Q86UP8
PR
Gene name |
GTF2IRD2 (GTF2IRD2A) |
Protein name |
General transcription factor II-I repeat domain-containing protein 2A |
Names |
GTF2I repeat domain-containing protein 2A, Transcription factor GTF2IRD2-alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84163 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q86UP8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86UP8-F1 | Predicted | AlphaFoldDB |
559 variants for Q86UP8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA367971998 rs1218017554 |
3 | Q>L | No |
ClinGen TOPMed |
|
|
CA367971976 rs1256310738 |
7 | S>P | No |
ClinGen TOPMed |
|
|
rs1205546561 CA367971966 |
8 | T>I | No |
ClinGen TOPMed |
|
|
CA367971970 rs1584403625 |
8 | T>P | No |
ClinGen Ensembl |
|
|
rs782585696 CA160167523 |
11 | V>A | No |
ClinGen ExAC |
|
|
rs1482133217 CA367971953 |
11 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 14 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 14 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477459089 CA367971908 |
17 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
TCGA novel rs1190876405 CA367971901 |
18 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA367971895 rs1425223044 |
19 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1554421063 CA367971888 |
20 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367971866 rs1554421062 |
23 | V>G | No |
ClinGen gnomAD |
|
|
rs1584403582 CA367971862 |
24 | T>K | No |
ClinGen Ensembl |
|
|
CA160167517 rs782552111 |
27 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA160167508 rs200003286 |
31 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367971803 rs1563020634 |
33 | M>I | No |
ClinGen Ensembl |
|
|
CA367971808 rs1399987475 |
33 | M>V | No |
ClinGen TOPMed |
|
|
rs1411737843 CA367971783 |
34 | C>* | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367971676 rs1378696240 |
44 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1584401292 CA367971678 |
44 | V>L | No |
ClinGen Ensembl |
|
|
rs1394553568 CA367971635 |
48 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1227393857 CA367971596 |
51 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1227393857 CA367971600 |
51 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA367971561 rs1554420554 |
54 | V>M | No |
ClinGen gnomAD |
|
|
CA367971528 rs1256240902 |
57 | V>I | No |
ClinGen TOPMed |
|
|
rs1584401250 CA367971517 |
58 | G>R | No |
ClinGen Ensembl |
|
|
CA367971507 rs1183190601 |
59 | T>N | No |
ClinGen TOPMed |
|
|
rs1424692727 CA367971498 |
60 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1554420551 CA367971480 |
61 | R>G | No |
ClinGen gnomAD |
|
|
rs1388842931 CA367971374 |
70 | T>A | No |
ClinGen TOPMed |
|
|
rs1169269263 CA367971371 |
70 | T>K | No |
ClinGen TOPMed |
|
|
CA367971369 rs1169269263 |
70 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278368236 CA367970810 |
80 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs781871019 CA367970804 |
81 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367970799 rs782095776 |
82 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1554419350 CA367970782 |
84 | G>E | No |
ClinGen gnomAD |
|
|
CA367970785 CA367970784 rs781817556 |
84 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA367970770 rs1238123729 |
86 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 88 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554419347 CA367970757 |
88 | V>M | No |
ClinGen gnomAD |
|
|
rs372642606 CA367970744 |
90 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 93 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554419343 CA367970723 |
93 | P>S | No |
ClinGen gnomAD |
|
|
CA367970704 rs782411512 |
96 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970685 rs782131960 |
98 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554419338 CA367970680 |
99 | V>I | No |
ClinGen gnomAD |
|
|
CA367970672 rs781990622 |
100 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs781990622 CA367970671 |
100 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs782214571 CA367970663 |
101 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA367970662 rs782214571 |
101 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA367970667 rs782356288 |
101 | S>T | No |
ClinGen ExAC |
|
|
rs375511371 CA10585999 RCV000238958 |
103 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
CA367970643 rs782649594 |
104 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554419313 CA367970610 |
109 | K>R | No |
ClinGen gnomAD |
|
|
CA367970604 rs781834615 |
110 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA367970596 rs782603424 |
111 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367970582 rs587765395 |
113 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367970575 rs1584396140 |
114 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 115 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782805447 CA367970551 |
117 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970543 rs1554419311 |
118 | C>Y | No |
ClinGen gnomAD |
|
|
CA367970537 rs1422871321 |
119 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1554418886 CA367970514 |
120 | G>D | No |
ClinGen gnomAD |
|
|
CA367970505 rs782511632 |
121 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970503 rs1266638256 |
