P42229
Gene name |
STAT5A (STAT5) |
Protein name |
Signal transducer and activator of transcription 5A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6776 |
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
471 variants for P42229
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1598364148 RCV000984687 CA399572935 |
427 | A>T | Esophageal atresia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399565249 rs1598352590 |
5 | I>V | No |
ClinGen Ensembl |
|
|
CA399565300 rs1343278803 |
6 | Q>H | No |
ClinGen gnomAD |
|
|
CA399565290 rs1598352596 |
6 | Q>P | No |
ClinGen Ensembl |
|
|
CA290745964 rs912872879 |
7 | A>V | No |
ClinGen TOPMed |
|
|
rs763790317 CA8574402 |
9 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377341826 CA8574401 |
9 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757017517 CA8574404 |
13 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8574403 rs751300372 |
13 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574405 rs780375123 |
14 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs574731999 CA8574406 |
15 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8574407 rs755081667 |
17 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779187594 CA8574408 |
18 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1598352641 CA399565650 |
20 | V>G | No |
ClinGen Ensembl |
|
|
rs370309676 CA290746023 |
22 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995198459 CA290746031 |
23 | G>D | No |
ClinGen Ensembl |
|
|
CA8574409 rs748592105 |
23 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1159853062 CA399565784 |
26 | F>L | No |
ClinGen TOPMed |
|
|
CA8574411 rs773602929 |
26 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA399565860 rs1401556871 |
29 | E>A | No |
ClinGen gnomAD |
|
|
rs1394549901 CA399565871 |
30 | V>I | No |
ClinGen gnomAD |
|
|
rs1297988744 CA399566763 |
32 | H>Y | No |
ClinGen gnomAD |
|
|
rs776231100 CA399566790 |
34 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399566821 rs201372597 |
36 | Q>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA290746037 rs201372597 |
36 | Q>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201372597 CA399566819 |
36 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1481988515 CA399566866 |
39 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA290746039 rs1027517302 |
40 | S>I | No |
ClinGen Ensembl |
|
|
CA399566892 rs1454587421 |
41 | Q>R | No |
ClinGen TOPMed |
|
|
rs1206590904 CA399566904 |
42 | P>S | No |
ClinGen gnomAD |
|
|
CA399566978 rs1456955120 |
44 | D>Y | No |
ClinGen gnomAD |
|
|
rs747506663 CA8574430 |
45 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771259226 CA8574431 |
46 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397225507 CA399566999 |
46 | I>V | No |
ClinGen gnomAD |
|
|
CA290746167 rs375131176 |
47 | D>E | No |
ClinGen ESP TOPMed |
|
|
CA399567040 rs1038776314 |
48 | L>F | No |
ClinGen gnomAD |
|
|
rs1392651260 CA399567049 |
49 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1434226137 CA399567073 |
50 | N>S | No |
ClinGen gnomAD |
|
|
rs745515755 CA8574433 |
51 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399567114 rs1274649105 |
53 | D>E | No |
ClinGen gnomAD |
|
|
rs531137218 CA290746177 |
54 | R>T | No |
ClinGen 1000Genomes |
|
|
rs1220468054 CA399567166 |
57 | A>P | No |
ClinGen gnomAD |
|
|
rs1263640136 CA399567225 |
59 | Q>P | No |
ClinGen gnomAD |
|
|
CA399567289 rs1227416963 |
62 | E>V | No |
ClinGen TOPMed |
|
|
rs1182781194 CA399567308 |
63 | G>D | No |
ClinGen gnomAD |
|
|
CA8574434 rs769367905 |
67 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8574435 rs769367905 |
67 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1406350203 CA399567501 |
72 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399567530 rs1348479825 |
74 | H>Y | No |
ClinGen gnomAD |
|
|
CA399567599 rs761894019 |
76 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761894019 CA8574439 |
76 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399567631 rs1393325474 |
78 | E>K | No |
ClinGen TOPMed |
|
|
rs750315427 CA8574441 |
79 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574442 rs760554653 |
84 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA399567866 rs1379388842 |
88 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs758471182 CA8574445 |
91 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574446 rs777761052 |
92 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399567960 rs777761052 |
92 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574448 rs757825498 |
94 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239454341 CA399568003 |
94 | L>P | No |
ClinGen gnomAD |
|
|
rs756146419 CA8574465 |
97 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435572811 CA399568352 |
99 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs564512258 CA8574466 |
