Q6EKJ0
PR
Gene name |
GTF2IRD2B |
Protein name |
General transcription factor II-I repeat domain-containing protein 2B |
Names |
GTF2I repeat domain-containing protein 2B, Transcription factor GTF2IRD2-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:389524 |
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 Q6EKJ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2E3L | NMR | - | A | 107-192 | PDB |
| AF-Q6EKJ0-F1 | Predicted | AlphaFoldDB |
571 variants for Q6EKJ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA367973171 rs1438924831 |
3 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1438924831 CA367973172 |
3 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367973175 rs1554450362 |
4 | V>I | No |
ClinGen gnomAD |
|
|
CA367973186 rs1275656408 |
5 | A>V | No |
ClinGen TOPMed |
|
|
rs781825165 CA4299186 |
7 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782755756 CA4299189 |
8 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782535575 CA4299192 |
11 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA159918424 rs200783316 |
14 | E>V | No |
ClinGen Ensembl |
|
|
CA4299194 rs782696571 |
15 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1554450367 CA367973264 |
18 | E>D | No |
ClinGen TOPMed |
|
|
rs1283694190 CA367973269 |
19 | T>N | No |
ClinGen TOPMed |
|
|
rs1442944843 CA367973277 |
20 | R>S | No |
ClinGen TOPMed |
|
|
CA367973298 rs1554450369 |
23 | V>A | No |
ClinGen gnomAD |
|
|
rs1554450371 CA367973307 |
25 | F>L | No |
ClinGen gnomAD |
|
|
rs199656428 CA4298645 |
27 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782613958 CA4299196 |
28 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA367973329 rs782613958 |
28 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782241206 CA4298643 |
31 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782658645 CA4299198 CA367973361 |
33 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs782384000 CA4299197 |
33 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554450849 CA367973422 |
41 | K>E | No |
ClinGen gnomAD |
|
|
CA367973449 rs1584530457 |
45 | A>T | No |
ClinGen Ensembl |
|
|
rs782773790 CA367973470 |
48 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367973480 rs781882917 |
49 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs587757629 CA367973490 |
51 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587757629 CA367973491 |
51 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367973511 rs1554450859 |
53 | D>E | No |
ClinGen gnomAD |
|
|
rs782477569 CA367973517 |
54 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782188964 CA367973512 |
54 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1191131040 CA367973536 |
57 | V>A | No |
ClinGen TOPMed |
|
|
rs782251900 CA367973532 |
57 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367973538 rs1269305151 |
58 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367973550 rs369307753 |
60 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554450862 CA367973558 |
61 | R>G | No |
ClinGen gnomAD |
|
|
rs781944066 CA367973575 |
64 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 68 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367973609 rs782771278 |
69 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301362868 CA367973617 |
70 | T>A | No |
ClinGen TOPMed |
|
|
CA367973619 rs1440249591 |
70 | T>K | No |
ClinGen TOPMed |
|
|
rs1318858340 CA367973666 |
72 | F>L | No |
ClinGen TOPMed |
|
|
CA367973754 rs1383754135 |
77 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA367975082 rs1461474167 |
80 | C>Y | No |
ClinGen TOPMed |
|
|
rs782325829 CA367975090 |
81 | V>A | No |
ClinGen ExAC |
|
|
CA4298621 rs782052724 |
81 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457758617 CA367975107 |
84 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1584536740 CA367975117 |
86 | C>R | No |
ClinGen Ensembl |
|
|
CA367975120 rs1160736444 |
86 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1160736444 CA367975121 |
86 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA367975128 rs782091324 |
87 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs782781334 CA367975132 |
88 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs781873218 CA367975150 |
90 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781873218 CA367975149 |
90 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237722245 CA4298617 |
90 | P>T | No |
ClinGen TOPMed |
|
|
CA367975166 rs1554451853 |
93 | P>A | No |
ClinGen gnomAD |
|
|
rs782813957 CA4298614 |
96 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367975201 rs1554451854 |
98 | Q>H | No |
ClinGen gnomAD |
|
|
CA367975199 rs781799521 |
98 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA367975203 rs1554451855 |
99 | V>I | No |
ClinGen gnomAD |
|
|
rs1241966512 CA367975210 |
100 | H>N | No |
ClinGen TOPMed |
|
|
rs371478210 CA4298610 |
101 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367975223 rs1322225645 |
102 | G>D | No |
ClinGen TOPMed |
|
|
CA4298607 rs782281962 |
103 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782309974 CA4298606 |
104 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367975243 rs782212116 |
105 | E>V | No |
ClinGen ExAC |
|
|
rs200736638 CA367975251 |
106 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA367975267 rs781986759 |
109 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782133408 CA367975276 |
110 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298602 rs782402904 |
111 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367975289 rs1584536841 |
112 | E>V | No |
ClinGen Ensembl |
|
|
CA4298601 rs1450968061 |