122 | A>T | No |
ClinGen TOPMed |
|
|
CA367970500 rs587617748 |
122 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782746704 CA367970477 |
126 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970471 rs1231851153 |
127 | V>L | No |
ClinGen TOPMed |
|
|
rs781793447 CA367970449 |
130 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970439 rs782806300 |
132 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1178635978 CA367970429 |
133 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200262729 CA367970411 |
135 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1408279872 CA367970398 |
137 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367970394 rs781985333 |
138 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782746034 CA367970393 |
138 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364196712 CA367970376 |
140 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367970369 rs782082645 |
141 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367970367 rs1303836361 |
142 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 142 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782299241 CA367970356 |
144 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA367970346 rs782285924 |
145 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367970344 rs1554418870 |
146 | Q>* | No |
ClinGen gnomAD |
|
|
CA367970340 rs782012882 |
146 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782476504 CA367970318 |
149 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367970320 rs782476504 |
149 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970303 rs782566553 |
152 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554418862 CA367970296 |
153 | A>T | No |
ClinGen gnomAD |
|
|
rs1271665786 CA367970263 |
157 | P>R | No |
ClinGen TOPMed |
|
|
CA367970241 rs1435507361 |
160 | Y>C | No |
ClinGen TOPMed |
|
|
rs1554418853 CA367970236 |
161 | D>N | No |
ClinGen gnomAD |
|
|
rs1554418853 CA367970235 |
161 | D>Y | No |
ClinGen gnomAD |
|
|
CA367970227 rs1443651064 |
162 | L>F | No |
ClinGen TOPMed |
|
|
CA367970221 rs782486009 |
163 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970218 rs781822681 |
163 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970212 rs202076967 |
164 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1164288591 CA367970197 |
167 | W>R | No |
ClinGen TOPMed |
|
|
rs1396422367 CA367970142 |
174 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA367970140 rs1396422367 |
174 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367970138 rs782045754 |
175 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970074 rs1554418819 |
182 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 185 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782311281 CA367970050 |
186 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367970034 rs1334897032 |
188 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1584394223 CA367970017 |
190 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 191 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408579929 CA367970015 |
191 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 194 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367969952 rs1199009228 |
198 | D>E | No |
ClinGen TOPMed |
|
|
CA367969953 rs1320339346 |
198 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367969946 rs1255263946 |
199 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1255263946 CA367969947 |
199 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367969925 rs1554418470 |
202 | S>C | No |
ClinGen gnomAD |
|
|
rs1554418470 CA367969926 |
202 | S>Y | No |
ClinGen gnomAD |
|
|
rs782455312 CA367969922 |
203 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA367969912 rs1183463546 |
204 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367969881 rs1190903990 |
209 | S>G | No |
ClinGen TOPMed |
|
|
rs1165875755 CA367969849 |
211 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367969843 rs1399865517 |
212 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 213 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377553124 CA367969826 |
214 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA367969782 rs1380619607 |
220 | M>I | No |
ClinGen TOPMed |
|
|
CA367969787 rs1282373818 |
220 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1228423656 CA367969766 |
222 | D>V | No |
ClinGen TOPMed |
|
|
rs1554418399 CA367969757 |
224 | G>S | No |
ClinGen gnomAD |
|
|
rs587687750 CA367969693 |
232 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490395816 CA367969639 |
237 | E>A | No |
ClinGen TOPMed |
|
|
rs587630696 CA367969602 |
240 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367969606 rs1204010364 |
240 | D>G | No |
ClinGen TOPMed |
|
|
rs782578135 CA367969424 |
252 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367969428 rs200821956 |
252 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367969403 rs1316711446 |
254 | S>C | No |
ClinGen TOPMed |
|
|
rs1226252166 CA367969338 |
260 | V>I | No |
ClinGen TOPMed |
|
|
CA367969268 rs1251071891 |
265 | L>* | No |
ClinGen TOPMed |
|
|
CA367969256 rs1337908200 |
266 | P>L | No |
ClinGen TOPMed |
|
|
CA367969147 rs1260725820 |
274 | V>L | No |
ClinGen TOPMed |
|
|
CA367969073 rs1194276594 |
280 | N>I | No |
ClinGen TOPMed |
|
|
