P32519
Gene name |
ELF1 |
Protein name |
ETS-related transcription factor Elf-1 |
Names |
E74-like factor 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1997 |
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

2 structures for P32519
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
8BZM | X-ray | 269 A | B/H | 206-294 | PDB |
AF-P32519-F1 | Predicted | AlphaFoldDB |
457 variants for P32519
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs200429572 CA6960439 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
rs374182057 CA248391896 |
4 | V>A | No |
ClinGen ESP TOPMed |
|
rs748231439 CA6960438 |
4 | V>L | No |
ClinGen ExAC |
|
rs756035191 CA6960436 |
5 | V>A | No |
ClinGen ExAC gnomAD |
|
CA6960434 rs767257215 |
6 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs757063129 CA6960433 |
6 | Q>P | No |
ClinGen ExAC |
|
rs763768134 CA6960431 |
9 | D>N | No |
ClinGen ExAC gnomAD |
|
CA248391859 rs188926643 |
11 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
CA6960430 rs186580740 |
12 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387923383 rs1456096696 |
13 | E>A | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 13 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6960429 rs752238485 |
14 | F>L | No |
ClinGen ExAC gnomAD |
|
rs760051911 CA6960427 |
18 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA387923322 rs1323760946 |
19 | M>T | No |
ClinGen TOPMed |
|
rs1442289656 CA387923294 |
21 | D>G | No |
ClinGen gnomAD |
|
CA248391842 rs1041620375 |
21 | D>H | No |
ClinGen TOPMed |
|
CA248391844 rs1041620375 |
21 | D>N | No |
ClinGen TOPMed |
|
CA387923271 rs1205927640 |
23 | R>* | No |
ClinGen gnomAD |
|
rs1327553855 CA387923267 |
23 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6960414 rs757178730 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1247860558 CA387921358 |
27 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA6960413 rs751363895 |
27 | D>H | No |
ClinGen ExAC gnomAD |
|
CA6960410 rs752295265 |
28 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs144442221 CA6960412 |
28 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs144442221 CA6960411 |
28 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759140767 CA6960408 |
29 | A>S | No |
ClinGen ExAC gnomAD |
|
CA6960407 rs753447275 |
30 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387921345 rs753447275 |
30 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 32 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA387921298 rs1250224504 |
37 | E>G | No |
ClinGen TOPMed |
|
rs1202088721 CA387921270 |
41 | G>D | No |
ClinGen TOPMed |
|
CA6960403 rs772338917 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
rs762031797 CA6960402 |
43 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1255389775 CA387921241 |
46 | N>D | No |
ClinGen TOPMed |
|
rs534615740 CA6960401 |
46 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA387921234 rs1194037303 |
47 | S>G | No |
ClinGen TOPMed |
|
CA6960397 rs201253239 |
50 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746934133 CA6960396 |
52 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 55 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs149627137 CA6960394 |
56 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1245183016 CA387921168 |
57 | P>A | No |
ClinGen gnomAD |
|
VAR_048942 CA6960393 rs7799 |
58 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1226290678 CA387921152 |
59 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs528981271 CA6960391 |
60 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs1341288815 CA387921147 |
60 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA6960390 rs35517822 |
61 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387921124 rs1365288494 |
63 | E>A | No |
ClinGen gnomAD |
|
TCGA novel | 63 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368030828 CA248382456 |
67 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
CA387921092 rs1292579048 |
68 | V>I | No |
ClinGen gnomAD |
|
rs1212179560 CA387921083 |
69 | A>V | No |
ClinGen gnomAD |
|
rs1405241615 CA387921068 |
71 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1342806677 CA387921063 |
72 | E>G | No |
ClinGen TOPMed |
|
TCGA novel | 72 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1367068371 CA387921058 |
73 | I>V | No |
ClinGen gnomAD |
|
rs756590327 CA6960388 |
74 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756590327 CA6960389 |
74 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 76 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA387921009 rs1309871245 |
79 | D>V | No |