113 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 115 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367975336 rs1263763169 |
118 | C>F | No |
ClinGen TOPMed |
|
|
CA367975343 rs782054116 |
119 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA159921209 rs112126146 |
119 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481489963 CA367975418 |
125 | T>A | No |
ClinGen TOPMed |
|
|
rs1554452141 CA367975450 |
127 | V>A | No |
ClinGen gnomAD |
|
|
CA367975466 rs1204016486 |
128 | M>T | No |
ClinGen TOPMed |
|
|
CA367975458 rs587707076 |
128 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367975479 rs1359628799 |
129 | V>M | No |
ClinGen TOPMed |
|
|
rs200012926 CA4298569 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA367975510 rs1243072857 |
131 | V>I | No |
ClinGen TOPMed |
|
|
rs1554452146 CA159922064 |
132 | P>A | No |
ClinGen gnomAD |
|
|
CA367975561 rs1308304203 |
133 | Y>C | No |
ClinGen TOPMed |
|
|
rs1554452148 CA367975570 |
134 | E>K | No |
ClinGen gnomAD |
|
|
rs782145029 CA367975595 |
135 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1554452150 CA367975629 |
136 | M>L | No |
ClinGen gnomAD |
|
|
rs1584538707 CA367975667 |
138 | R>G | No |
ClinGen Ensembl |
|
|
rs1554452151 CA4298565 |
138 | R>Q | No |
ClinGen gnomAD |
|
|
rs781912723 CA4298564 |
141 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367975719 rs782806060 |
141 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs781912723 CA159922175 |
141 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA159922195 rs1554452153 |
143 | V>L | No |
ClinGen gnomAD |
|
|
rs782783918 CA4298556 |
149 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367975887 rs1554452159 |
152 | V>A | No |
ClinGen gnomAD |
|
|
rs782552756 CA159922307 |
152 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782552756 CA4298553 |
152 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554452160 CA367975905 |
155 | Q>R | No |
ClinGen gnomAD |
|
|
rs782561878 CA367975911 |
156 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782200678 CA367975923 |
158 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367975920 rs1249357186 |
158 | E>K | No |
ClinGen TOPMed |
|
|
CA367975939 rs782471080 |
160 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA367975981 rs782253560 |
161 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367975968 rs1554536227 |
161 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA367975990 rs1554452165 |
162 | L>V | No |
ClinGen gnomAD |
|
|
rs782402598 CA367976010 |
163 | A>G | No |
ClinGen ExAC |
|
|
CA159922405 rs782031868 |
167 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs782176762 CA367976089 |
168 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782318640 CA367976148 |
170 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1241828657 CA367976161 |
171 | N>D | No |
ClinGen TOPMed |
|
|
CA367976216 rs1288139220 |
173 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367976260 rs1347659828 |
175 | I>F | No |
ClinGen TOPMed |
|
|
rs782097701 CA367976343 |
177 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781948803 CA367976326 |
177 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554452173 CA367976364 |
178 | I>T | No |
ClinGen gnomAD |
|
|
rs1554452176 CA367976415 |
180 | N>I | No |
ClinGen gnomAD |
|
|
CA159922485 rs1554536214 |
180 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1554452176 CA367976418 |
180 | N>S | No |
ClinGen gnomAD |
|
|
CA367977047 rs1447123122 |
183 | F>Y | No |
ClinGen TOPMed |
|
|
rs1248012319 CA367977091 |
187 | E>G | No |
ClinGen TOPMed |
|
|
CA367977102 rs1554452204 |
188 | S>N | No |
ClinGen gnomAD |
|
|
rs1554452205 CA367977138 |
190 | L>M | No |
ClinGen gnomAD |
|
|
rs1204879099 CA367977148 |
191 | G>S | No |
ClinGen TOPMed |
|
|
rs1269193062 CA367977549 |
210 | C>Y | No |
ClinGen TOPMed |
|
|
CA367977554 rs201207883 |
211 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA367977553 rs201207883 |
211 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA367977574 rs1554452416 |
214 | N>D | No |
ClinGen gnomAD |
|
|
CA367977598 rs1234154183 |
217 | T>S | No |
ClinGen TOPMed |
|
|
CA367977609 rs1314040012 |
219 | P>S | No |
ClinGen TOPMed |
|
|
rs202228178 CA367977616 |
220 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1438665331 CA367977622 |
221 | E>K | No |
ClinGen TOPMed |
|
|
rs1252343375 CA367977816 |
224 | G>D | No |
ClinGen TOPMed |
|
|
CA367977857 rs1207766670 |
228 | K>R | No |
ClinGen TOPMed |
|
|
CA367977875 rs1340432058 |
231 | A>T | No |
ClinGen TOPMed |
|
|
rs1554453181 CA367977890 |
233 | S>* | No |
ClinGen Ensembl |
|
|
rs1246960137 CA367977931 |
238 | S>P | No |
ClinGen TOPMed |
|
|
rs1385157019 CA367977949 |
239 | E>A | No |
ClinGen TOPMed |
|
|
rs1310661372 CA4298515 |
240 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA367977978 rs1395464379 |
241 | P>A | No |
ClinGen TOPMed |
|
|
CA367977983 rs1401430392 |
241 | P>R | No |
ClinGen TOPMed |
|
|
rs1395464379 CA367977975 |
241 | P>S | No |
ClinGen TOPMed |
|
|
CA367978078 rs1298632734 |
248 | M>V | No |
ClinGen TOPMed |
|
|
CA367978115 rs1431438168 |
250 | G>R | No |
ClinGen TOPMed |
|
|
CA367978254 rs1170447474 |
251 | S>N | No |
ClinGen TOPMed |
|
|
CA367978259 rs782579565 |
251 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554453369 CA4298513 |
252 | H>R | No |
ClinGen gnomAD |
|
|
rs1554453370 CA367978289 |
253 | P>R | No |
ClinGen gnomAD |
|
|
rs374019457 CA367978302 |
254 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367978314 rs1554453373 |
255 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367978349 rs1554453375 |