CA367969076 rs1194276594 |
280 | N>T | No |
ClinGen TOPMed |
|
|
CA367969015 rs1554417454 |
285 | A>D | No |
ClinGen Ensembl |
|
|
rs1268173995 CA367969005 |
286 | E>K | No |
ClinGen TOPMed |
|
|
rs1177548435 CA367968929 |
291 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367967180 rs1554417333 |
297 | S>N | No |
ClinGen gnomAD |
|
|
rs1264861877 CA367967136 |
304 | G>R | No |
ClinGen TOPMed |
|
|
CA367967088 rs1554417329 |
311 | V>I | No |
ClinGen gnomAD |
|
|
CA367966786 rs1337188658 |
350 | V>M | No |
ClinGen TOPMed |
|
|
rs1272011114 CA367966751 |
355 | K>E | No |
ClinGen TOPMed |
|
|
rs1435932389 CA367966679 |
365 | P>A | No |
ClinGen TOPMed |
|
|
rs1554417086 CA367966674 |
366 | G>S | No |
ClinGen gnomAD |
|
|
rs1474857993 CA367966656 |
368 | V>A | No |
ClinGen TOPMed |
|
|
CA367966659 rs1233329317 |
368 | V>L | No |
ClinGen TOPMed |
|
|
rs1554417084 CA367966654 |
369 | V>M | No |
ClinGen gnomAD |
|
|
rs1185118544 CA367966644 |
370 | I>T | No |
ClinGen TOPMed |
|
|
CA367966607 rs1419450087 |
375 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367966595 rs1584385535 |
377 | V>G | No |
ClinGen Ensembl |
|
|
CA367966575 rs1167029108 |
380 | K>M | No |
ClinGen TOPMed |
|
|
CA160166764 rs202074389 |
381 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA367966566 rs1554417078 |
382 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 383 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331314370 CA367966558 |
383 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA367966561 rs1408511494 |
383 | G>S | No |
ClinGen TOPMed |
|
|
CA367966544 rs1371674151 |
385 | L>P | No |
ClinGen TOPMed |
|
|
rs1414762560 CA367966533 |
387 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1291490487 CA367966525 |
388 | S>C | No |
ClinGen TOPMed |
|
|
rs1357516639 CA367966522 |
388 | S>I | No |
ClinGen TOPMed |
|
|
rs1269755624 CA367966466 |
396 | A>S | No |
ClinGen TOPMed |
|
|
CA367966455 rs1584385479 |
398 | E>Q | No |
ClinGen Ensembl |
|
|
rs1554417074 CA367966412 |
403 | T>I | No |
ClinGen gnomAD |
|
|
rs1339319434 CA367965716 |
417 | G>E | No |
ClinGen TOPMed |
|
|
rs2523353 CA4298499 |
419 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554416589 CA367965704 |
419 | R>P | No |
ClinGen gnomAD |
|
|
rs1381745744 CA367965683 |
422 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367965681 rs1381745744 |
422 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1293454030 CA367965673 |
423 | Q>L | No |
ClinGen TOPMed |
|
|
CA367965669 rs1584382230 |
424 | E>K | No |
ClinGen Ensembl |
|
|
CA367965656 rs1309488801 |
426 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1228515908 CA367965651 |
426 | R>H | No |
ClinGen TOPMed |
|
|
rs781878336 CA4298497 |
432 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA367965551 rs1262735156 |
435 | A>E | No |
ClinGen TOPMed |
|
|
rs2523352 CA4298495 |
436 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs2523352 CA367965541 |
436 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 437 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205294527 CA367965517 |
438 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1563009833 CA367965525 |
438 | F>I | No |
ClinGen Ensembl |
|
|
CA4298492 rs199850312 |
439 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4298493 rs199850312 |
439 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs782013357 CA4298490 |
440 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1243705455 CA367965496 |
440 | E>D | No |
ClinGen TOPMed |
|
|
rs782013357 CA4298491 |
440 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs587631033 CA4298489 |
441 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367965487 rs1554416582 |
442 | Q>K | No |
ClinGen gnomAD |
|
|
rs1184267320 CA367965469 |
443 | N>S | No |
ClinGen TOPMed |
|
|
CA4298488 rs147678344 |
445 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs58427114 CA160166608 |
446 | T>P | No |
ClinGen Ensembl |
|
|
rs1584382145 CA367965433 |
447 | C>R | No |
ClinGen Ensembl |
|
|
rs1554416576 CA367965429 |
447 | C>Y | No |
ClinGen gnomAD |
|
|
rs1175332446 CA367965416 |
448 | L>P | No |
ClinGen TOPMed |
|
|
CA367965401 rs1426736393 |
450 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4298486 rs781977874 |
450 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554416572 CA367965344 |
454 | M>T | No |
ClinGen Ensembl |
|
|
TCGA novel rs1554416570 CA367965328 |
456 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA4298484 rs782199111 |
459 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA367965294 rs1554416567 |
459 | E>A | No |
ClinGen gnomAD |
|
|
CA4298483 rs587727876 |
459 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782199111 CA367965296 |
459 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782275982 CA4298481 |
460 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360265838 CA367965273 |
461 | N>D | No |
ClinGen TOPMed |
|
|
CA367965259 rs1287627407 |
462 | L>V | No |
ClinGen TOPMed |
|
|
CA4298478 rs368483974 |
464 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367965236 rs1554416563 |
464 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1554416562 CA367965192 |
469 | N>D | No |
ClinGen gnomAD |
|
|
CA4298477 rs371968894 |
469 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382824518 CA367965174 |