100 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 100 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399568365 rs1250537354 |
100 | R>H | No |
ClinGen gnomAD |
|
|
CA8574467 rs767962855 |
103 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1362732050 CA399568422 |
103 | L>V | No |
ClinGen gnomAD |
|
|
rs1345820694 CA399568464 |
106 | V>F | No |
ClinGen gnomAD |
|
|
CA399568468 rs1345820694 |
106 | V>I | No |
ClinGen gnomAD |
|
|
rs1218653273 CA399568477 |
107 | R>C | No |
ClinGen gnomAD |
|
|
CA8574468 COSM1383350 rs575765283 |
107 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs202112433 CA290747176 |
110 | R>Q | No |
ClinGen 1000Genomes |
|
|
rs1331420896 CA399568518 |
110 | R>W | No |
ClinGen gnomAD |
|
|
rs1466765940 CA399568534 |
111 | H>L | No |
ClinGen TOPMed |
|
|
rs149721767 CA8574469 |
114 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399568624 rs1567686983 |
116 | E>D | No |
ClinGen Ensembl |
|
|
rs748960746 CA8574471 |
120 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA399568690 rs1192556801 |
121 | R>G | No |
ClinGen TOPMed |
|
|
CA8574472 rs754656931 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011496377 CA399568763 |
124 | N>K | No |
ClinGen TOPMed |
|
|
CA399568756 rs1413504847 |
124 | N>S | No |
ClinGen gnomAD |
|
|
CA399568772 rs1457480358 |
125 | N>D | No |
ClinGen gnomAD |
|
|
rs746195629 CA8574495 |
126 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1483098670 CA399569651 |
126 | C>Y | No |
ClinGen gnomAD |
|
|
CA8574498 rs769660748 |
129 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170425734 CA399569681 |
131 | G>E | No |
ClinGen gnomAD |
|
|
rs762072134 CA8574500 |
131 | G>W | No |
ClinGen ExAC |
|
|
CA8574504 rs766742717 |
136 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754394984 CA8574505 |
137 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1439727336 CA399569728 |
138 | S>F | No |
ClinGen gnomAD |
|
|
rs1300544861 CA399569731 |
139 | Q>* | No |
ClinGen gnomAD |
|
|
rs1053522991 CA290749083 |
140 | K>N | No |
ClinGen Ensembl |
|
|
rs759784178 CA8574506 |
141 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759784178 CA290749091 |
141 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300485301 CA399569767 |
144 | I>N | No |
ClinGen gnomAD |
|
|
CA8574509 rs145589652 |
148 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290749116 rs942922192 |
149 | E>G | No |
ClinGen TOPMed |
|
|
CA399569801 rs1483942222 |
149 | E>Q | No |
ClinGen gnomAD |
|
|
rs1281822642 CA399569807 |
150 | E>K | No |
ClinGen TOPMed |
|
|
CA8574510 rs141415687 |
152 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750973999 CA8574511 |
154 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8574512 COSM706314 rs756814024 |
155 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368267339 CA399569834 |
155 | T>P | No |
ClinGen TOPMed |
|
|
rs1448837748 CA399569843 |
156 | Q>R | No |
ClinGen gnomAD |
|
|
rs572323915 CA8574514 |
159 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145314397 CA290749126 |
160 | N>I | No |
ClinGen ESP |
|
|
CA8574516 rs147867237 |
161 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399569875 rs1366673239 |
161 | E>K | No |
ClinGen TOPMed |
|
|
rs769454500 CA8574515 |
161 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173383835 CA399569892 COSM979458 |
163 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1450941531 CA399569946 |
171 | Y>H | No |
ClinGen gnomAD |
|
|
CA8574518 rs772217852 |
173 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8574519 rs773438507 |
178 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA399570008 rs1233252277 |
179 | S>N | No |
ClinGen gnomAD |
|
|
rs771078037 CA8574521 |
181 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA399570025 rs1321035996 |
182 | I>V | No |
ClinGen gnomAD |
|
|
CA399570037 rs1452662057 |
183 | Q>H | No |
ClinGen TOPMed |
|
|
CA399571362 rs1157440560 |
184 | A>V | No |
ClinGen gnomAD |
|
|
rs141565869 CA8574548 |
187 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141565869 CA399571416 |
187 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576311406 CA8574549 |
188 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1269050625 CA399571466 |
190 | A>V | No |
ClinGen TOPMed |
|
|
rs759535072 CA290751539 |
191 | Q>H | No |
ClinGen Ensembl |
|
|
CA290751544 rs950380490 |
193 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1598360082 CA399571505 |
193 | S>R | No |
ClinGen Ensembl |
|
|
CA399571521 rs1314655783 |
194 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8574551 rs200134221 |
194 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399571517 rs1314655783 |
194 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1220818628 CA399571533 |
195 | Q>* | No |
ClinGen gnomAD |
|
|
CA399571537 rs1289432511 |
195 | Q>R | No |
ClinGen gnomAD |
|
|
rs1598360102 CA399571553 |
196 | E>A | No |
ClinGen Ensembl |