ClinGen gnomAD |
|
CA6960384 rs774733361 |
81 | I>V | No |
ClinGen ExAC gnomAD |
|
CA387920988 rs1299994946 |
82 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs764292748 CA6960383 |
83 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960382 rs763216206 |
84 | T>I | No |
ClinGen ExAC gnomAD |
|
rs949260327 CA248382433 |
85 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs949260327 CA387920975 |
85 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA387920947 rs1357435872 |
87 | A>D | No |
ClinGen gnomAD |
|
rs1308439306 CA387920942 |
88 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs1308439306 CA387920940 |
88 | S>Y | No |
ClinGen TOPMed gnomAD |
|
rs1393792610 CA387920936 |
89 | C>Y | No |
ClinGen gnomAD |
|
rs1377566722 CA387920931 |
90 | H>N | No |
ClinGen gnomAD |
|
CA6960358 rs748155244 |
92 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs960503567 CA248378726 |
95 | T>I | No |
ClinGen TOPMed |
|
rs1453252651 CA387920884 |
96 | I>M | No |
ClinGen gnomAD |
|
rs143714910 CA6960357 |
96 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6960356 rs768578401 |
97 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs779598668 CA6960354 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
CA387920846 rs1593356484 |
102 | A>G | No |
ClinGen Ensembl |
|
CA387920836 rs1246032154 |
104 | A>T | No |
ClinGen gnomAD |
|
CA387920812 rs1262153028 |
107 | N>K | No |
ClinGen gnomAD |
|
rs1350852775 CA387920814 |
107 | N>S | No |
ClinGen gnomAD |
|
TCGA novel | 111 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780809677 CA6960351 |
112 | G>V | No |
ClinGen ExAC gnomAD |
|
CA6960350 rs371592585 |
113 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs955749417 CA248378614 |
114 | M>T | No |
ClinGen gnomAD |
|
rs752065082 CA6960349 |
114 | M>V | No |
ClinGen ExAC gnomAD |
|
CA6960348 rs778071991 |
116 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs560156235 CA248378611 |
119 | R>* | No |
ClinGen gnomAD |
|
CA6960347 rs373684517 |
119 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1221470578 | 120 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs753156108 CA6960346 |
120 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387920730 rs1368387341 |
120 | I>R | No |
ClinGen TOPMed |
|
CA248378594 rs753156108 |
120 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770457576 CA6960332 |
123 | N>S | No |
ClinGen ExAC gnomAD |
|
CA387920690 rs747465409 |
124 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778229741 CA6960330 |
124 | I>M | No |
ClinGen ExAC gnomAD |
|
rs747465409 CA6960331 |
124 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1224008681 CA387920692 |
124 | I>V | No |
ClinGen gnomAD |
|
CA6960328 rs753000405 |
133 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387920607 rs1231542518 |
136 | P>Q | No |
ClinGen gnomAD |
|
rs1284194102 CA387920577 |
141 | S>P | No |
ClinGen gnomAD |
|
CA6960325 rs149535884 |
142 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387920562 rs1328097073 |
143 | T>I | No |
ClinGen gnomAD |
|
rs1410522553 CA387920550 |
145 | D>G | No |
ClinGen gnomAD |
|
rs1398563263 CA387920536 |
147 | I>S | No |
ClinGen gnomAD |
|
CA387920527 rs1285868905 |
148 | P>L | No |
ClinGen TOPMed |
|
CA387920530 rs1170554406 |
148 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6960324 rs766529280 |
151 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387920490 rs1372512682 |
154 | Q>K | No |
ClinGen gnomAD |
|
rs750583460 CA6960322 |
155 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA6960321 rs764119343 |
156 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 158 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6960318 rs769633777 |
161 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776366937 CA387920430 |
162 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759070371 CA6960317 |
162 | D>N | No |
ClinGen ExAC gnomAD |
|
rs776366937 CA6960316 |
162 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138109960 CA6960315 |
164 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387920419 rs1323341015 |
164 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6960313 rs777331703 |
165 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1038873613 CA248377815 |
166 | A>D | No |
ClinGen TOPMed |
|
rs772555990 CA6960312 |
166 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748703479 CA6960311 |
167 | S>L | No |
ClinGen ExAC gnomAD |
|
CA387920381 rs1406627366 |
171 | Q>E | No |
ClinGen gnomAD |
|
rs1178123485 CA387920374 |
172 | P>T | No |
ClinGen gnomAD |
|