470 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs370776622 CA4298476 |
471 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370776622 CA4298475 |
471 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367965149 rs781900213 |
472 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA367965141 rs1554416557 |
473 | H>R | No |
ClinGen gnomAD |
|
|
CA367965111 rs1343828434 |
475 | D>E | No |
ClinGen TOPMed |
|
|
rs1554416555 CA367965119 |
475 | D>H | No |
ClinGen gnomAD |
|
|
rs782119996 CA4298472 |
476 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782119996 CA367965108 |
476 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781983618 CA4298471 |
476 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4298470 rs782740269 |
478 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA367965083 rs2529321 |
478 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA160166558 rs2529321 |
478 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782088648 CA4298469 |
479 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554416548 CA367965059 |
480 | R>I | No |
ClinGen gnomAD |
|
|
CA160166551 rs781827006 |
481 | M>I | No |
ClinGen Ensembl |
|
|
CA4298466 rs782290129 |
482 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373800942 CA4298465 |
482 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4298467 rs782290129 |
482 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554416540 CA367965027 |
483 | D>Y | No |
ClinGen gnomAD |
|
|
CA4298463 rs782244564 |
484 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298462 rs782599727 |
486 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367964951 rs193204072 |
488 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA160166534 rs193204072 |
488 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs370239041 CA4298460 |
490 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370239041 CA4298459 |
490 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781864976 CA4298456 |
495 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4298455 rs149820725 |
497 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2529320 CA1717696160 |
500 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA160166516 rs2529320 |
500 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782059784 CA4298451 |
501 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA4298450 rs781911392 |
504 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4298448 rs139908522 |
507 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367964619 rs1554416521 |
509 | K>N | No |
ClinGen gnomAD |
|
|
rs1317397817 CA367964613 |
510 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4298447 rs781988379 |
511 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2529318 CA1717696144 |
514 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_039127 rs2529318 CA160166497 |
514 | N>H | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs2529318 CA1717696143 |
514 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367964529 rs1288879118 |
516 | S>R | No |
ClinGen TOPMed |
|
|
rs1490696293 CA367964511 |
517 | P>Q | No |
ClinGen TOPMed |
|
|
rs1554416513 CA367964513 |
517 | P>S | No |
ClinGen gnomAD |
|
|
rs1222845120 CA367964486 |
518 | T>I | No |
ClinGen TOPMed |
|
|
CA367964463 rs1554416508 |
520 | K>E | No |
ClinGen gnomAD |
|
|
rs782064924 CA4298444 |
521 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1231932486 CA367964447 |
521 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367964419 rs1175807341 |
523 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4298443 rs781919823 |
526 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782278911 CA4298441 |
531 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782634307 CA4298439 |
536 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782372196 CA4298438 |
538 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376097427 CA4298437 |
538 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1426607907 CA367964209 |
540 | K>E | No |
ClinGen TOPMed |
|
|
rs1554416499 CA367964187 |
541 | I>M | No |
ClinGen gnomAD |
|
|
rs1554416500 CA367964191 |
541 | I>T | No |
ClinGen TOPMed |
|
|
CA367964179 rs1554416498 |
542 | R>M | No |
ClinGen gnomAD |
|
|
rs1554416496 CA367964167 |
543 | S>C | No |
ClinGen gnomAD |
|
|
rs1324507032 CA367964119 |
547 | Y>H | No |
ClinGen TOPMed |
|
|
CA4298434 rs782605189 |
549 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298433 rs782452804 |
550 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299614005 CA367964059 |
550 | A>V | No |
ClinGen TOPMed |
|
|
CA367964055 rs1554416493 |
551 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782537460 CA4298430 |
554 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1377562943 CA367963980 |
555 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367963931 rs1584381773 |
558 | N>D | No |
ClinGen Ensembl |
|
|
rs1246031338 CA367963925 |
558 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367963818 rs1435663872 |
565 | I>V | No |
ClinGen TOPMed |
|
|
rs1554416487 CA367963795 |
566 | F>C | No |
ClinGen gnomAD |
|
|
rs782101818 CA4298426 |
568 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4298425 rs587669464 |
568 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1458489419 CA367963759 |