258 | N>S | No |
ClinGen gnomAD |
|
|
CA159925487 rs1554534753 |
260 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367978392 rs782637618 |
261 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252215285 CA367978419 |
263 | M>I | No |
ClinGen TOPMed |
|
|
rs1197351831 CA367978427 |
264 | E>G | No |
ClinGen TOPMed |
|
|
CA367978439 rs1479580106 |
266 | P>A | No |
ClinGen TOPMed |
|
|
rs782255099 CA367978443 |
266 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587649647 CA367978488 |
270 | S>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1465009039 CA367978500 |
272 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1554453584 CA367978495 |
272 | P>T | No |
ClinGen gnomAD |
|
|
rs1466800830 CA367978507 |
274 | V>L | No |
ClinGen TOPMed |
|
|
CA367978547 rs1421017042 |
279 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367978560 rs1192558247 |
281 | E>G | No |
ClinGen TOPMed |
|
|
CA367978568 rs1475399584 |
282 | D>G | No |
ClinGen TOPMed |
|
|
rs199626115 CA367978589 |
285 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1236910508 CA367978592 |
286 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1199349215 CA367978618 |
289 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367978621 rs1554453592 |
290 | E>K | No |
ClinGen gnomAD |
|
|
CA367978662 rs1554453787 |
293 | T>I | No |
ClinGen gnomAD |
|
|
CA367978658 rs1484628792 |
293 | T>S | No |
ClinGen TOPMed |
|
|
CA367978677 rs1554453788 |
295 | S>L | No |
ClinGen TOPMed |
|
|
CA367978689 rs782105326 |
297 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1223771015 CA367978707 |
300 | N>T | No |
ClinGen TOPMed |
|
|
rs1325341634 CA367978721 |
302 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA367978723 rs1325341634 |
302 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1554453792 CA367978731 |
304 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1222738387 CA367978746 |
306 | E>G | No |
ClinGen TOPMed |
|
|
rs1554453795 CA367978777 |
310 | I>S | No |
ClinGen gnomAD |
|
|
CA159926384 rs781877148 |
311 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367978779 rs781877148 |
311 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367978798 rs1563100152 |
314 | T>A | No |
ClinGen Ensembl |
|
|
CA367978807 rs1554453797 |
316 | P>S | No |
ClinGen gnomAD |
|
|
rs1429248311 CA367978904 |
327 | E>A | No |
ClinGen TOPMed |
|
|
CA367979011 rs1350643424 |
342 | R>Q | No |
ClinGen TOPMed |
|
|
rs1315130619 CA367979047 |
345 | G>V | No |
ClinGen TOPMed |
|
|
CA367979075 rs1554533702 |
350 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA367979165 rs1223327569 |
363 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367979214 rs1554533690 |
370 | I>T | No |
ClinGen TOPMed |
|
|
CA367979249 rs1394209152 |
375 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367979245 rs1439084970 |
375 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367979261 rs1584550726 |
377 | V>G | No |
ClinGen Ensembl |
|
|
CA367979287 rs370642824 |
381 | A>D | No |
ClinGen Ensembl |
|
|
CA367979292 rs1554533674 |
383 | G>S | No |
ClinGen TOPMed |
|
|
rs1554454050 CA367979305 |
385 | L>P | No |
ClinGen gnomAD |
|
|
rs1433297553 CA367979316 |
387 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367979328 rs1426775392 |
389 | S>P | No |
ClinGen TOPMed |
|
|
CA367979351 rs1467815120 |
393 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1248408849 CA367979406 |
401 | K>R | No |
ClinGen TOPMed |
|
|
rs1210424439 CA367979418 |
403 | T>A | No |
ClinGen TOPMed |
|
|
rs1554454055 CA367979420 |
403 | T>I | No |
ClinGen Ensembl |
|
|
CA367979425 rs1484842919 |
404 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1554533469 CA159928374 |
410 | G>E | No |
ClinGen Ensembl |
|
|
rs1339008201 CA367980114 |
419 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1285114692 CA367980115 |
419 | R>H | No |
ClinGen TOPMed |
|
|
CA367980130 rs1450643214 |
421 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 424 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584553896 CA367980157 |
425 | G>S | No |
ClinGen Ensembl |
|
|
rs587683733 CA367980165 |
426 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 430 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 431 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367980210 rs1448258383 |
432 | W>* | No |
ClinGen TOPMed |
|
|
rs1554454436 CA367980226 |
434 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 435 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554454440 CA159929963 |
436 | Y>H | No |
ClinGen gnomAD |
|
|
rs587770496 CA367980259 CA367980258 |
439 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA367980257 rs587770496 |
439 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1442556503 CA367980270 |
440 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1384442100 CA367980271 |
441 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1554532964 CA367980278 |
442 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA367980284 rs1459075620 |
443 | N>H | No |
ClinGen TOPMed |
|
|
CA159929982 rs1554532959 |
445 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367980320 rs1554532954 |
449 | I>V | No |
ClinGen TOPMed |
|
|
rs1248522663 CA367980327 |
450 | C>R | No |
ClinGen TOPMed |
|
|
CA367980332 rs587726788 |
450 | C>W | No |
ClinGen 1000Genomes |
|
| TCGA novel | 451 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554454449 CA159930014 |
451 | K>Q | No |
ClinGen gnomAD |
|
|
rs1357741160 CA367980339 |
452 | Q>K | No |
ClinGen TOPMed |
|
|
CA159930029 rs1554532945 |
454 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367980355 rs1554532945 |
