TOPMed |
|
|
CA368482990 rs1366866455 |
70 | K>R | No |
ClinGen gnomAD |
|
|
rs1217539511 CA368483009 |
71 | T>S | No |
ClinGen gnomAD |
|
|
rs756236220 CA4378024 |
72 | T>P | No |
ClinGen ExAC TOPMed |
|
|
CA4378025 rs370022253 COSM1227731 |
73 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4378047 rs147654811 |
74 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765661190 CA368483192 |
77 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs765661190 CA4378049 |
77 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs142339148 CA4378051 |
81 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142339148 CA368483268 |
81 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163221381 rs990599928 |
81 | G>R | No |
ClinGen TOPMed |
|
|
CA4378050 rs142339148 |
81 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368483286 rs1241537826 |
83 | R>* | No |
ClinGen TOPMed |
|
|
COSM748235 rs779780283 CA4378052 |
83 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1398936777 CA368483310 |
84 | V>A | No |
ClinGen gnomAD |
|
|
rs370462397 CA4378053 |
86 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378054 rs370289545 |
87 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4378055 rs370289545 |
87 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4378056 rs747651393 |
87 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4378058 rs769762698 |
90 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4378059 rs749127387 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378057 rs769762698 |
90 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs143257205 CA4378062 |
92 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760920338 CA4378065 |
94 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM323634 rs1216659737 CA368484117 |
94 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1338673212 CA368484141 |
95 | P>L | No |
ClinGen TOPMed |
|
|
rs776921708 CA368484149 |
96 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs776921708 COSM291357 CA4378067 |
96 | P>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1487446490 CA368484184 |
98 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4378068 rs549384827 |
98 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1335723081 CA368484308 |
105 | K>Q | No |
ClinGen TOPMed |
|
|
rs567570365 CA4378070 |
106 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4378072 rs766587372 |
107 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751228249 CA4378073 |
108 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4378075 rs199816977 |
111 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4378076 rs199816977 |
111 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1431777803 CA368484786 |
113 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378096 rs767179471 |
116 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368484865 rs1161310620 |
117 | E>D | No |
ClinGen gnomAD |
|
|
rs1322691791 CA368484889 |
118 | W>C | No |
ClinGen TOPMed |
|
|
CA4378098 rs755650872 |
118 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1390809927 CA368484937 |
120 | D>V | No |
ClinGen TOPMed |
|
|
CA368484946 rs1237738490 |
121 | S>N | No |
ClinGen gnomAD |
|
|
CA4378101 rs757211419 |
122 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs778966680 CA4378102 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA368485015 rs745709659 |
124 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378103 rs745709659 |
124 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456314378 CA368485065 |
126 | Q>R | No |
ClinGen TOPMed |
|
|
rs1425264544 CA368485081 |
127 | D>H | No |
ClinGen TOPMed |
|
|
CA4378106 rs140896359 |
128 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781597384 CA4378105 |
128 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378108 rs773224493 |
130 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs771475684 CA4378110 |
132 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4378111 rs774790527 |
133 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4378112 rs759925806 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465723508 CA368485241 |
137 | F>L | No |
ClinGen TOPMed |
|
|
rs376281363 CA4378114 |
141 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357626373 CA368485333 COSM3431945 |
142 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA368485374 rs1337432474 COSM3367100 |
143 | C>Y | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 147 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255229960 CA368486784 |
147 | V>M | No |
ClinGen TOPMed |
|
|
CA368486831 rs1354718937 |
148 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA368486953 rs761072993 |
152 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4378134 rs761072993 |
152 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378135 rs763706357 |
155 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1272980523 CA368487089 COSM603123 |
156 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs61756195 CA4378136 |
156 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4378138 rs761259984 COSM1235151 |
157 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4378137 rs761259984 |
157 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531783577 CA163226907 |
162 | Q>R | No |