569 | G>D | No |
ClinGen TOPMed |
|
|
CA4298424 rs782704624 |
569 | G>R | No |
ClinGen ExAC |
|
|
rs587728542 CA367963729 |
571 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587728542 CA4298422 |
571 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 572 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4298416 rs781925131 |
575 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587596084 CA4298417 |
575 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782332564 CA367963657 |
575 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782332564 CA4298418 |
575 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782332564 CA4298419 |
575 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 576 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782289207 CA367963628 |
577 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782289207 CA4298414 |
577 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367963612 rs1554416474 |
578 | E>K | No |
ClinGen gnomAD |
|
|
CA367963614 rs1554416474 |
578 | E>Q | No |
ClinGen gnomAD |
|
|
CA4298413 rs587711654 |
580 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4298412 rs782506734 |
580 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA367963581 rs587711654 |
580 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4298409 rs782613471 |
583 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs782613471 CA4298410 |
583 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4298407 rs782784746 |
585 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA367963513 rs1448148880 |
585 | P>L | No |
ClinGen TOPMed |
|
|
CA4298406 rs782784746 |
585 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4298404 rs372463997 |
586 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367963510 rs1554416468 |
586 | M>L | No |
ClinGen gnomAD |
|
|
rs2523349 CA4298405 |
586 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA367963508 rs1554416468 |
586 | M>V | No |
ClinGen gnomAD |
|
|
rs782741186 CA4298403 |
587 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298402 rs782079382 |
588 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554416463 CA367963471 |
588 | G>C | No |
ClinGen gnomAD |
|
|
CA367963424 rs1554416462 |
591 | S>A | No |
ClinGen gnomAD |
|
|
rs1554416460 CA367963402 |
592 | G>S | No |
ClinGen gnomAD |
|
|
CA4298401 rs782711179 |
593 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298399 rs2257861 |
597 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298397 rs201888085 |
598 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201888085 CA4298398 |
598 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4298395 rs781975493 |
599 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4298396 rs782250011 |
599 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1554416454 CA367963274 |
601 | K>E | No |
ClinGen gnomAD |
|
|
CA367963269 rs1463004620 |
601 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA160166288 rs707394 CA1103172258 |
605 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1554416448 | 606 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374046700 CA4298391 |
606 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 607 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367963204 rs1474460201 |
609 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs2257859 CA4298389 |
609 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4298388 rs782628596 |
610 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA367963164 rs1584381572 |
611 | S>L | No |
ClinGen Ensembl |
|
|
rs2257858 CA4298385 |
612 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs2257858 CA4298386 |
612 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1469130480 CA367963140 |
613 | L>V | No |
ClinGen TOPMed |
|
|
rs781909153 CA4298383 |
615 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298382 rs782788581 |
616 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782129568 CA4298381 |
619 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs781991065 CA4298380 |
621 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1554416432 CA367962990 |
623 | A>T | No |
ClinGen gnomAD |
|
|
rs782090520 CA4298378 |
623 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4298376 rs782418309 |
624 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4298375 rs146184113 |
625 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432257704 CA367962914 |
626 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA367962925 rs1554416428 |
626 | D>N | No |
ClinGen gnomAD |
|
|
rs1432257704 CA367962916 |
626 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782361982 CA4298373 |
628 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782226899 CA4298372 |
630 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298371 rs782601578 |
631 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367962797 rs1554416420 |
632 | V>I | No |
ClinGen gnomAD |
|
|
rs1284156215 CA367962767 |
634 | K>E | No |
ClinGen TOPMed |
|
|
CA4298370 rs782323274 |
636 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 636 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587627714 CA4298368 |
640 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367962617 rs781871289 |
641 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298366 rs781871289 |