454 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367980392 rs1554454451 |
459 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554454453 CA367980414 |
463 | R>K | No |
ClinGen gnomAD |
|
|
CA367980419 rs1554532942 |
464 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1554532941 CA159930101 |
464 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 464 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 465 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367980433 rs1554454454 |
466 | Y>C | No |
ClinGen gnomAD |
|
|
CA367980459 rs1440842899 |
470 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 472 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584553981 CA367980487 |
474 | Y>D | No |
ClinGen Ensembl |
|
|
rs782310453 CA367980502 |
476 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202079108 CA367980517 |
478 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA159930187 rs202079108 |
478 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201065467 CA367980518 |
479 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367980542 rs587647388 |
482 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367980541 rs587647388 |
482 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367980543 rs1554532927 |
482 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201813446 CA159930217 |
483 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367980548 rs1469682977 |
483 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 484 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367980551 rs1489933921 |
484 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1217844072 CA367980576 |
488 | E>K | No |
ClinGen TOPMed |
|
|
rs1554454464 CA367980590 |
490 | K>E | No |
ClinGen gnomAD |
|
|
CA367980594 rs1319181602 |
490 | K>I | No |
ClinGen TOPMed |
|
|
rs1305508436 CA367980596 |
490 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA367980604 rs1554454466 |
492 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 494 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554454468 CA367980617 |
494 | R>T | No |
ClinGen gnomAD |
|
|
CA367980642 rs1367688591 |
497 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 497 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554532911 CA367980645 |
498 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 499 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367980657 rs587684960 |
500 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA159930312 rs587684960 |
500 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 503 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199834582 CA367980675 |
503 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367980682 rs1554454474 |
504 | E>D | No |
ClinGen gnomAD |
|
|
CA367980678 rs201547748 |
504 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415015194 CA367980685 |
505 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 506 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA159930342 rs782116392 |
507 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781837146 CA367980701 |
507 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs782721895 CA367980698 |
507 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782721895 CA367980699 |
507 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367980710 rs1554454478 |
508 | Q>R | No |
ClinGen gnomAD |
|
|
CA367980747 rs1554454484 |
513 | A>V | No |
ClinGen gnomAD |
|
|
CA367980748 rs1487045611 |
514 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1259409863 CA367980775 |
518 | T>N | No |
ClinGen TOPMed |
|
|
CA367980779 rs1554454486 |
519 | Q>* | No |
ClinGen gnomAD |
|
|
CA367980780 rs1554454486 |
519 | Q>E | No |
ClinGen gnomAD |
|
|
rs1554454489 CA159930406 |
521 | S>P | No |
ClinGen gnomAD |
|
|
rs1313319940 CA367980795 |
521 | S>Y | No |
ClinGen TOPMed |
|
|
rs781887117 CA367980804 |
523 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554454491 CA367980833 |
527 | E>K | No |
ClinGen gnomAD |
|
|
CA367980849 rs1554454492 |
529 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 529 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221161115 CA367980851 |
529 | L>Q | No |
ClinGen TOPMed |
|
|
CA367980859 rs1554454497 |
530 | A>V | No |
ClinGen gnomAD |
|
|
rs1344415546 CA367980863 |
531 | G>E | No |
ClinGen TOPMed |
|
|
rs782546036 CA367980868 |
532 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1554454500 CA367980882 |
534 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 535 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367980902 rs1383632511 |
536 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1554532867 CA367980911 |
538 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs376859101 CA367980912 |
538 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563102102 CA367980913 |
539 | E>K | No |
ClinGen Ensembl |
|
|
rs1448611085 CA367980943 |
543 | S>P | No |
ClinGen TOPMed |
|
|
CA367980946 rs782483748 |
543 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 544 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA159930477 rs782251605 |
545 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1554532861 CA367980962 |
546 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367980973 rs1178598176 |
548 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs782528378 CA367980982 |
549 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554532856 CA159930491 |
550 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367980984 rs1554532856 |
550 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 552 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782171164 CA367981012 |