ClinGen Ensembl |
|
|
rs543999124 CA4378140 |
163 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4378141 rs373396363 |
165 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4378160 rs774733921 |
172 | S>L | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368487557 rs1156824213 |
177 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4378163 rs767284902 |
181 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368487633 rs1318501343 |
182 | P>S | No |
ClinGen gnomAD |
|
|
rs1445172729 CA368487754 |
188 | Q>* | No |
ClinGen gnomAD |
|
|
CA4378166 rs779073871 |
196 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA368487917 rs1415210701 |
197 | T>A | No |
ClinGen gnomAD |
|
|
rs750553650 CA4378167 |
197 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1294444399 CA368487931 |
198 | L>S | No |
ClinGen gnomAD |
|
|
CA368487997 rs1351904061 |
201 | Q>* | No |
ClinGen gnomAD |
|
|
rs545809700 CA4378168 |
201 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262688966 CA368488015 |
202 | C>Y | No |
ClinGen gnomAD |
|
|
CA4378169 rs141587573 |
205 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4378171 rs201755317 |
205 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4378172 rs368311063 |
206 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368488100 rs1307579268 |
207 | L>P | No |
ClinGen TOPMed |
|
|
rs1165337774 CA368488113 |
208 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368488114 rs1165337774 |
208 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 210 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378174 rs769612978 |
213 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4378173 rs748521171 |
213 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378175 rs772947890 |
214 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4378176 rs748835712 |
215 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412063855 CA368488257 |
217 | I>V | No |
ClinGen gnomAD |
|
|
rs1289429589 CA368488307 |
220 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1375229285 CA368488347 |
222 | G>V | No |
ClinGen gnomAD |
|
|
CA4378178 COSM4149453 rs774165002 |
223 | L>F | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4378180 rs767350950 |
226 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs760438992 CA4378183 |
229 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA4378185 rs750605028 |
230 | A>T | No |
ClinGen ExAC |
|
|
rs758478041 CA4378187 |
230 | A>V | No |
ClinGen ExAC |
|
|
CA368488511 rs766424420 |
232 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4378188 rs766424420 |
232 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369626284 CA368488534 |
234 | T>I | No |
ClinGen Ensembl |
|
|
CA4378189 rs376136304 |
235 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365224838 CA368488576 |
238 | A>T | No |
ClinGen gnomAD |
|
|
rs1432040922 CA368488594 |
239 | A>S | No |
ClinGen TOPMed |
|
|
rs945007360 CA163227409 |
244 | T>I | No |
ClinGen TOPMed |
|
|
rs766509647 CA4378209 |
246 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403483564 CA368488824 |
247 | V>A | No |
ClinGen gnomAD |
|
|
rs201972959 CA163227412 |
248 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1302839899 CA368488849 |
249 | V>F | No |
ClinGen gnomAD |
|
|
rs1346368796 CA368488879 |
250 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1373859406 CA368488887 |
251 | L>F | No |
ClinGen gnomAD |
|
|
rs137961014 CA4378211 |
252 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149453723 CA368488919 |
252 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756557118 CA4378214 |
255 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368489049 rs1269202820 |
259 | N>K | No |
ClinGen gnomAD |
|
|
CA4378216 rs749665678 |
261 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs756973504 CA4378217 |
262 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369812552 CA4378218 |
262 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369812552 CA163227444 |
262 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428520975 CA368489117 |
263 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs745404761 CA4378219 |
266 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA163227455 rs1055676300 |
266 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1163309601 CA368489169 |
267 | E>Q | No |
ClinGen gnomAD |
|
|
rs771445470 CA4378220 |
271 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1332217735 CA368489243 |
271 | G>V | No |
ClinGen gnomAD |
|
|
rs779973436 CA4378221 |
272 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs373738946 CA163227472 |
273 | G>E | No |
ClinGen Ensembl |
|
|
CA4378223 rs768568468 |
275 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1400971698 CA368489326 |
277 | P>S | No |
ClinGen TOPMed |
|
|
rs776480376 CA4378224 |
278 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378225 rs761486432 |
279 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1245101137 CA368489350 |
279 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs185896117 CA163227487 |
280 | L>M | No |
ClinGen 1000Genomes |
|
|
CA163227491 rs543460262 |
282 | S>G | No |
ClinGen Ensembl |
|
|
rs1485941121 CA368489443 |
286 | K>T | No |
ClinGen gnomAD |
|
|
CA4378228 rs759663178 |