TCGA novel | 173 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6960307 rs780405638 |
174 | R>K | No |
ClinGen ExAC gnomAD |
|
CA387920355 rs1235082709 |
174 | R>S | No |
ClinGen gnomAD |
|
CA387920358 rs780405638 |
174 | R>T | No |
ClinGen ExAC gnomAD |
|
CA6960306 rs756467275 |
175 | K>R | No |
ClinGen ExAC gnomAD |
|
CA6960305 CA387920341 rs750513856 |
176 | K>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 177 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA387920322 rs1448795739 |
178 | R>G | No |
ClinGen gnomAD |
|
rs780618584 CA6960290 |
180 | T>P | No |
ClinGen ExAC gnomAD |
|
CA387920296 rs1593351602 |
181 | K>N | No |
ClinGen Ensembl |
|
CA387920280 rs1360010444 |
184 | R>Q | No |
ClinGen gnomAD |
|
TCGA novel | 186 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6960287 rs79890060 |
187 | S>P | No |
ClinGen ExAC gnomAD |
|
rs757378602 CA6960286 |
188 | P>A | No |
ClinGen ExAC gnomAD |
|
rs112601115 CA248374563 |
189 | A>V | No |
ClinGen Ensembl |
|
CA6960284 rs765189689 |
191 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs765189689 CA6960285 |
191 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1347773101 CA387920236 |
192 | P>T | No |
ClinGen gnomAD |
|
rs766175737 CA6960281 |
194 | I>M | No |
ClinGen ExAC gnomAD |
|
CA6960282 rs753617891 |
194 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA248374555 rs370152165 |
199 | K>R | No |
ClinGen ESP |
|
CA387920184 rs1419320696 |
200 | N>H | No |
ClinGen gnomAD |
|
rs772885144 CA6960279 |
200 | N>K | No |
ClinGen ExAC gnomAD |
|
rs3764056 CA387920163 |
202 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 203 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1391024830 CA387920161 |
203 | G>R | No |
ClinGen gnomAD |
|
CA387920146 rs1221775431 |
205 | G>R | No |
ClinGen gnomAD |
|
CA387920114 rs750270245 |
208 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750270245 CA6960259 |
208 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1233417858 CA387920079 |
212 | E>D | No |
ClinGen gnomAD |
|
rs1321203417 CA387920052 |
216 | A>V | No |
ClinGen gnomAD |
|
rs751019407 CA6960256 |
218 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel CA387920026 rs1409127921 |
220 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
rs763510370 CA6960254 |
222 | A>T | No |
ClinGen ExAC gnomAD |
|
CA387920004 rs1390343566 |
224 | C>G | No |
ClinGen gnomAD |
|
CA6960252 rs770471341 |
232 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA387919938 rs1404452405 |
233 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs759947410 CA6960251 |
233 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1180902156 CA387919921 |
235 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA387919878 rs1470394202 |
241 | V>G | No |
ClinGen gnomAD |
|
CA6960250 rs372184198 |
245 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs932685150 CA248374154 |
248 | R>G | No |
ClinGen Ensembl |
|
rs1593350979 CA387919821 |
250 | W>* | No |
ClinGen Ensembl |
|
CA6960249 rs771170315 |
252 | K>E | No |
ClinGen ExAC gnomAD |
|
CA248374143 rs921230105 |
252 | K>R | No |
ClinGen gnomAD |
|
CA6960248 rs747210277 |
253 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs866478181 CA248374138 |
254 | K>E | No |
ClinGen Ensembl |
|
TCGA novel | 255 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 259 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1232696114 CA387919755 |
259 | M>R | No |
ClinGen TOPMed |
|
CA387919736 rs976836424 |
261 | Y>* | No |
ClinGen gnomAD |
|
CA387919636 rs1342678791 |
274 | R>G | No |
ClinGen gnomAD |
|
CA248372979 rs776730565 |
275 | G>S | No |
ClinGen Ensembl |
|
rs1331781068 CA387919623 |
276 | I>V | No |
ClinGen gnomAD |
|
CA6960225 rs745794216 |
278 | A>T | No |
ClinGen ExAC gnomAD |
|
CA6960224 rs137863135 |
283 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
CA387919571 rs1300069318 |
284 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6960223 rs757021667 |
285 | L>M | No |
ClinGen ExAC gnomAD |
|
CA387919543 rs1164173230 |
288 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 293 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6960221 rs777535025 |
294 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960220 rs143469326 |
296 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1032880556 CA248372893 |
297 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs1196588785 CA387919477 |
297 | I>T | No |
ClinGen gnomAD |
|
rs1281836151 CA387919464 |
299 | I>K | No |
ClinGen TOPMed |
|
CA6960219 rs202087877 |