554 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782314107 CA367981022 |
555 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367981027 rs782218094 |
556 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367981030 rs1584554220 |
557 | I>V | No |
ClinGen Ensembl |
|
|
CA367981064 rs1554454509 |
561 | T>S | No |
ClinGen gnomAD |
|
|
CA367981072 rs1554454510 |
563 | L>S | No |
ClinGen gnomAD |
|
|
CA159930585 rs587684600 |
563 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 564 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367981081 rs782001606 |
565 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA367981099 rs782149057 |
568 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367981102 rs1554454513 |
568 | R>H | No |
ClinGen gnomAD |
|
|
CA367981115 rs782065809 |
571 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA367981112 rs1322210387 |
571 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs587764303 CA367981145 |
575 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367981140 rs1554532833 |
575 | D>H | No |
ClinGen Ensembl |
|
|
CA159930663 rs1554532833 |
575 | D>Y | No |
ClinGen Ensembl |
|
|
CA367981162 rs1554454530 |
579 | E>K | No |
ClinGen gnomAD |
|
|
CA159930716 rs879976321 |
582 | D>E | No |
ClinGen gnomAD |
|
|
rs1554532825 CA367981190 |
583 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA367981194 rs1554454533 |
584 | V>L | No |
ClinGen gnomAD |
|
|
CA367981198 rs368597205 |
585 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368597205 CA159930741 |
585 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367981203 rs782587784 |
586 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367981202 rs782558756 |
586 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782203730 CA367981210 |
587 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1463684399 CA367981211 |
588 | G>S | No |
ClinGen TOPMed |
|
|
CA367981226 rs782623890 |
590 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367981234 rs1170115963 |
592 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 592 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147320355 CA367981247 |
593 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367981249 rs587618880 |
594 | E>K | No |
ClinGen 1000Genomes |
|
|
CA159930861 rs782329470 |
597 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs140322280 CA159930852 |
597 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA159930855 rs140322280 |
597 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367981271 rs145696359 |
598 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200522526 CA367981272 |
598 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367981278 rs1479417984 |
599 | V>A | No |
ClinGen TOPMed |
|
|
rs148535389 CA367981273 |
599 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250430906 CA367981290 |
601 | K>R | No |
ClinGen TOPMed |
|
|
CA367981305 rs1584554394 |
603 | L>R | No |
ClinGen Ensembl |
|
|
rs587750642 CA367981301 |
603 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782816209 CA159930883 |
604 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781800060 CA367981316 |
605 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312701335 CA367981324 |
606 | F>L | No |
ClinGen TOPMed |
|
|
rs1554454553 CA367981327 |
607 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1245126114 CA367981334 |
608 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA159930951 rs142850866 |
609 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA918047242 rs71534498 |
609 | N>DWSK | No |
ClinGen Ensembl |
|
|
CA159930945 rs142850866 |
609 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782509703 CA367981341 |
609 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA367981351 rs1563102242 |
610 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1554532774 CA159930972 |
611 | S>L | No |
ClinGen Ensembl |
|
|
rs1554532765 CA159930981 |
612 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782439047 CA367981367 |
613 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA367981383 rs782586906 |
616 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1554454563 CA367981390 |
617 | A>P | No |
ClinGen gnomAD |
|
|
rs1554454563 CA367981391 |
617 | A>S | No |
ClinGen gnomAD |
|
|
CA367981415 rs1367820613 |
622 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1554454565 CA367981420 |
623 | A>T | No |
ClinGen gnomAD |
|
|
rs1554532755 CA159931056 |
623 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367981428 rs1554454566 |
624 | M>T | No |
ClinGen gnomAD |
|
|
rs782264893 CA367981455 |
628 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA159931128 rs1554532749 |
629 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367981463 rs1554454569 |
630 | G>R | No |
ClinGen gnomAD |
|
|
CA367981504 rs782058977 |
637 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs202112649 CA367981525 |
640 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA159931232 rs781961291 |
641 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs781881726 CA367981539 |
642 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367981533 rs1221471000 |
642 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367981536 rs1354255836 |
642 | F>S | No |
ClinGen TOPMed |
|
|
CA367981551 rs1236873966 |
644 | K>N | No |
ClinGen TOPMed |
|
|
rs1334022892 CA367981558 |
645 | G>D | No |
ClinGen TOPMed |
|
|
CA367981564 rs1306444509 |
646 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367981586 rs1554454575 |
650 | S>P | No |
ClinGen gnomAD |
|
|
CA367981593 rs374261992 |