|
|
rs1231666878 CA399571568 |
197 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8574552 rs766259233 |
197 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766259233 CA8574553 |
197 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574555 rs371007974 |
200 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480453414 CA399571595 |
200 | R>W | No |
ClinGen gnomAD |
|
|
rs374346157 CA8574557 |
202 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747188957 CA8574556 |
202 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1404345784 CA399571614 |
203 | A>V | No |
ClinGen TOPMed |
|
|
rs745891584 CA8574559 |
204 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1308159770 CA399571624 |
205 | Q>P | No |
ClinGen gnomAD |
|
|
CA8574560 rs369438268 |
207 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8574561 rs776108843 |
207 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs2230123 CA8574563 RCV000967453 |
209 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA290751593 rs2230123 |
209 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2230123 CA290751599 |
209 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8574562 rs367568442 |
209 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1227462811 CA399571664 |
212 | E>K | No |
ClinGen gnomAD |
|
|
CA8574564 rs774846322 |
213 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767141937 CA8574566 |
217 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8574567 rs527783523 |
217 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542759072 CA8574570 |
226 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542759072 CA8574571 |
226 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8574572 rs765087246 |
226 | R>H | Variant assessed as Somatic; 0.0005762 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765087246 CA8574573 |
226 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs758149061 CA8574574 |
227 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574590 rs765171270 |
231 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990723381 CA290751780 |
241 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399571869 rs1598360375 |
241 | R>W | No |
ClinGen Ensembl |
|
|
rs1276725885 CA399571922 |
249 | D>H | No |
ClinGen gnomAD |
|
|
CA399571932 rs1368387559 |
250 | D>V | No |
ClinGen gnomAD |
|
|
CA399571937 rs1205339449 |
251 | E>K | No |
ClinGen TOPMed |
|
|
rs1437357154 CA399571961 |
254 | Q>R | No |
ClinGen TOPMed |
|
|
rs1209707048 CA399571984 |
257 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399571983 rs1331665794 |
257 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1314110489 CA399571989 |
258 | R>Q | No |
ClinGen TOPMed |
|
|
rs1284206697 CA399571988 |
258 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1352317038 CA399572019 |
263 | G>R | No |
ClinGen TOPMed |
|
|
rs763843816 CA8574593 |
267 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763843816 CA399572047 |
267 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA399572053 rs1472811031 |
268 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399572058 rs1217951206 |
269 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399572073 rs1407076899 |
271 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1324110606 CA399572074 |
271 | S>N | No |
ClinGen gnomAD |
|
|
rs1366284221 CA399572084 |
273 | D>N | No |
ClinGen gnomAD |
|
|
rs750660966 CA399572093 |
274 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574594 rs750660966 |
274 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399572106 rs1279376982 |
276 | Q>R | No |
ClinGen gnomAD |
|
|
CA8574613 rs766661960 |
284 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399572174 rs1416364034 COSM979459 |
284 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8574615 rs536235533 |
290 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536235533 CA8574616 |
290 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754146749 CA8574614 |
290 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574617 rs753238236 |
293 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8574618 rs758760565 |
294 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778262335 CA8574619 |
294 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399572451 rs778262335 |
294 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290751993 rs919902354 |
295 | R>S | No |
ClinGen TOPMed |
|
|
CA8574620 rs747321897 |
298 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399572569 rs1279722258 |
299 | L>F | No |
ClinGen gnomAD |
|
|
CA399572579 rs1262344113 |
299 | L>P | No |
ClinGen gnomAD |
|
|
CA399572602 rs1190441220 |
300 | C>F | No |
ClinGen gnomAD |
|
|
CA399572594 rs1459769051 |
300 | C>G | No |
ClinGen gnomAD |
|
|
rs1371380050 CA399572702 |
305 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1177404299 CA399572727 |