299 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs760268434 | 300 | N>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 302 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1249909233 CA387919430 |
303 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1359090159 CA387919433 |
303 | D>G | No |
ClinGen gnomAD |
|
CA6960217 rs373079831 |
305 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6960215 rs754334265 |
308 | I>M | No |
ClinGen ExAC gnomAD |
|
rs755476257 CA6960216 |
308 | I>T | No |
ClinGen ExAC gnomAD |
|
rs532698900 CA6960213 |
309 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs532698900 CA6960214 |
309 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA387919379 rs1247475675 |
311 | S>L | No |
ClinGen TOPMed |
|
rs773668917 CA6960212 |
313 | P>A | No |
ClinGen ExAC gnomAD |
|
CA6960211 rs767725443 |
313 | P>R | No |
ClinGen ExAC gnomAD |
|
CA6960209 rs774343467 |
314 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1160683744 CA387919352 |
316 | S>C | No |
ClinGen TOPMed |
|
rs770939173 CA6960205 |
319 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387919332 rs1566165422 |
320 | T>A | No |
ClinGen Ensembl |
|
CA6960204 rs370523749 |
320 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA248372824 rs76461227 |
321 | S>* | No |
ClinGen Ensembl |
|
CA6960203 rs777768092 |
322 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs1200374067 CA387919315 |
323 | R>G | No |
ClinGen gnomAD |
|
rs144532940 CA6960201 |
323 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 324 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754470942 CA6960199 |
324 | N>K | No |
ClinGen ExAC |
|
CA6960200 rs778527444 |
324 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 325 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 325 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1340545303 CA387919292 |
326 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs753438585 CA6960198 |
326 | T>P | No |
ClinGen ExAC gnomAD |
|
CA6960196 rs140646954 |
328 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6960197 rs766771438 |
328 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6960195 rs750744628 |
329 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6960193 rs146850967 |
330 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387919257 rs990847340 |
331 | V>I | No |
ClinGen gnomAD |
|
CA387919255 CA248372754 rs990847340 |
331 | V>L | No |
ClinGen gnomAD |
|
CA609927622 rs1328157578 |
334 | S>* | No |
ClinGen gnomAD |
|
CA387919177 rs1402278543 |
336 | G>E | No |
ClinGen gnomAD |
|
rs774590357 CA6960192 |
337 | V>E | No |
ClinGen ExAC gnomAD |
|
rs373106372 CA6960191 |
338 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 339 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 340 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1468196137 CA387919113 |
340 | G>R | No |
ClinGen gnomAD |
|
CA6960188 rs770770944 |
340 | G>V | No |
ClinGen ExAC gnomAD |
|
CA248372677 rs909031062 |
342 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1056820 CA6960187 |
343 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_048943 rs1056820 CA6960186 |
343 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs571253522 CA248372666 |
347 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA387918994 rs1220352356 |
348 | G>E | No |
ClinGen TOPMed |
|
rs12876270 CA248372665 |
349 | N>K | No |
ClinGen Ensembl |
|
CA387918975 rs1461010809 |
349 | N>S | No |
ClinGen gnomAD |
|
CA6960184 rs35449414 |
350 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA248372664 rs12876618 |
350 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA387918931 rs1184654884 |
352 | A>P | No |
ClinGen TOPMed |
|
CA6960183 rs368881361 |
353 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387918882 rs1566165326 |
355 | P>R | No |
ClinGen Ensembl |
|
CA6960182 rs768401525 |
356 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868591014 CA248372649 |
358 | P>S | No |
ClinGen gnomAD |
|
CA387918847 rs868591014 |
358 | P>T | No |
ClinGen gnomAD |
|
CA6960181 rs182666808 |
361 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA248372618 rs956883787 |
365 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA6960176 rs757590259 |
367 | V>A | No |
ClinGen ExAC gnomAD |
|
CA387918717 rs1335820055 |
367 | V>I | No |
ClinGen gnomAD |
|
CA387918706 rs1162402509 |
368 | L>V | No |
ClinGen TOPMed |
|
rs751972706 CA6960175 |
369 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960174 rs764212056 |
371 | V>M | No |
ClinGen ExAC gnomAD |
|
rs752654787 CA6960172 |
374 | T>A | No |
ClinGen ExAC gnomAD |
|
CA6960170 rs751945909 |