641 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367962574 rs1197018458 |
643 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA367962578 rs1197018458 |
643 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA367962551 rs1431245148 |
644 | K>N | No |
ClinGen TOPMed |
|
|
rs375442507 CA4298363 |
645 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4298364 rs782486751 |
645 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs782486751 CA367962547 |
645 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA367962543 rs375442507 |
645 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554416413 CA367962532 |
646 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 649 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367962484 rs1298216398 |
649 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367962458 rs587649244 |
651 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4298361 rs587649244 |
651 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554416410 CA367962424 |
653 | C>Y | No |
ClinGen gnomAD |
|
|
CA4298358 rs782105691 |
657 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 658 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2527357 CA367962374 |
658 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367962354 rs1234384809 |
659 | S>* | No |
ClinGen TOPMed |
|
|
rs1554416406 CA367962335 |
661 | C>G | No |
ClinGen gnomAD |
|
|
CA367962323 rs1279519571 |
662 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367962127 rs1218903053 |
665 | L>V | No |
ClinGen TOPMed |
|
|
CA367962073 rs1490204903 |
669 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1220606872 CA367962058 |
670 | V>D | No |
ClinGen TOPMed |
|
|
CA367962041 rs1452002810 |
671 | M>I | No |
ClinGen TOPMed |
|
|
CA4298357 rs781966577 |
671 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367962022 rs1554416399 |
673 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4298355 rs587755405 |
675 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1554416396 CA367961971 |
677 | S>F | No |
ClinGen gnomAD |
|
|
rs1554416394 CA367961951 |
679 | N>S | No |
ClinGen gnomAD |
|
|
CA367961931 rs1554416388 |
680 | W>C | No |
ClinGen gnomAD |
|
|
CA4298352 rs782282849 |
681 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782197030 CA367961882 |
684 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298350 rs782197030 |
684 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298351 rs148277837 |
684 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782234670 CA4298349 |
685 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4298347 rs587697233 |
686 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1304625203 CA367961802 |
690 | E>D | No |
ClinGen TOPMed |
|
|
CA160166216 rs782546401 |
691 | F>L | No |
ClinGen Ensembl |
|
|
rs1554416384 CA367961781 |
692 | T>K | No |
ClinGen gnomAD |
|
|
CA367961778 rs1584381337 |
693 | T>P | No |
ClinGen Ensembl |
|
|
rs587644893 CA4298346 |
694 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781847630 CA4298343 |
698 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA367961711 rs1584381314 |
699 | D>A | No |
ClinGen Ensembl |
|
|
rs782079811 CA4298341 |
705 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4298340 rs781802710 |
706 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs143204903 CA4298338 |
707 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4298339 rs782688021 |
707 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782021966 CA4298337 |
709 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267485322 CA367961528 |
712 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1357253737 CA367961509 |
713 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1195020011 CA367961488 |
715 | S>R | No |
ClinGen TOPMed |
|
|
rs1554416371 CA367961480 |
715 | S>T | No |
ClinGen gnomAD |
|
|
rs12375120 CA4298335 |
716 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367961462 rs1458918408 |
716 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1554416367 CA367961450 |
717 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201000946 CA160166188 |
718 | L>F | No |
ClinGen gnomAD |
|
|
rs1242420274 CA367961427 |
719 | V>L | No |
ClinGen TOPMed |
|
|
rs1368699313 CA367961372 |
723 | F>L | No |
ClinGen TOPMed |
|
|
rs1461110634 CA367961343 |
725 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367961312 rs1165785957 |
726 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA367961324 rs1554416358 |
726 | S>T | No |
ClinGen gnomAD |
|
|
CA367961215 rs1394854120 |
732 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 732 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367961199 rs1449434067 |
733 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA367961188 rs1554416353 |
734 | M>L | No |
ClinGen gnomAD |
|
|
rs1584381195 CA367961108 |
739 | K>N | No |
ClinGen Ensembl |
|
|
CA367961050 rs1322403630 |
743 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1227045278 CA367961025 |
745 | S>I | No |
ClinGen TOPMed |
|
|
CA367961004 rs1554416346 |
746 | S>C | No |
ClinGen gnomAD |
|
|
rs781965674 CA4298333 |
749 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA367960965 rs1584381173 |
749 | W>R | No |
ClinGen Ensembl |
|
|
CA4298332 rs782348828 |