651 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 654 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367981640 rs781811600 |
657 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367981643 rs71554699 |
658 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs71554699 CA159931306 |
658 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 661 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781857495 CA367981680 |
663 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1554454584 CA367981711 |
668 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 670 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554454585 CA367981740 |
672 | D>N | No |
ClinGen TOPMed |
|
|
CA367981748 rs782298578 |
673 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782316416 CA367981754 |
674 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA367981781 rs782369900 |
678 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367981776 rs782222003 |
678 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA367981805 rs1554454588 |
681 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 682 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782148051 CA367981817 |
683 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781994193 CA367981814 |
683 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782148051 CA367981816 |
683 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367981822 rs587729713 |
684 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781918837 CA367981820 |
684 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1286132099 CA367981826 |
685 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1286132099 CA367981825 |
685 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367981829 rs1349894508 |
685 | G>V | No |
ClinGen TOPMed |
|
|
rs1584554622 CA367981837 |
687 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 687 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367981855 rs587656252 |
690 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1325861993 CA367981864 |
691 | F>L | No |
ClinGen TOPMed |
|
|
CA367981877 rs1584554648 |
693 | T>P | No |
ClinGen Ensembl |
|
|
rs782122164 CA367981901 |
696 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1584554652 CA367981905 |
697 | E>Q | No |
ClinGen Ensembl |
|
|
rs1404641518 CA367981912 |
698 | L>M | No |
ClinGen TOPMed |
|
|
rs1554454604 CA367981918 |
699 | D>A | No |
ClinGen gnomAD |
|
|
rs1554454604 CA367981919 |
699 | D>G | No |
ClinGen gnomAD |
|
|
CA367981926 rs1554454606 |
700 | S>N | No |
ClinGen gnomAD |
|
|
rs1380976694 CA367981968 |
706 | L>P | No |
ClinGen TOPMed |
|
|
rs1554454611 CA367981977 |
707 | Y>* | No |
ClinGen Ensembl |
|
|
CA367981991 rs1554454612 |
709 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1470662042 CA367982042 |
716 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367982044 rs1554454615 |
716 | R>H | No |
ClinGen gnomAD |
|
|
rs1175223687 CA367982048 CA367982047 |
717 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367982052 rs1243579650 |
717 | G>V | No |
ClinGen TOPMed |
|
|
rs1175223687 CA367982049 |
717 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA367982060 rs781894229 |
719 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA367982059 rs781894229 |
719 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA367982074 rs1261387034 |
721 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367982095 rs1340351154 |
724 | F>S | No |
ClinGen TOPMed |
|
|
CA367982101 rs1554454622 |
725 | E>K | No |
ClinGen gnomAD |
|
|
CA367982110 rs1554454623 |
726 | S>F | No |
ClinGen gnomAD |
|
|
rs782568510 CA367982122 |
729 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584554751 CA367982139 |
731 | D>A | No |
ClinGen Ensembl |
|
|
CA367982136 rs1554454627 |
731 | D>N | No |
ClinGen gnomAD |
|
|
rs1554454628 CA367982155 |
734 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 735 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584554759 CA367982194 |
739 | K>N | No |
ClinGen Ensembl |
|
|
CA367982196 rs1554532650 |
740 | P>H | No |
ClinGen TOPMed |
|
|
CA159931596 rs1554532653 |
740 | P>S | No |
ClinGen TOPMed |
|
|
CA367982215 rs1554454629 |
744 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 745 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335520219 CA367982236 |
747 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1554532638 CA367982259 |
751 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1554532635 CA367982260 |
751 | R>Q | No |
ClinGen TOPMed |
|
|
rs1584554795 CA367982261 |
752 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 752 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 753 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 754 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367982293 rs1474955095 |
757 | V>A | No |
ClinGen TOPMed |
|
|
CA367982291 rs1554454630 |
757 | V>I | No |
ClinGen gnomAD |
|
|
CA367982302 rs1385708352 |
759 | M>L | No |
ClinGen TOPMed |
|
|
CA367982311 rs1554532631 |
760 | T>M | No |
ClinGen TOPMed |
|
|
CA367982334 rs200359973 |
764 | N>Y | No |
ClinGen Ensembl |
|
|
CA159931808 rs201309149 |
765 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209547285 CA367982348 |
766 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA367982351 rs1554454636 |
767 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 767 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367982359 rs1275363123 |
768 | I>V | No |
ClinGen TOPMed |
|
|
rs1194362716 CA367982370 |
770 | L>F | No |
ClinGen TOPMed |
|
|
CA367982391 rs1554454637 |