307 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399572766 rs1598360953 |
308 | P>L | No |
ClinGen Ensembl |
|
|
CA399572811 rs1288171833 |
310 | E>K | No |
ClinGen TOPMed |
|
|
CA8574621 rs757647502 |
311 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs780789743 CA8574622 |
312 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs142232293 CA8574623 |
313 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576124844 CA8574625 |
315 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368204897 CA8574624 |
315 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1598360976 CA399572961 |
316 | V>G | No |
ClinGen Ensembl |
|
|
rs748826189 CA8574626 |
316 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768770625 CA8574627 |
317 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8574630 rs767378397 |
318 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574629 rs761738519 |
318 | A>T | Variant assessed as Somatic; 4.769e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767378397 CA8574631 |
318 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1261073234 CA399573019 |
321 | T>M | No |
ClinGen gnomAD |
|
|
rs1203314995 CA399573046 |
323 | I>V | No |
ClinGen gnomAD |
|
|
CA8574633 rs765359444 |
328 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399573319 rs1363166765 |
331 | T>I | No |
ClinGen gnomAD |
|
|
rs757694677 CA8574658 |
331 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757694677 CA399573311 |
331 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574661 rs756477925 |
334 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399573369 rs1227680774 |
334 | I>T | No |
ClinGen TOPMed |
|
|
CA8574662 rs779610995 |
337 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs753487488 CA8574663 |
340 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360131632 CA399573528 |
344 | T>I | No |
ClinGen gnomAD |
|
|
CA399573546 rs1291214433 |
346 | T>N | No |
ClinGen gnomAD |
|
|
rs754555362 CA8574664 |
346 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA399573574 rs1357354740 |
349 | A>T | No |
ClinGen gnomAD |
|
|
rs778505142 CA8574665 |
349 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777748961 COSM1383353 CA8574668 |
352 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs369452991 CA8574670 |
353 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1563832 CA8574671 rs372745237 |
353 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8574672 rs763105048 |
357 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1434706212 CA399573669 |
358 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399573707 rs1567691210 |
360 | L>P | No |
ClinGen Ensembl |
|
|
CA399573744 rs1304411117 |
362 | V>A | No |
ClinGen gnomAD |
|
|
rs761867798 CA8574676 |
362 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761867798 CA8574675 |
362 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194389509 CA399573762 |
363 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1451895133 CA399573800 |
364 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1383250187 CA399573775 |
364 | M>V | No |
ClinGen gnomAD |
|
|
CA8574680 rs750909459 |
366 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766714643 CA8574682 |
367 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8574683 rs753551295 |
369 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1307177657 CA399573862 |
370 | K>R | No |
ClinGen gnomAD |
|
|
rs1479482140 CA399573908 |
373 | I>V | No |
ClinGen Ensembl |
|
|
CA399573953 rs1242466165 |
375 | S>N | No |
ClinGen TOPMed |
|
|
CA399574110 rs1476119431 |
384 | K>E | No |
ClinGen gnomAD |
|
|
rs199711508 CA290752289 |
386 | E>G | No |
ClinGen 1000Genomes |
|
|
CA399574152 rs1186642966 |
386 | E>K | No |
ClinGen gnomAD |
|
|
CA8574686 rs752308916 |
387 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA399574188 rs1298789302 |
388 | T>A | No |
ClinGen TOPMed |
|
|
CA290752295 rs866679330 |
389 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
VAR_052073 CA8574687 rs2230134 |
389 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8574688 rs2230134 |
389 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs757871229 | 390 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399574225 rs1598361557 |
390 | N>H | No |
ClinGen Ensembl |
|
|
rs763602853 CA8574708 |
391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751458115 CA8574709 |
399 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 402 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142128597 CA290720164 |
403 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1195366097 CA399572427 |
403 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 405 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 406 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8574712 rs745711904 |
408 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8574713 rs143067673 |