375 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA6960169 rs576565224 |
376 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA387918639 rs1345732710 |
376 | S>P | No |
ClinGen gnomAD |
|
CA387918635 rs1231336956 |
377 | P>A | No |
ClinGen gnomAD |
|
rs376733820 CA6960167 |
379 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA387918590 rs1593349475 |
380 | T>P | No |
ClinGen Ensembl |
|
CA387918566 rs1217475917 |
381 | Q>H | No |
ClinGen gnomAD |
|
CA6960164 rs147423556 |
384 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148475737 CA6960165 |
384 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA248372481 rs997506425 |
386 | V>L | No |
ClinGen TOPMed |
|
rs779369118 CA6960163 |
387 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA248372464 rs865878592 |
387 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs142908880 CA6960162 |
388 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA248372422 rs900398539 |
393 | Q>* | No |
ClinGen gnomAD |
|
CA6960159 rs757821336 |
393 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960158 rs751919508 |
394 | A>P | No |
ClinGen ExAC gnomAD |
|
CA248372409 rs866820215 |
395 | V>D | No |
ClinGen Ensembl |
|
rs765191272 CA6960154 |
398 | G>R | No |
ClinGen ExAC gnomAD |
|
rs945143204 CA248372390 |
399 | E>G | No |
ClinGen Ensembl |
|
rs34905611 CA6960153 |
399 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_048944 CA6960151 rs7323148 |
403 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1194450704 CA387918226 |
404 | S>N | No |
ClinGen gnomAD |
|
rs774219283 CA6960148 |
405 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1221729054 CA387918202 |
406 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA387918173 rs1322269026 |
407 | Q>H | No |
ClinGen gnomAD |
|
CA6960147 rs569468307 |
408 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs569468307 CA6960146 |
408 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs775181275 CA387918142 |
409 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1395683830 CA387918152 |
409 | E>K | No |
ClinGen TOPMed |
|
CA6960144 rs769384979 |
411 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 413 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776192222 CA6960142 |
415 | V>A | No |
ClinGen ExAC |
|
rs114375975 CA6960143 |
415 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6960139 rs201784200 CA387918041 |
416 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA6960141 rs141136513 |
416 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA248372281 rs1045885325 |
417 | S>I | No |
ClinGen TOPMed gnomAD |
|
rs1327188116 CA387918013 |
418 | I>T | No |
ClinGen TOPMed |
|
rs758821415 CA6960138 |
418 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1268456193 CA387918002 |
419 | R>G | No |
ClinGen TOPMed |
|
CA387922877 rs1467314988 |
420 | T>I | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 420 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6960121 rs772503411 |
421 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960120 rs772503411 |
421 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1284345794 CA387922859 |
423 | A>S | No |
ClinGen TOPMed |
|
rs1175744595 CA387922858 |
423 | A>V | No |
ClinGen gnomAD |
|
rs1566162674 CA387922853 |
424 | P>S | No |
ClinGen Ensembl |
|
CA6960119 rs748531706 |
425 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1427147318 CA387922843 |
426 | Q>E | No |
ClinGen gnomAD |
|
CA6960118 rs779209874 |
427 | V>I | No |
ClinGen ExAC gnomAD |
|
CA387922829 rs1480180125 |
428 | P>S | No |
ClinGen gnomAD |
|
CA387922824 rs1238503234 |
429 | V>L | No |
ClinGen gnomAD |
|
CA6960116 rs749531568 |
431 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749531568 CA387922813 |
431 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960115 rs368042351 |
432 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6960113 rs750520786 |
433 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960114 rs756235921 |
433 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764082039 CA6960112 |
437 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375140290 CA6960111 |
440 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6960110 rs752471658 |
442 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960109 rs765031385 |
445 | T>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 449 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765000740 CA248396858 |
449 | T>P | No |
ClinGen TOPMed gnomAD |
|
rs540284464 CA6960107 |
452 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960108 rs199564946 |
452 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6960106 rs766060383 |