751 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782198872 CA4298331 |
752 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA367960879 rs1198997451 |
755 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367960874 rs1554416340 |
755 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 758 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 759 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367960812 rs587728502 |
759 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4298330 rs587728502 |
759 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554416336 CA367960781 |
760 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4298329 rs587694397 |
760 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256329278 CA367960703 |
764 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367960699 rs2527356 |
765 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 765 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4298328 rs587609982 |
767 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 768 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782627580 CA4298327 |
768 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782481896 CA4298326 |
768 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782574685 CA4298324 |
771 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1554416315 CA367960584 |
772 | G>E | No |
ClinGen gnomAD |
|
|
CA4298323 rs782447734 |
772 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs587741449 CA4298322 |
775 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380046187 CA367960522 |
776 | I>M | No |
ClinGen TOPMed |
|
|
rs1342556766 CA367960515 |
777 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA367960517 rs1293746970 |
777 | V>F | No |
ClinGen TOPMed |
|
|
CA367960521 rs1293746970 |
777 | V>L | No |
ClinGen TOPMed |
|
|
CA367960504 rs1554416307 |
778 | T>P | No |
ClinGen gnomAD |
|
|
rs1554416303 CA367960477 |
779 | Q>H | No |
ClinGen gnomAD |
|
|
rs782810667 CA4298321 |
781 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1554416302 CA367960447 |
781 | Y>N | No |
ClinGen gnomAD |
|
|
CA4298320 rs781860176 |
782 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282322422 CA367960424 |
782 | D>H | No |
ClinGen TOPMed |
|
|
rs1282322422 CA367960427 |
782 | D>N | No |
ClinGen TOPMed |
|
|
rs781946067 CA4298316 |
785 | R>Q | No |
ClinGen ExAC |
|
|
CA4298314 rs199564124 |
786 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782374121 CA4298311 |
789 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4298310 rs782225694 |
790 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs781947967 CA4298309 |
790 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554416282 CA367960259 |
792 | C>F | No |
ClinGen gnomAD |
|
|
rs782182991 CA4298307 |
793 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298305 rs782688906 |
794 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782688906 CA367960225 |
794 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298304 rs782525956 |
797 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782262891 CA4298303 |
799 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296356945 CA367960120 |
801 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs587627370 CA4298301 |
802 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367960077 rs1400909211 |
804 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4298299 rs377337762 |
808 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367960005 rs1343461205 |
809 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367959953 rs1554416274 |
812 | A>V | No |
ClinGen gnomAD |
|
|
CA367959931 rs1554416273 |
814 | R>K | No |
ClinGen gnomAD |
|
|
CA367959886 rs1220704728 |
817 | S>G | No |
ClinGen TOPMed |
|
|
rs782444604 CA4298298 |
817 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367959867 rs1236267082 |
818 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1236267082 CA367959869 |
818 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367959817 rs1221348464 |
821 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367959799 rs1266292510 |
822 | Y>C | No |
ClinGen TOPMed |
|
|
rs1554416261 CA367959788 |
823 | I>L | No |
ClinGen gnomAD |
|
|
rs782104903 CA4298295 |
824 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554416259 CA367959760 |
825 | K>Q | No |
ClinGen gnomAD |
|
|
CA367959726 rs146532025 |
826 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782721659 CA4298293 |
827 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782067998 CA4298292 |
827 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA160166046 rs142434912 |
830 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201245495 CA160166045 |
838 | S>C | No |
ClinGen Ensembl |
|
|
rs587629467 CA4298290 |
840 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554416249 CA367959515 |
841 | K>Q | No |
ClinGen Ensembl |
|
|
CA367959469 rs782146728 |
843 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs782002293 CA367959461 |
844 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782382463 CA4298287 |
844 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs782002293 CA4298288 |
844 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782225841 CA4298286 |
845 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA367959428 rs782611400 |