773 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 775 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367982416 rs1554454638 |
777 | V>L | No |
ClinGen gnomAD |
|
|
rs1554532621 CA159931871 |
778 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 779 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248741020 CA367982434 |
780 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1248741020 CA367982433 |
780 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1313648142 CA367982448 |
781 | Y>* | No |
ClinGen TOPMed |
|
|
CA367982444 rs1381261071 |
781 | Y>C | No |
ClinGen TOPMed |
|
|
rs1355836243 CA367982464 |
784 | I>M | No |
ClinGen TOPMed |
|
|
CA367982466 rs1554532615 |
785 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1554454642 CA367982465 |
785 | R>W | No |
ClinGen gnomAD |
|
|
rs2523347 CA367982470 |
786 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367982471 rs1554454645 |
787 | F>V | No |
ClinGen gnomAD |
|
|
rs1554454646 CA367982479 |
788 | L>I | No |
ClinGen gnomAD |
|
|
rs782258112 CA159931977 |
791 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA367982503 rs782532842 |
792 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA159932050 rs376335386 |
799 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376335386 CA159932048 |
799 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1181296554 CA367982549 |
800 | R>G | No |
ClinGen TOPMed |
|
|
rs782326474 CA367982551 |
800 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA159932087 rs1584554923 |
800 | R>S | No |
ClinGen Ensembl |
|
|
rs369904843 CA367982577 |
804 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1470550830 CA367982580 |
805 | H>Y | No |
ClinGen TOPMed |
|
|
CA367982597 rs782229044 |
807 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367982592 rs1554454647 |
807 | P>S | No |
ClinGen gnomAD |
|
|
rs1554532600 CA367982601 |
808 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367982603 rs1584554939 |
809 | L>V | No |
ClinGen Ensembl |
|
|
rs782371324 CA367982618 |
811 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA159932239 rs2074708 |
812 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367982652 rs782818057 |
817 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1291677572 CA367982677 |
821 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367982683 rs1224896391 |
822 | Y>D | No |
ClinGen TOPMed |
|
|
rs1554454656 CA367982689 |
823 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 824 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA159932303 rs587669480 |
824 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367982700 rs1554532582 |
825 | K>Q | No |
ClinGen TOPMed |
|
|
rs1554454657 CA367982707 |
826 | I>V | No |
ClinGen gnomAD |
|
|
rs1554454661 CA367982712 |
827 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1440963695 CA367982715 |
827 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782071768 CA367982725 |
829 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA367982729 rs1554454663 |
830 | K>Q | No |
ClinGen gnomAD |
|
|
rs1554454665 CA367982743 |
832 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367982765 rs1422528161 |
834 | Q>H | No |
ClinGen TOPMed |
|
|
CA367982776 rs1554454666 |
836 | R>W | No |
ClinGen gnomAD |
|
|
CA367982804 CA367982803 rs1402423834 |
840 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367982821 rs1156927047 |
843 | Y>C | No |
ClinGen TOPMed |
|
|
rs1554532557 CA367982825 |
844 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1554532546 CA159932423 |
846 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1217106937 CA367982851 |
848 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1281476763 CA367982856 |
850 | F>L | No |
ClinGen TOPMed |
|
|
rs1554532534 CA159932505 |
853 | P>L | No |
ClinGen TOPMed |
|
|
rs1554532534 CA159932504 |
853 | P>R | No |
ClinGen TOPMed |
|
|
CA367982890 rs1554532525 |
855 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 856 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432757422 CA367982912 |
859 | D>H | No |
ClinGen TOPMed |
|
|
rs1343367378 CA367982928 |
861 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367982932 rs1554454677 |
862 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1456759351 CA367982943 |
863 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 863 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554454678 CA367982944 |
864 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 864 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430159839 CA367982973 |
868 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1554454680 CA367982984 |
869 | V>D | No |
ClinGen gnomAD |
|
|
rs1584555088 CA367982981 |
869 | V>F | No |
ClinGen Ensembl |
|
|
rs1554454682 CA367982986 |
870 | I>V | No |
ClinGen gnomAD |
|
|
CA367982991 rs1554532512 |
871 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367983009 rs1554454684 |
874 | C>R | No |
ClinGen gnomAD |
|
|
rs200908949 CA367983025 |
876 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367983027 rs1554532497 |
876 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782792150 CA367983049 |
880 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367983069 rs587698238 |
883 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA367983074 rs587733445 |
884 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367983080 rs1554454686 |
885 | V>M | No |
ClinGen gnomAD |
|
|
rs1563102649 CA367983096 |
887 | I>M | No |
ClinGen Ensembl |
|
|
CA367983106 rs1554454687 |
889 | E>A | No |
ClinGen gnomAD |
|
|
rs1563102657 CA367983104 |
889 | E>Q | No |
ClinGen Ensembl |
|
|
CA367983128 rs1554454688 |
892 | K>E | No |