453 | A>V | No |
ClinGen ExAC gnomAD |
|
rs760208850 CA6960105 |
454 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1001223538 CA387922632 |
455 | T>I | No |
ClinGen TOPMed |
|
rs1001223538 CA248396841 |
455 | T>K | No |
ClinGen TOPMed |
|
rs371815642 CA6960104 |
456 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6960103 rs41306656 |
458 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387922606 rs1484034674 |
460 | G>R | No |
ClinGen gnomAD |
|
rs1376936113 CA387922602 |
460 | G>V | No |
ClinGen Ensembl |
|
rs1023178685 CA248396825 |
463 | S>F | No |
ClinGen Ensembl |
|
CA6960101 rs145860913 |
463 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs749478443 CA6960099 |
465 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960100 rs769160866 |
465 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1365897814 CA387922564 |
466 | F>L | No |
ClinGen TOPMed |
|
rs780405648 CA6960098 |
467 | I>F | No |
ClinGen ExAC TOPMed |
|
CA387922563 rs780405648 |
467 | I>L | No |
ClinGen ExAC TOPMed |
|
CA6960096 rs745958024 |
468 | L>* | No |
ClinGen ExAC gnomAD |
|
CA6960095 rs79846574 |
469 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA6960094 rs146846076 |
471 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372346993 CA6960093 |
472 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs754738116 CA6960091 |
477 | M>V | No |
ClinGen ExAC gnomAD |
|
CA6960090 rs753681912 |
478 | T>A | No |
ClinGen ExAC gnomAD |
|
CA6960089 rs766003101 |
478 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1367613551 CA387922486 |
479 | V>G | No |
ClinGen gnomAD |
|
CA387922483 rs1242596090 |
480 | L>M | No |
ClinGen TOPMed |
|
rs1187999008 CA387922462 |
483 | N>D | No |
ClinGen gnomAD |
|
CA387922459 rs1465800722 |
483 | N>T | No |
ClinGen TOPMed |
|
CA387922454 rs1269446815 |
484 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA387922441 CA6960088 rs369423492 |
485 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387922448 rs1240732947 |
485 | M>V | No |
ClinGen TOPMed |
|
TCGA novel | 487 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA387922429 rs1172831088 |
487 | Q>H | No |
ClinGen TOPMed |
|
rs749880705 CA6960087 |
489 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1219513952 CA387922406 |
491 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA6960086 rs766946264 |
491 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6960083 rs376481585 |
492 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149160961 CA6960082 |
493 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs921953794 CA248396710 |
494 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs777083535 CA6960079 |
497 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387922356 rs1389961820 |
499 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA6960077 rs781286344 |
500 | G>C | No |
ClinGen ExAC gnomAD |
|
rs770947022 CA6960076 |
500 | G>D | No |
ClinGen ExAC gnomAD |
|
CA387922318 rs1329868020 |
505 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA387922320 COSM4152771 rs1370955264 |
505 | Q>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA387922304 rs1593344181 |
507 | V>G | No |
ClinGen Ensembl |
|
CA387922309 rs1566162420 |
507 | V>I | No |
ClinGen Ensembl |
|
rs544414935 CA6960075 |
509 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs544414935 CA248396659 |
509 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 510 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1264642493 CA387922280 |
511 | N>H | No |
ClinGen gnomAD |
|
CA6960074 rs778799774 |
511 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 513 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA387922190 rs1566162399 |
517 | N>D | No |
ClinGen Ensembl |
|
CA248396648 rs200709823 |
517 | N>S | No |
ClinGen TOPMed |
|
CA6960073 rs754966367 |
519 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779828314 CA248396641 |
520 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779828314 CA6960071 |
520 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA248396634 rs1014836006 |
521 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA6960070 rs755730886 |
525 | S>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 526 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1218181125 CA387922084 |
526 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA387922037 rs1221787504 |
529 | S>C | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 529 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs983729168 CA248396595 |
530 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA6960067 rs756688094 |