287 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378229 rs767644022 |
287 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767644022 CA4378230 |
287 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368489458 rs1443360656 |
288 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4378231 rs761331641 |
289 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1373727772 CA368490708 |
290 | L>V | No |
ClinGen gnomAD |
|
|
rs1280904338 CA368490717 |
291 | Q>* | No |
ClinGen gnomAD |
|
|
rs1322307500 CA368490780 |
293 | H>R | No |
ClinGen gnomAD |
|
|
rs754437572 CA4378261 |
294 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs141286726 CA4378262 |
295 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368490855 rs1332852797 |
296 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 297 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378263 rs747974914 |
297 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA368490967 rs1232674147 |
299 | G>E | No |
ClinGen gnomAD |
|
|
rs1481125983 CA368490996 |
300 | M>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 303 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777493024 CA4378265 |
306 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1480177911 CA368491237 |
308 | V>A | No |
ClinGen gnomAD |
|
|
rs150866901 CA4378267 |
310 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408162370 CA368491326 |
312 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1431493418 CA368491322 |
312 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | Y>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163230718 rs112330770 |
313 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4378269 rs112330770 |
313 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775804304 CA4378268 |
313 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259079832 CA368491637 |
320 | I>S | No |
ClinGen TOPMed |
|
|
CA4378282 rs766991165 |
320 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378283 rs201133424 |
321 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031011371 CA163232206 |
321 | R>L | No |
ClinGen TOPMed |
|
|
CA4378284 rs140084970 |
323 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368491709 rs1290072573 |
324 | C>F | No |
ClinGen gnomAD |
|
|
CA368491696 rs1231209113 |
324 | C>G | No |
ClinGen gnomAD |
|
|
CA368491728 rs1359098290 |
325 | I>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 327 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378285 rs371183993 |
328 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445412198 CA368491889 |
330 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1218633908 CA368491918 |
331 | W>L | No |
ClinGen TOPMed |
|
|
rs757075796 CA4378287 |
332 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378288 rs780426423 |
333 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378290 rs576937443 |
337 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748229184 CA4378292 |
338 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1401797367 CA368492135 |
339 | F>C | No |
ClinGen TOPMed |
|
|
CA368492207 rs1399654718 |
341 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352616907 CA368492383 |
349 | G>S | No |
ClinGen TOPMed |
|
|
rs376143997 CA163232248 |
350 | W>* | No |
ClinGen ESP TOPMed |
|
|
CA4378314 rs774733445 |
357 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759868692 CA4378315 |
357 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378316 rs771643999 |
360 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA368492774 rs1436946708 |
360 | R>H | No |
ClinGen gnomAD |
|
|
rs530499520 CA4378318 |
363 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368492963 rs1467026883 |
370 | L>P | No |
ClinGen gnomAD |
|
|
CA368492993 rs1391162533 |
372 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4378323 rs750293273 |
372 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378324 rs750293273 |
372 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163232704 rs1032610030 |
373 | N>K | No |
ClinGen TOPMed |
|
|
rs752900742 CA4378326 |
374 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781304872 CA4378325 |
374 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777893703 CA368493069 |
377 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368493080 rs1317257104 |
377 | T>I | No |
ClinGen TOPMed |
|
|
rs777893703 CA4378328 |
377 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778597733 CA4378329 |
378 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012434188 CA163232731 |
378 | T>I | No |
ClinGen TOPMed |
|
|
CA4378330 rs771473486 |
379 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779342202 CA4378331 |
379 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378334 rs775018201 |
381 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772412697 CA4378333 |
381 | E>G | No |
ClinGen ExAC |
|
|
rs768419397 CA4378336 |
382 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761386898 CA4378338 |
383 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs750348426 CA4378340 |
384 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs200704195 CA4378339 |
384 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA368493184 rs1584711257 |
385 | S>G | No |
ClinGen Ensembl |
|
|
rs1360773914 CA368493192 |