409 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772056413 CA8574716 |
411 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574715 rs748317864 |
411 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426444776 CA399572620 |
413 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8574719 CA8574718 rs747051071 |
416 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA399572714 rs1286830073 |
417 | R>K | No |
ClinGen TOPMed |
|
|
CA399572740 rs1567692631 |
418 | N>S | No |
ClinGen Ensembl |
|
|
rs113341557 CA290720263 |
421 | L>P | No |
ClinGen Ensembl |
|
|
CA8574742 rs763214446 |
423 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA290720269 rs936716601 |
426 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 427 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8574743 rs768405412 |
429 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs988135840 CA290720272 |
429 | R>W | No |
ClinGen TOPMed |
|
|
CA399572965 rs1242408805 |
430 | R>Q | No |
ClinGen gnomAD |
|
|
rs1204224434 CA399572963 |
430 | R>W | No |
ClinGen gnomAD |
|
|
CA8574744 rs773844030 |
431 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA290720300 rs933596432 |
435 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 440 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475897965 CA399573120 |
440 | F>V | No |
ClinGen gnomAD |
|
|
rs760537067 CA8574748 |
441 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1163992121 CA399573146 |
441 | T>I | No |
ClinGen gnomAD |
|
|
CA399573188 rs1171629103 |
444 | F>V | No |
ClinGen TOPMed |
|
|
CA8574751 rs754704026 |
454 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399573430 rs1419518818 |
458 | Q>E | No |
ClinGen TOPMed |
|
|
CA8574772 rs751813910 |
463 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757623363 CA8574773 |
465 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA399573798 rs1241569041 |
469 | I>L | No |
ClinGen TOPMed |
|
|
CA399573815 rs1351526729 |
470 | V>I | No |
ClinGen gnomAD |
|
|
CA399573843 rs1307657759 |
472 | G>S | No |
ClinGen TOPMed |
|
|
rs1261086956 CA399573878 |
473 | S>N | No |
ClinGen gnomAD |
|
|
CA290720814 rs893730531 |
479 | T>M | No |
ClinGen Ensembl |
|
|
rs1268638276 CA399574133 |
486 | N>S | No |
ClinGen gnomAD |
|
|
rs370492942 CA290720835 |
491 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370492942 CA8574777 |
491 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770483390 CA8574806 |
498 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399574338 rs1567693543 |
498 | V>L | No |
ClinGen Ensembl |
|
|
CA399574341 rs1320186166 |
499 | P>T | No |
ClinGen gnomAD |
|
|
CA290721149 rs757085900 |
505 | P>L | No |
ClinGen gnomAD |
|
|
CA399574415 rs1465572170 COSM3819620 |
505 | P>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1567693569 CA399574422 |
506 | Q>E | No |
ClinGen Ensembl |
|
|
rs1457544257 CA399574438 |
507 | L>Q | No |
ClinGen gnomAD |
|
|
CA8574808 rs532878442 |
509 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540666908 CA8574809 |
510 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775536794 CA8574810 |
510 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574812 rs763931368 |
511 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773581830 CA8574813 |
513 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA399574505 rs1311437002 |
513 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399574547 rs1256728534 |
516 | K>T | No |
ClinGen TOPMed |
|
|
CA8574815 rs766618425 |
518 | E>K | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA399574599 rs1463833189 |
520 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs559393296 COSM472812 CA8574816 |
522 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs765699656 CA8574818 |
523 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399574632 rs1397391541 |
523 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8574822 rs747374645 |
526 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277934426 CA399574683 |
528 | E>K | No |
ClinGen TOPMed |
|
|
CA399574706 rs1598365757 |
529 | N>T | No |
ClinGen Ensembl |
|
|
rs745410561 CA8574825 |
531 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313035517 CA399574763 |
534 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201822478 CA8574827 |
539 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749177790 CA8574828 |
543 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1567693684 CA399574891 |
544 | H>R | No |
ClinGen Ensembl |
|
|
CA8574829 rs768574177 |
544 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774354650 CA8574830 |
547 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930357979 CA290721273 |
549 | S>G | No |
ClinGen TOPMed |
|
|
rs1413897155 CA399574959 |
549 | S>N | No |
ClinGen gnomAD |
|
|
CA290721274 rs930749798 |
550 | G>C | No |
ClinGen Ensembl |
|
|
CA8574831 rs761653964 |
550 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399574986 rs1432916053 COSM3819622 |