531 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387922014 rs1394141475 |
531 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs751176591 CA6960066 |
533 | P>S | No |
ClinGen ExAC gnomAD |
|
rs145271496 CA6960065 |
534 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
CA6960064 rs763561270 |
535 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960063 rs538458962 |
540 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA6960062 rs765543962 |
540 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387921909 rs1453844435 |
541 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA6960061 rs759765268 |
541 | S>R | No |
ClinGen ExAC gnomAD |
|
rs776686002 CA6960060 |
543 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs186378801 CA6960059 |
543 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6960058 rs200335001 |
548 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6960057 rs773346594 |
550 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387921851 rs773346594 |
550 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150015002 CA6960056 |
551 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs566775364 CA6960055 |
552 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387921828 rs1221326485 |
554 | T>I | No |
ClinGen TOPMed |
|
rs1333917173 CA387921824 |
555 | S>* | No |
ClinGen gnomAD |
|
rs1308215258 CA387921820 |
556 | V>L | No |
ClinGen gnomAD |
|
rs779846089 CA6960054 |
557 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779846089 CA387921812 |
557 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387921793 rs1401998658 |
559 | T>A | No |
ClinGen gnomAD |
|
rs1593344056 CA387921786 |
559 | T>I | No |
ClinGen Ensembl |
|
CA248396542 rs201257827 |
562 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
CA248396538 rs371226401 |
564 | T>A | No |
ClinGen ESP TOPMed |
|
rs1413393425 CA387921751 |
564 | T>I | No |
ClinGen gnomAD |
|
CA387921746 rs1402218970 |
565 | L>P | No |
ClinGen gnomAD |
|
TCGA novel | 565 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs113918519 CA248396534 |
566 | T>I | No |
ClinGen Ensembl |
|
CA387921733 rs1473088756 |
567 | Q>H | No |
ClinGen TOPMed |
|
rs1593344020 CA387921690 |
573 | E>A | No |
ClinGen Ensembl |
|
CA6960050 rs780698708 |
575 | E>G | No |
ClinGen ExAC gnomAD |
|
rs993468301 CA248396490 |
577 | H>R | No |
ClinGen Ensembl |
|
CA6960049 rs757006030 |
577 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs751049840 CA6960048 |
578 | L>F | No |
ClinGen ExAC gnomAD |
|
CA6960045 rs753290056 |
580 | E>G | No |
ClinGen ExAC gnomAD |
|
CA6960046 rs758927037 |
580 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 580 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs139235167 CA6960042 |
581 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs759798230 CA6960043 |
581 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1037748924 CA248396452 |
582 | T>A | No |
ClinGen TOPMed |
|
rs760888951 CA6960040 |
584 | K>E | No |
ClinGen ExAC gnomAD |
|
CA387921609 rs1378908913 |
585 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs772158393 CA6960038 |
586 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960037 rs749181243 |
587 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1335563866 CA387921596 |
587 | Q>P | No |
ClinGen gnomAD |
|
rs775255614 CA6960036 |
588 | Q>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 588 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368677066 CA6960035 |
589 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6960034 rs745649341 |
590 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1420680961 CA387921576 |
590 | Q>L | No |
ClinGen gnomAD |
|
TCGA novel | 590 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1180483974 CA387921561 |
592 | Y>* | No |
ClinGen gnomAD |
|
rs781050561 CA6960032 |
594 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960031 rs770653203 |
595 | V>I | No |
ClinGen ExAC gnomAD |
|
CA6960030 rs746685386 |
598 | S>R | No |
ClinGen ExAC gnomAD |
|
CA387921518 rs1245768304 |
599 | S>Y | No |
ClinGen TOPMed |
|
CA6960029 rs777380082 |
600 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1217171142 CA387921513 |
600 | N>Y | No |
ClinGen gnomAD |
|
TCGA novel | 601 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757952607 CA6960028 |
603 | T>A | No |
ClinGen ExAC gnomAD |
|
rs752304913 CA6960027 |
603 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6960026 rs779275273 |
604 | S>F | No |
ClinGen ExAC gnomAD |
|
rs755575705 CA6960025 |
605 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA6960024 rs754084704 |