385 | S>T | No |
ClinGen gnomAD |
|
|
CA163232805 rs62625012 |
386 | R>C | No |
ClinGen Ensembl |
|
|
CA368493211 COSM268343 rs1434389254 |
386 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1434389254 CA368493217 |
386 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs371785356 CA163233052 |
390 | R>Q | No |
ClinGen ESP TOPMed |
|
|
rs776375900 CA4378354 |
390 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1584712462 CA368493418 |
392 | V>G | No |
ClinGen Ensembl |
|
|
rs1562981065 CA368493446 |
394 | M>T | No |
ClinGen Ensembl |
|
|
CA368493438 rs1163242972 |
394 | M>V | No |
ClinGen gnomAD |
|
|
CA4378356 rs201353654 |
395 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA163233068 rs201648813 |
395 | V>L | No |
ClinGen 1000Genomes |
|
|
rs773040515 CA4378357 |
396 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs200807873 CA163233072 |
398 | R>G | No |
ClinGen 1000Genomes |
|
|
CA163233075 rs199906943 |
398 | R>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs199906943 CA368493524 |
398 | R>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs766192338 CA4378360 |
399 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368493567 rs1435746712 |
401 | D>E | No |
ClinGen gnomAD |
|
|
CA4378362 rs759274229 |
402 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs753991610 CA4378364 |
403 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1584712688 CA368493597 |
404 | V>G | No |
ClinGen Ensembl |
|
|
rs1260233396 CA368493591 |
404 | V>M | No |
ClinGen gnomAD |
|
|
rs1584712732 CA368493609 |
405 | E>G | No |
ClinGen Ensembl |
|
|
CA4378367 rs750465952 |
408 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554407268 CA4378369 |
411 | I>M | No |
ClinGen Ensembl |
|
|
rs540413137 CA4378368 |
411 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4378371 rs780404562 |
412 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs747424431 CA4378372 |
413 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA368493689 rs1304677852 |
413 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4378390 rs755410628 |
417 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378391 rs781730286 |
422 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4378394 rs777238186 |
424 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368493882 rs1439737411 |
424 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770278477 CA4378396 |
426 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4378397 rs778921439 |
428 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771992591 CA4378399 |
429 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378400 rs775304297 |
430 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4378403 rs773267767 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770078720 CA4378402 |
432 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251494717 CA368493987 |
433 | V>L | No |
ClinGen gnomAD |
|
|
rs766314905 CA4378405 |
435 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242645383 CA368494029 |
436 | S>F | No |
ClinGen TOPMed |
|
|
rs1584714529 CA368494035 |
437 | H>D | No |
ClinGen Ensembl |
|
|
rs760190813 CA4378407 |
438 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1191757769 CA368494065 |
439 | G>V | No |
ClinGen gnomAD |
|
|
COSM603119 rs149765159 CA4378408 |
444 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368494113 rs756390673 |
446 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378410 COSM1453402 rs756390673 |
446 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA368494112 rs756390673 |
446 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291321554 CA368494116 |
446 | E>V | No |
ClinGen TOPMed |
|
|
CA4378411 rs777483420 |
450 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1293350099 CA368494203 |
456 | E>D | No |
ClinGen TOPMed |
|
|
CA368494198 rs1316831623 |
456 | E>Q | No |
ClinGen TOPMed |
|
|
CA4378431 rs764422687 |
457 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA163233632 rs947735078 |
457 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs754225345 CA4378432 |
458 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4378434 rs149767669 |
461 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231045103 CA368494251 |
463 | G>C | No |
ClinGen gnomAD |
|
|
rs1332649121 CA368494258 |
464 | G>A | No |
ClinGen TOPMed |
|
|
CA4378436 rs757866056 |
464 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4378437 rs779973542 |
465 | R>T | No |
ClinGen ExAC |
|
|
rs539912996 COSM175710 CA4378439 |
468 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs1210611804 CA368494292 |
469 | Q>L | No |
ClinGen gnomAD |
|
|
rs145719011 CA4378441 COSM1227733 |
473 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4378443 rs561961816 |
475 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368494330 rs561961816 |
475 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573858879 CA368494424 |
489 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA163233683 rs573858879 |
489 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| rs772416588 | 490 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378462 rs146609079 |
490 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775751338 CA4378464 |
493 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