846 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782611400 CA4298285 |
846 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554416242 CA367959414 |
847 | L>V | No |
ClinGen gnomAD |
|
|
CA367959396 rs1554416239 |
848 | T>S | No |
ClinGen gnomAD |
|
|
rs1302816985 CA367959389 |
849 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782333352 CA4298283 |
850 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782542729 CA4298281 |
853 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4298280 rs782542729 |
853 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367959270 rs1554416233 |
856 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554416227 CA367959252 |
857 | K>N | No |
ClinGen gnomAD |
|
|
rs1289172242 CA367959244 |
858 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1554416224 CA367959195 |
861 | V>G | No |
ClinGen gnomAD |
|
|
rs1323090272 CA367959184 |
862 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367959094 rs1224245976 |
867 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367959104 rs1554416221 |
867 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 871 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2529315 CA367958925 |
876 | T>A | No |
ClinGen Ensembl |
|
|
CA367958915 rs1480502435 |
876 | T>M | No |
ClinGen TOPMed |
|
|
CA367958912 rs1240537761 |
877 | V>L | No |
ClinGen TOPMed |
|
|
CA4298278 rs782605992 |
879 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 880 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367958820 rs1554416215 |
883 | D>H | No |
ClinGen gnomAD |
|
|
rs1584380798 CA367958803 |
884 | K>E | No |
ClinGen Ensembl |
|
|
rs587656550 CA4298277 |
886 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1407225265 CA367958756 |
887 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1165738590 CA367958687 |
891 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367958670 rs1353760217 |
892 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367958649 rs1554416210 |
893 | Y>C | No |
ClinGen gnomAD |
|
|
CA367958614 rs1554416200 |
895 | W>* | No |
ClinGen gnomAD |
|
|
CA160166013 rs587599218 |
895 | W>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA367958608 rs587599218 |
895 | W>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA367958617 rs1554416200 |
895 | W>L | No |
ClinGen gnomAD |
|
|
rs1377488244 CA367958593 |
896 | G>V | No |
ClinGen TOPMed |
|
|
CA367958587 rs1554416199 |
897 | S>G | No |
ClinGen gnomAD |
|
|
CA160166006 rs587725166 |
898 | Y>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1554416198 CA367958548 |
899 | P>S | No |
ClinGen gnomAD |
|
|
rs1380699181 CA367958506 CA367958509 |
901 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1228587225 CA367958480 |
903 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1554416194 CA367958436 |
906 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 907 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367958400 rs1554416190 |
908 | I>V | No |
ClinGen TOPMed |
|
|
rs1271825037 CA367958371 |
910 | S>P | No |
ClinGen TOPMed |
|
|
CA367958355 rs1307324327 |
911 | M>L | No |
ClinGen TOPMed |
|
|
CA367958358 rs1307324327 |
911 | M>V | No |
ClinGen TOPMed |
|
|
CA367958309 rs1260570574 |
913 | G>E | No |
ClinGen TOPMed |
|
|
rs1554416185 CA367958251 |
917 | I>F | No |
ClinGen gnomAD |
|
|
CA367958234 rs1554416184 |
918 | C>Y | No |
ClinGen gnomAD |
|
|
rs1473806600 CA367958224 |
919 | E>K | No |
ClinGen TOPMed |
|
|
CA367958222 rs1473806600 |
919 | E>Q | No |
ClinGen TOPMed |
|
|
rs1563008720 CA367958169 |
922 | F>S | No |
ClinGen Ensembl |
|
|
rs1419029773 CA367957991 |
932 | Y>H | No |
ClinGen TOPMed |
|
|
CA367957925 rs1554416179 |
935 | Q>* | No |
ClinGen TOPMed |
|
|
rs1554416178 CA367957915 |
935 | Q>L | No |
ClinGen gnomAD |
|
|
CA367957883 rs1400949889 |
937 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 944 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332096899 CA367957747 |
945 | L>V | No |
ClinGen TOPMed |
|
|
rs1554416176 CA367957731 |
946 | H>Y | No |
ClinGen gnomAD |
|
|
rs1337891696 CA367957677 |
949 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1554416171 CA367957672 |
950 | T>R | No |
ClinGen gnomAD |
1 associated diseases with Q86UP8
Without disease ID
2 regional properties for Q86UP8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | GTF2I-like repeat | 98 - 192 | IPR004212-1 |
| repeat | GTF2I-like repeat | 323 - 417 | IPR004212-2 |
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 |
| Q6EKJ0 | GTF2IRD2B | General transcription factor II-I repeat domain-containing protein 2B | 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 | SKHYDQYMER |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MRDEKLHELK | KGLRKYLLGS | SDTECPEQKQ | VFANPSPTQK | SPVQPVEDLA | GNLWEKLREK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IRSFVAYSIA | IDEITDINNT | TQLAIFIRGV | DENFDVSEEL | LDTVPMTGTK | SGNEIFSRVE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KSLKNFCIDW | SKLVSVASTG | 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 | LASRNESDGL | NYIPKIAELQ | TEFQKRLSDF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KLYESELTLF | SSPFSTKIDS | VHEELQMEVI | DLQCNTVLKT | KYDKVGIPEF | YKYLWGSYPK |
| 910 | 920 | 930 | 940 | ||
| YKHHCAKILS | MFGSTYICEQ | LFSIMKLSKT | KYCSQLKDSQ | WDSVLHIAT |