605 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1193651831 CA387921482 |
605 | Q>R | No |
ClinGen TOPMed |
|
CA248396405 rs1052153245 |
607 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA387921466 rs1298292543 |
608 | M>T | No |
ClinGen gnomAD |
|
rs766778099 CA6960023 |
608 | M>V | No |
ClinGen ExAC gnomAD |
|
rs933232018 CA248396392 |
609 | K>R | No |
ClinGen Ensembl |
|
CA387921437 rs147878914 |
612 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs144467943 CA6960020 |
612 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs140656224 CA6960019 |
612 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6960021 rs147878914 |
612 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1414765344 CA387921430 |
613 | L>Q | No |
ClinGen gnomAD |
|
CA248396345 rs1052070375 |
616 | P>L | No |
ClinGen TOPMed |
No associated diseases with P32519
6 regional properties for P32519
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 191 - 453 | IPR000719 |
domain | AGC-kinase, C-terminal | 454 - 533 | IPR000961 |
domain | Pleckstrin homology domain | 558 - 654 | IPR001849 |
active_site | Serine/threonine-protein kinase, active site | 313 - 325 | IPR008271 |
domain | RGS domain | 54 - 175 | IPR016137 |
binding_site | Protein kinase, ATP binding site | 197 - 220 | IPR017441 |
3 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
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. |
5 GO annotations of molecular function
Name | Definition |
---|---|
DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
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. |
sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
6 GO annotations of biological process
Name | Definition |
---|---|
cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
negative regulation of T cell receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
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. |
regulation of cytokine production | Any process that modulates the frequency, rate, or extent of production of a cytokine. |
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
25 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q58DT0 | ELF5 | ETS-related transcription factor Elf-5 | Bos taurus (Bovine) | SS |
Q0VC65 | ETV6 | Transcription factor ETV6 | Bos taurus (Bovine) | SS |
Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
O95238 | SPDEF | SAM pointed domain-containing Ets transcription factor | Homo sapiens (Human) | PR |
P50548 | ERF | ETS domain-containing transcription factor ERF | Homo sapiens (Human) | PR |
P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
P43268 | ETV4 | ETS translocation variant 4 | Homo sapiens (Human) | EV |
P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
P41970 | ELK3 | ETS domain-containing protein Elk-3 | Homo sapiens (Human) | SS |
P28324 | ELK4 | ETS domain-containing protein Elk-4 | Homo sapiens (Human) | EV |
P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
Q8VDK3 | Elf5 | ETS-related transcription factor Elf-5 | Mus musculus (Mouse) | SS |
P97360 | Etv6 | Transcription factor ETV6 | Mus musculus (Mouse) | EV |
Q9JHC9 | Elf2 | ETS-related transcription factor Elf-2 | Mus musculus (Mouse) | PR |
Q9Z2U4 | Elf4 | ETS-related transcription factor Elf-4 | Mus musculus (Mouse) | PR |
Q60775 | Elf1 | ETS-related transcription factor Elf-1 | Mus musculus (Mouse) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MAAVVQQNDL | VFEFASNVME | DERQLGDPAI | FPAVIVEHVP | GADILNSYAG | LACVEEPNDM |
70 | 80 | 90 | 100 | 110 | 120 |
ITESSLDVAE | EEIIDDDDDD | ITLTVEASCH | DGDETIETIE | AAEALLNMDS | PGPMLDEKRI |
130 | 140 | 150 | 160 | 170 | 180 |
NNNIFSSPED | DMVVAPVTHV | SVTLDGIPEV | METQQVQEKY | ADSPGASSPE | QPKRKKGRKT |
190 | 200 | 210 | 220 | 230 | 240 |
KPPRPDSPAT | TPNISVKKKN | KDGKGNTIYL | WEFLLALLQD | KATCPKYIKW | TQREKGIFKL |
250 | 260 | 270 | 280 | 290 | 300 |
VDSKAVSRLW | GKHKNKPDMN | YETMGRALRY | YYQRGILAKV | EGQRLVYQFK | EMPKDLIYIN |
310 | 320 | 330 | 340 | 350 | 360 |
DEDPSSSIES | SDPSLSSSAT | SNRNQTSRSR | VSSSPGVKGG | ATTVLKPGNS | KAAKPKDPVE |
370 | 380 | 390 | 400 | 410 | 420 |
VAQPSEVLRT | VQPTQSPYPT | QLFRTVHVVQ | PVQAVPEGEA | ARTSTMQDET | LNSSVQSIRT |
430 | 440 | 450 | 460 | 470 | 480 |
IQAPTQVPVV | VSPRNQQLHT | VTLQTVPLTT | VIASTDPSAG | TGSQKFILQA | IPSSQPMTVL |
490 | 500 | 510 | 520 | 530 | 540 |
KENVMLQSQK | AGSPPSIVLG | PAQVQQVLTS | NVQTICNGTV | SVASSPSFSA | TAPVVTFSPR |
550 | 560 | 570 | 580 | 590 | 600 |
SSQLVAHPPG | TVITSVIKTQ | ETKTLTQEVE | KKESEDHLKE | NTEKTEQQPQ | PYVMVVSSSN |
610 | |||||
GFTSQVAMKQ | NELLEPNSF |