ClinGen gnomAD |
|
|
rs782584283 CA367983132 |
892 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216119195 CA367983137 |
893 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA367983153 rs1359674447 |
895 | W>* | No |
ClinGen TOPMed |
|
|
rs1554454691 CA367983152 |
895 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 896 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782210519 CA367983183 |
899 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367983220 rs782644009 |
904 | H>L | No |
ClinGen ExAC |
|
|
CA367983224 rs1406895239 |
905 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA159932908 rs782261096 |
906 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782410484 CA367983248 |
908 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367983251 rs1554454701 |
909 | L>F | No |
ClinGen gnomAD |
|
|
rs782041891 CA367983275 |
913 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA367983288 rs782189338 |
915 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA367983301 rs1171496377 |
917 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554454705 CA367983318 |
919 | E>K | No |
ClinGen gnomAD |
|
|
rs781958339 CA367983335 |
921 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367983334 rs781958339 |
921 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782105638 CA367983342 |
922 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367983363 rs1563102729 |
925 | M>T | No |
ClinGen Ensembl |
|
|
CA367983371 rs782012780 |
926 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782156627 CA367983376 |
927 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA367983419 rs1554454710 |
933 | C>S | No |
ClinGen gnomAD |
|
|
CA367983422 rs1201231718 |
934 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1554454713 CA367983432 |
935 | Q>H | No |
ClinGen gnomAD |
|
|
rs1554454716 CA367983438 |
936 | L>F | No |
ClinGen gnomAD |
|
|
rs1584555297 CA367983459 |
940 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 943 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367983502 rs782083676 |
947 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA367983501 rs782083676 |
947 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA159933110 rs1554532427 |
948 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367983508 rs1554532427 |
948 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367983515 rs781855115 |
949 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782532242 CA367983518 |
950 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554454717 CA367983520 |
950 | T>W | No |
ClinGen gnomAD |
1 associated diseases with Q6EKJ0
Without disease ID
No regional properties for Q6EKJ0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6EKJ0 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| 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. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4IFA3 | GTF2IRD2 | General transcription factor II-I repeat domain-containing protein 2 | Bos taurus (Bovine) | PR |
| A7MB80 | GTF2I | General transcription factor II-I | Bos taurus (Bovine) | PR |
| Q86UP8 | GTF2IRD2 | General transcription factor II-I repeat domain-containing protein 2A | Homo sapiens (Human) | PR |
| Q9UHL9 | GTF2IRD1 | General transcription factor II-I repeat domain-containing protein 1 | Homo sapiens (Human) | PR |
| P78347 | GTF2I | General transcription factor II-I | Homo sapiens (Human) | PR |
| Q9JI57 | Gtf2ird1 | General transcription factor II-I repeat domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q9ESZ8 | Gtf2i | General transcription factor II-I | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQVAVSTLP | VEEESSSETR | MVVTFLVSAL | ESMCKELAKS | KAEVACIAVY | ETDVFVVGTE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGCAFVNART | DFQKDFAKYC | VAEGLCEVKP | PCPVNGMQVH | SGETEILRKA | VEDYFCFCYG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KALGTTVMVP | VPYEKMLRDQ | SAVVVQGLPE | GVAFQHPENY | DLATLKWILE | NKAGISFIIN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RPFLGPESQL | GGPGMVTDAE | RSIVSPSESC | GPINVKTEPM | EDSGISLKAE | AVSVKKESED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PNYYQYNMQG | SHPSSTSNEV | IEMELPMEDS | TPLVPSEEPN | EDPEAEVKIE | GNTNSSSVTN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SAAGVEDLNI | VQVTVPDNEK | ERLSSIEKIK | QLREQVNDLF | SRKFGEAIGV | DFPVKVPYRK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ITFNPGCVVI | DGMPPGVVFK | APGYLEISSM | RRILEAAEFI | KFTVIRPLPG | LELSNVGKRK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IDQEGRVFQE | KWERAYFFVE | VQNIPTCLIC | KQSMSVSKEY | NLRRHYQTNH | SKHYDQYTER |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MRDEKLHELK | KGLRKYLLGS | SDTECPEQKQ | VFANPSPTQK | SPVQPVEDLA | GNLWEKLREK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IRSFVAYSIA | IDEITDINNT | TQLAIFIRGV | DENFDVSEEL | LDTVPMTGTK | SGNEIFLRVE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KSLKKFCINW | SRLVSVASTG | TPAMVDANNG | LVTKLKSRVA | TFCKGAELKS | ICCIIHPESL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CAQKLKMDHV | MDVVVKSVNW | ICSRGLNHSE | FTTLLYELDS | QYGSLLYYTE | IKWLSRGLVL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KRFFESLEEI | DSFMSSRGKP | LPQLSSIDWI | RDLAFLVDMT | MHLNALNISL | QGHSQIVTQM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YDLIRAFLAK | LCLWETHLTR | NNLAHFPTLK | LVSRNESDGL | NYIPKIAELK | TEFQKRLSDF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KLYESELTLF | SSPFSTKIDS | VHEELQMEVI | DLQCNTVLKT | KYDKVGIPEF | YKYLWGSYPK |
| 910 | 920 | 930 | 940 | ||
| YKHHCAKILS | MFGSTYICEQ | LFSIMKLSKT | KYCSQLKDSQ | WDSVLHIAT |