553 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA399574997 rs1289500203 |
554 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 555 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8574834 rs759563651 |
560 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA399575105 rs1234388293 |
562 | N>D | No |
ClinGen gnomAD |
|
|
rs775608800 CA8574853 |
564 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399575141 rs1437867099 |
565 | G>D | No |
ClinGen gnomAD |
|
|
rs764625941 CA8574855 |
569 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA8574858 rs554580817 |
570 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8574857 rs762109838 |
570 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA290721750 rs200186355 |
572 | Q>* | No |
ClinGen Ensembl |
|
|
rs1356630133 CA399575191 |
572 | Q>R | No |
ClinGen gnomAD |
|
|
rs750047248 CA8574859 |
576 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA399575230 rs1340409838 |
577 | V>A | No |
ClinGen TOPMed |
|
|
rs1340409838 CA399575231 |
577 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 577 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 578 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149159731 CA290721765 |
578 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399575252 rs1598366783 |
580 | V>G | No |
ClinGen Ensembl |
|
|
rs1598366780 CA399575248 |
580 | V>L | No |
ClinGen Ensembl |
|
|
rs1008319751 CA290721784 |
585 | H>D | No |
ClinGen TOPMed |
|
|
rs1313491113 CA399575308 |
588 | H>Y | No |
ClinGen TOPMed |
|
|
CA8574864 rs754502479 |
591 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA399575363 rs1598366948 |
594 | I>V | No |
ClinGen Ensembl |
|
|
CA399575390 rs1421917063 |
598 | V>L | No |
ClinGen gnomAD |
|
|
CA290721927 rs947670001 |
605 | D>E | No |
ClinGen TOPMed |
|
|
CA8574898 rs776433599 |
605 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759189698 CA8574899 |
608 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1325348468 CA399575470 |
609 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1276136467 CA399575467 |
609 | N>S | No |
ClinGen gnomAD |
|
|
rs1233888280 CA399575484 |
611 | P>L | No |
ClinGen gnomAD |
|
|
rs1344427649 CA399575487 |
612 | D>Y | No |
ClinGen gnomAD |
|
|
rs1286424849 CA399575493 |
613 | G>R | No |
ClinGen gnomAD |
|
|
rs981674796 CA290721952 |
616 | L>F | No |
ClinGen TOPMed |
|
|
CA8574906 rs780900178 |
618 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs755284379 CA8574908 |
624 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8574910 rs748298777 |
625 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427807254 CA399575590 |
627 | I>T | No |
ClinGen gnomAD |
|
| rs777929785 | 636 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8574928 rs758514352 |
636 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8574912 rs140676473 COSM1227816 |
636 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs747078154 CA8574930 |
638 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574931 rs771618032 |
640 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574932 rs781756513 |
645 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1457694572 CA399576087 |
647 | T>I | No |
ClinGen gnomAD |
|
|
rs746268770 CA8574933 |
648 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768352237 CA8574937 |
652 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs138484872 CA290722210 |
659 | R>Q | No |
ClinGen ESP TOPMed |
|
|
rs1331759850 CA399576159 |
659 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1598367606 CA399576177 |
662 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 662 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965085343 CA290722222 |
667 | I>L | No |
ClinGen TOPMed |
|
|
rs1229109558 CA399576220 |
668 | Y>* | No |
ClinGen gnomAD |
|
|
rs1381360419 CA399576218 |
668 | Y>C | No |
ClinGen gnomAD |
|
|
rs1312231711 CA399576222 |
669 | V>M | No |
ClinGen gnomAD |
|
|
CA399576241 rs1266628382 |
671 | P>L | No |
ClinGen TOPMed |
|
|
CA399576253 COSM1227817 rs1220900989 |
673 | R>H | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750321108 CA8574941 |
674 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760537590 CA8574942 |
676 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8574943 rs766026826 |
683 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA290722229 rs372677304 |
687 | L>R | No |
ClinGen ESP TOPMed |
|
|
CA8574944 rs752966031 |
688 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574977 rs778121170 |
690 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 698 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290722688 rs147521401 |
700 | K>R | No |
ClinGen Ensembl |
|
|
rs1460597702 CA399576458 |
702 | V>L | No |
ClinGen gnomAD |
|
|
rs759275556 CA8574979 |
703 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574999 rs769850987 |