rs1289077894 CA368495642 |
494 | A>G | No |
ClinGen gnomAD |
|
|
CA368495638 rs10260215 |
494 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs10260215 CA4378467 |
494 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs10260215 CA4378466 |
494 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762089807 CA4378468 |
495 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539090342 CA163233910 |
504 | C>S | No |
ClinGen 1000Genomes |
|
|
CA368495822 rs1270573241 |
505 | A>T | No |
ClinGen gnomAD |
|
|
COSM603118 CA4378472 rs765988932 |
508 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762664360 CA4378471 |
508 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751084132 CA4378473 |
509 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759043323 CA4378474 |
513 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1377541722 CA368495986 |
514 | G>D | No |
ClinGen gnomAD |
|
|
rs1197449209 CA368495979 |
514 | G>S | No |
ClinGen gnomAD |
|
|
rs1377541722 CA368495988 |
514 | G>V | No |
ClinGen gnomAD |
|
|
rs752618983 CA4378476 |
516 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756105314 CA4378478 |
516 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs756105314 CA4378477 |
516 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 521 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4378482 rs747089940 |
523 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368496260 rs1243536369 |
527 | G>D | No |
ClinGen gnomAD |
|
|
CA4378504 rs770338935 |
528 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA368496269 rs1443621544 |
528 | D>H | No |
ClinGen TOPMed |
|
|
CA4378505 rs778208860 |
529 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368496287 rs778208860 |
529 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378506 rs368796564 |
530 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs980933139 CA368496365 |
533 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs980933139 CA163234118 |
533 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1164274700 CA368496471 |
540 | S>F | No |
ClinGen gnomAD |
|
|
rs1318501700 CA368496511 |
543 | R>Q | No |
ClinGen gnomAD |
|
|
rs544394583 COSM241781 CA4378509 |
543 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1438525491 CA368496570 |
547 | E>D | No |
ClinGen gnomAD |
|
|
rs1554407771 CA4378510 |
547 | E>G | No |
ClinGen Ensembl |
|
|
CA368496578 rs1387786366 |
548 | G>R | No |
ClinGen gnomAD |
|
|
CA4378512 rs771590735 |
549 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1435658985 CA368496595 |
549 | H>Y | No |
ClinGen gnomAD |
|
|
CA4378513 rs775113819 |
550 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1376629253 CA368496609 |
550 | P>S | No |
ClinGen gnomAD |
|
|
CA368496626 rs1438870079 |
552 | V>M | No |
ClinGen gnomAD |
|
|
rs1267287606 CA368496640 |
553 | G>S | No |
ClinGen TOPMed |
|
|
rs1226017476 CA368496645 |
553 | G>V | No |
ClinGen gnomAD |
|
|
CA163234153 rs961408883 |
554 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs578178474 CA4378516 |
554 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1209832637 CA368496655 |
555 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1209832637 CA368496653 |
555 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1250304262 CA368496672 |
557 | G>R | No |
ClinGen gnomAD |
|
|
rs757697629 CA4378530 |
562 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779372317 CA4378531 |
563 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184312865 CA368496807 |
563 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1422950870 CA368496816 |
564 | K>R | No |
ClinGen gnomAD |
|
|
CA163234635 rs1050008131 |
566 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1176564901 CA368496836 |
566 | R>H | No |
ClinGen gnomAD |
|
|
rs1584723995 CA368496851 |
568 | T>P | No |
ClinGen Ensembl |
|
|
rs746206822 CA4378532 |
569 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4378534 rs775217092 |
571 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368496910 rs1370706453 |
572 | D>V | No |
ClinGen gnomAD |
|
|
CA368496923 rs1411094457 |
573 | R>K | No |
ClinGen gnomAD |
|
|
rs1243421452 CA368496930 |
573 | R>S | No |
ClinGen TOPMed |
|
|
CA368496933 rs1281827547 |
574 | V>M | No |
ClinGen gnomAD |
|
|
CA4378535 rs140336185 |
575 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219111448 CA368496985 |
577 | T>I | No |
ClinGen gnomAD |
|
|
CA368497015 rs1584724161 |
579 | H>P | No |
ClinGen Ensembl |
|
|
CA4378536 rs768231456 |
580 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 583 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368497107 rs1206744661 |
585 | P>R | No |
ClinGen gnomAD |
|
|
CA368497098 rs1483452657 |
585 | P>T | No |
ClinGen gnomAD |
|
|
rs1477660478 CA368497117 |
586 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1477660478 CA368497113 |
586 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 590 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773114465 CA4378540 |
590 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA368497291 rs1412532271 |
593 | A>G | No |
ClinGen gnomAD |
|
|
rs746707797 CA4378554 |
594 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768390770 CA4378555 |
596 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA368497363 rs1347014625 |
597 | K>N | No |
ClinGen TOPMed |
|
|
CA4378556 rs376825315 |
597 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368497381 rs1433479841 |
599 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4378558 COSM1094015 rs769780322 |
600 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4378559 rs188578171 |
602 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762833233 CA4378560 |
605 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378561 rs770766331 |
607 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4378562 rs562712660 |
607 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202208809 CA163234926 |
610 | L>F | No |
ClinGen 1000Genomes |
|
|
CA368497562 rs1455838272 |
611 | H>R | No |
ClinGen TOPMed |
|
|
CA368497610 rs1207955503 |
614 | C>R | No |
ClinGen gnomAD |
|
|
rs369352595 CA4378564 |
617 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4378565 rs753967260 |
617 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA163234947 rs753967260 |
617 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4378567 rs551702794 |
618 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185019652 CA368497677 |
619 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 639 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 648 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745695694 | 656 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 698 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 706 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 706 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1205575445 | 712 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765579451 | 748 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372110074 | 775 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 782 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778263394 | 790 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 805 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 823 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372921469 | 849 | P>L | Variant assessed as Somatic; 0.000416 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777245782 | 866 | R>Q | Variant assessed as Somatic; 0.0007396 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs548943507 | 870 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 871 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs148735100 | 872 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 884 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747309208 | 921 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 941 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763206398 | 970 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751623475 | 976 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748067739 | 976 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776239111 | 1009 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs950641068 | 1016 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779587903 | 1016 | S>P | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746271999 | 1018 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747177515 | 1077 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768824588 | 1077 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371957435 | 1078 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1377124157 | 1082 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1086 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1463064212 | 1089 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769790401 | 1141 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1145 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374856074 | 1145 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1162 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777525062 | 1194 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1201 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749884932 | 1205 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1214 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1219 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761260270 | 1222 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with Q9UJ98
[MIM: 615723]: Premature ovarian failure 8 (POF8)
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:24597867, ECO:0000269|PubMed:30006057, ECO:0000269|PubMed:32634216, ECO:0000303|PubMed:22428046}. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in STAG3 predicted to result in frameshift and premature truncation, has been shown to be the cause of premature ovarian failure in a large consanguineous family. {ECO:0000269|PubMed:24597867}.
[MIM: 619672]: Spermatogenic failure 61 (SPGF61)
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to complete meiotic arrest at the primary spermatocyte stage. {ECO:0000269|PubMed:31682730, ECO:0000269|PubMed:32634216}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:24597867, ECO:0000269|PubMed:30006057, ECO:0000269|PubMed:32634216, ECO:0000303|PubMed:22428046}. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in STAG3 predicted to result in frameshift and premature truncation, has been shown to be the cause of premature ovarian failure in a large consanguineous family. {ECO:0000269|PubMed:24597867}.