707 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399576511 rs769850987 |
707 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8575001 rs762820560 |
709 | A>T | No |
ClinGen ExAC |
|
| TCGA novel | 710 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8575003 rs772226127 |
712 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1285746050 CA399576586 |
713 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 713 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390078501 CA399576597 |
714 | G>A | No |
ClinGen TOPMed |
|
|
CA399576599 rs1403138936 |
715 | G>S | No |
ClinGen gnomAD |
|
|
CA399576628 rs1448164907 |
717 | S>N | No |
ClinGen gnomAD |
|
|
CA8575006 rs200025445 |
718 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8575007 rs568644507 |
719 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753107760 CA8575010 |
721 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1259743830 CA399576741 |
727 | P>A | No |
ClinGen gnomAD |
|
|
CA399576743 rs1259743830 |
727 | P>S | No |
ClinGen gnomAD |
|
|
CA399576750 rs1318588874 |
728 | A>T | No |
ClinGen gnomAD |
|
|
rs1197869135 CA399576758 |
728 | A>V | No |
ClinGen gnomAD |
|
|
rs773174845 CA8575012 |
730 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 732 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756725119 CA8575015 |
733 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756725119 CA8575014 |
733 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399576835 rs1163310172 |
734 | P>H | No |
ClinGen gnomAD |
|
|
rs745362393 CA8575016 |
734 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8575017 rs529491430 |
737 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1298580306 CA399577691 |
743 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399577739 rs1233865390 |
744 | H>Q | No |
ClinGen gnomAD |
|
|
CA399577748 rs1409077573 |
745 | V>L | No |
ClinGen Ensembl |
|
|
CA399577804 rs749996722 |
747 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749996722 CA8575035 |
747 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1173797469 CA399577826 |
748 | Q>E | No |
ClinGen Ensembl |
|
|
CA290723477 rs199677936 |
752 | F>V | No |
ClinGen gnomAD |
|
|
CA290723486 rs891508249 |
753 | D>E | No |
ClinGen TOPMed |
|
|
rs780160492 CA399577934 |
753 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780160492 CA8575037 |
753 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567020134 CA8575038 |
757 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778831312 CA8575040 |
761 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778831312 CA8575041 |
761 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1009941223 CA290723519 |
762 | R>G | No |
ClinGen Ensembl |
|
|
rs1029737475 CA399578082 |
764 | V>L | No |
ClinGen gnomAD |
|
|
rs1029737475 CA290723529 |
764 | V>M | No |
ClinGen gnomAD |
|
|
CA290723530 rs985360712 |
766 | E>D | No |
ClinGen gnomAD |
|
|
CA8575043 rs776801677 |
766 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1018174304 CA290723536 |
768 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1266907 CA399578132 rs1387284839 |
769 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA399578131 rs1387284839 |
769 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8575044 rs745972463 |
769 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs745972463 CA8575045 |
769 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs149261935 CA8575046 |
770 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8575047 rs763584326 |
772 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264901339 CA399578151 |
772 | M>V | No |
ClinGen TOPMed |
|
|
rs1007564759 CA290723570 |
774 | S>G | No |
ClinGen TOPMed |
|
|
rs1218057565 CA399578181 |
774 | S>N | No |
ClinGen gnomAD |
|
|
rs1249071270 CA399578193 |
775 | L>F | No |
ClinGen TOPMed |
|
|
CA399578203 rs764500316 |
776 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8575048 rs764500316 |
776 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA290723576 rs1001618444 |
777 | S>P | No |
ClinGen Ensembl |
|
|
CA8575049 rs774831875 |
778 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762056710 CA8575050 |
778 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147384091 CA8575051 |
780 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180047828 CA399578253 |
782 | P>L | No |
ClinGen gnomAD |
|
|
CA8575053 rs755696784 |
782 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201999384 CA290723628 |
783 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1441088020 CA399578263 |
783 | A>V | No |
ClinGen gnomAD |
|
|
rs139614126 CA8575057 |
784 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8575056 rs139614126 |
784 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs930043096 CA399578325 |
789 | A>D | No |
ClinGen gnomAD |
|
|
rs930043096 CA290723633 |
789 | A>V | No |
ClinGen gnomAD |
|
|