- An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to complete meiotic arrest at the primary spermatocyte stage. {ECO:0000269|PubMed:31682730, ECO:0000269|PubMed:32634216}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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). |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| meiotic cohesin complex | A cohesin complex that mediates sister chromatid cohesion during meiosis; has a subunit composition distinct from that of the mitotic cohesin complex. |
| 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. |
| synaptonemal complex | A proteinaceous scaffold found between homologous chromosomes during meiosis. It consists of 2 lateral elements and a central element, all running parallel to each other. Transverse filaments connect the lateral elements to the central element. |
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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| sister chromatid cohesion | The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other. |
| synaptonemal complex assembly | The cell cycle process in which the synaptonemal complex is formed. This is a structure that holds paired chromosomes together during prophase I of meiosis and that promotes genetic recombination. |
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 |
| Q8N3U4 | STAG2 | Cohesin subunit SA-2 | Homo sapiens (Human) | PR |
| O35638 | Stag2 | Cohesin subunit SA-2 | Mus musculus (Mouse) | PR |
| O70576 | Stag3 | Cohesin subunit SA-3 | Mus musculus (Mouse) | PR |
| Q99M76 | Stag3 | Cohesin subunit SA-3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSPLQRAVG | DTKRALSASS | SSSASLPFDD | RDSNHTSEGN | GDSLLADEDT | DFEDSLNRNV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKRAAKRPPK | TTPVAKHPKK | GSRVVHRHSR | KQSEPPANDL | FNAVKAAKSD | MQSLVDEWLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SYKQDQDAGF | LELVNFFIQS | CGCKGIVTPE | MFKKMSNSEI | IQHLTEQFNE | DSGDYPLIAP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPSWKKFQGS | FCEFVRTLVC | QCQYSLLYDG | FPMDDLISLL | TGLSDSQVRA | FRHTSTLAAM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLMTSLVKVA | LQLSVHQDNN | QRQYEAERNK | GPGQRAPERL | ESLLEKRKEL | QEHQEEIEGM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MNALFRGVFV | HRYRDVLPEI | RAICIEEIGC | WMQSYSTSFL | TDSYLKYIGW | TLHDKHREVR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LKCVKALKGL | YGNRDLTTRL | ELFTSRFKDR | MVSMVMDREY | DVAVEAVRLL | ILILKNMEGV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LTDADCESVY | PVVYASHRGL | ASAAGEFLYW | KLFYPECEIR | MMGGREQRQS | PGAQRTFFQL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LLSFFVESEL | HDHAAYLVDS | LWDCAGARLK | DWEGLTSLLL | EKDQNLGDVQ | ESTLIEILVS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SARQASEGHP | PVGRVTGRKG | LTSKERKTQA | DDRVKLTEHL | IPLLPQLLAK | FSADAEKVTP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLQLLSCFDL | HIYCTGRLEK | HLELFLQQLQ | EVVVKHAEPA | VLEAGAHALY | LLCNPEFTFF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SRADFARSQL | VDLLTDRFQQ | ELEELLQSSF | LDEDEVYNLA | ATLKRLSAFY | NTHDLTRWEL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YEPCCQLLQK | AVDTGEVPHQ | VILPALTLVY | FSILWTLTHI | SKSDASQKQL | SSLRDRMVAF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CELCQSCLSD | VDTEIQEQAF | VLLSDLLLIF | SPQMIVGGRD | FLRPLVFFPE | ATLQSELASF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LMDHVFIQPG | DLGSGDSQED | HLQIERLHQR | RRLLAGFCKL | LLYGVLEMDA | ASDVFKHYNK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FYNDYGDIIK | ETLTRARQID | RSHCSRILLL | SLKQLYTELL | QEHGPQGLNE | LPAFIEMRDL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ARRFALSFGP | QQLQNRDLVV | MLHKEGIQFS | LSELPPAGSS | NQPPNLAFLE | LLSEFSPRLF |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| HQDKQLLLSY | LEKCLQHVSQ | APGHPWGPVT | TYCHSLSPVE | NTAETSPQVL | PSSKRRRVEG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PAKPNREDVS | SSQEESLQLN | SIPPTPTLTS | TAVKSRQPLW | GLKEMEEEDG | SELDFAQGQP |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VAGTERSRFL | GPQYFQTPHN | PSGPGLGNQL | MRLSLMEEDE | EEELEIQDES | NEERQDTDMQ |
| 1210 | 1220 | ||||
| ASSYSSTSER | GLDLLDSTEL | DIEDF |