CA399578329 rs1319658760 |
790 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 790 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399578347 rs1458262882 |
791 | G>D | No |
ClinGen gnomAD |
|
|
rs758087729 CA8575060 |
792 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758087729 CA8575059 |
792 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs746025610 CA8575061 |
794 | S>P | No |
ClinGen ExAC gnomAD |
No associated diseases with P42229
No regional properties for P42229
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P42229 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| growth hormone receptor signaling pathway via JAK-STAT | The process in which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of physiological ligands to the growth hormone receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes. |
| lactation | The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. |
| positive regulation of blood vessel endothelial cell migration | Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels. |
| positive regulation of endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| reelin-mediated signaling pathway | The series of molecular signals initiated by the binding of reelin (a secreted glycoprotein) to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of multicellular organism growth | Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to peptide hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| taurine metabolic process | The chemical reactions and pathways involving taurine (2-aminoethanesulfonic acid), a sulphur-containing amino acid derivative important in the metabolism of fats. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P61635 | STAT3 | Signal transducer and activator of transcription 3 | Bos taurus (Bovine) | PR |
| Q6DV79 | STAT3 | Signal transducer and activator of transcription 3 | Gallus gallus (Chicken) | PR |
| P52630 | STAT2 | Signal transducer and activator of transcription 2 | Homo sapiens (Human) | PR |
| P40763 | STAT3 | Signal transducer and activator of transcription 3 | Homo sapiens (Human) | PR |
| P42224 | STAT1 | Signal transducer and activator of transcription 1-alpha/beta | Homo sapiens (Human) | PR |
| Q14765 | STAT4 | Signal transducer and activator of transcription 4 | Homo sapiens (Human) | PR |
| P51692 | STAT5B | Signal transducer and activator of transcription 5B | Homo sapiens (Human) | PR |
| P42228 | Stat4 | Signal transducer and activator of transcription 4 | Mus musculus (Mouse) | PR |
| P42225 | Stat1 | Signal transducer and activator of transcription 1 | Mus musculus (Mouse) | PR |
| Q9WVL2 | Stat2 | Signal transducer and activator of transcription 2 | Mus musculus (Mouse) | PR |
| P42227 | Stat3 | Signal transducer and activator of transcription 3 | Mus musculus (Mouse) | PR |
| P42230 | Stat5a | Signal transducer and activator of transcription 5A | Mus musculus (Mouse) | PR |
| Q19S50 | STAT3 | Signal transducer and activator of transcription 3 | Sus scrofa (Pig) | PR |
| P52631 | Stat3 | Signal transducer and activator of transcription 3 | Rattus norvegicus (Rat) | PR |
| Q9NAD6 | sta-1 | Signal transducer and activator of transcription 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGWIQAQQL | QGDALRQMQV | LYGQHFPIEV | RHYLAQWIES | QPWDAIDLDN | PQDRAQATQL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LEGLVQELQK | KAEHQVGEDG | FLLKIKLGHY | ATQLQKTYDR | CPLELVRCIR | HILYNEQRLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REANNCSSPA | GILVDAMSQK | HLQINQTFEE | LRLVTQDTEN | ELKKLQQTQE | YFIIQYQESL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RIQAQFAQLA | QLSPQERLSR | ETALQQKQVS | LEAWLQREAQ | TLQQYRVELA | EKHQKTLQLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RKQQTIILDD | ELIQWKRRQQ | LAGNGGPPEG | SLDVLQSWCE | KLAEIIWQNR | QQIRRAEHLC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQLPIPGPVE | EMLAEVNATI | TDIISALVTS | TFIIEKQPPQ | VLKTQTKFAA | TVRLLVGGKL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NVHMNPPQVK | ATIISEQQAK | SLLKNENTRN | ECSGEILNNC | CVMEYHQATG | TLSAHFRNMS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKRIKRADRR | GAESVTEEKF | TVLFESQFSV | GSNELVFQVK | TLSLPVVVIV | HGSQDHNATA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TVLWDNAFAE | PGRVPFAVPD | KVLWPQLCEA | LNMKFKAEVQ | SNRGLTKENL | VFLAQKLFNN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSSHLEDYSG | LSVSWSQFNR | ENLPGWNYTF | WQWFDGVMEV | LKKHHKPHWN | DGAILGFVNK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QQAHDLLINK | PDGTFLLRFS | DSEIGGITIA | WKFDSPERNL | WNLKPFTTRD | FSIRSLADRL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GDLSYLIYVF | PDRPKDEVFS | KYYTPVLAKA | VDGYVKPQIK | QVVPEFVNAS | ADAGGSSATY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MDQAPSPAVC | PQAPYNMYPQ | NPDHVLDQDG | EFDLDETMDV | ARHVEELLRR | PMDSLDSRLS |
| 790 | |||||
| PPAGLFTSAR | GSLS |