P78347
PR
Gene name |
GTF2I (BAP135, WBSCR6) |
Protein name |
General transcription factor II-I |
Names |
GTFII-I, TFII-I, Bruton tyrosine kinase-associated protein 135, BAP-135, BTK-associated protein 135, SRF-Phox1-interacting protein, SPIN, Williams-Beuren syndrome chromosomal region 6 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2969 |
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
5 structures for P78347
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2D9B | NMR | - | A | 102-197 | PDB |
| 2DN4 | NMR | - | A | 361-446 | PDB |
| 2ED2 | NMR | - | A | 466-551 | PDB |
| 2EJE | NMR | - | A | 854-954 | PDB |
| AF-P78347-F1 | Predicted | AlphaFoldDB |
347 variants for P78347
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554396182 CA367993929 |
4 | V>A | No |
ClinGen gnomAD |
|
|
CA367993942 rs1437851275 |
5 | A>G | No |
ClinGen TOPMed |
|
|
rs1554396198 CA367993958 |
6 | M>I | No |
ClinGen Ensembl |
|
|
rs781807761 CA4297447 |
6 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA367993948 rs1554396193 |
6 | M>V | No |
ClinGen Ensembl |
|
|
CA367993966 rs1554396201 |
8 | T>A | No |
ClinGen gnomAD |
|
|
CA367993971 rs1554396209 |
9 | L>I | No |
ClinGen gnomAD |
|
|
rs782767960 CA4297452 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4297454 rs782542929 |
11 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA160867863 rs971361460 |
14 | E>A | No |
ClinGen Ensembl |
|
|
rs1178011726 CA367994008 |
14 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782177453 CA4297456 |
17 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451194266 CA367994059 CA367994058 |
21 | M>I | No |
ClinGen TOPMed |
|
|
CA4297459 rs782238246 |
21 | M>V | No |
ClinGen ExAC |
|
|
rs1554396243 CA367994088 |
26 | L>F | No |
ClinGen Ensembl |
|
|
rs1554396246 CA367994092 |
27 | M>L | No |
ClinGen gnomAD |
|
|
CA4297462 rs782199279 |
27 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554396253 CA367994137 |
33 | M>T | No |
ClinGen Ensembl |
|
|
rs587739841 CA160868017 |
41 | K>E | No |
ClinGen 1000Genomes |
|
|
CA4297483 rs782225301 |
41 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs201580003 CA160868018 |
42 | A>G | No |
ClinGen 1000Genomes |
|
|
rs1554396888 CA367994248 |
47 | I>V | No |
ClinGen gnomAD |
|
|
rs782022638 CA4297488 |
53 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368759932 CA160868019 |
54 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA367994305 rs979904437 |
55 | F>L | No |
ClinGen gnomAD |
|
|
CA367994308 rs1261533732 |
56 | V>L | No |
ClinGen TOPMed |
|
|
CA367994317 rs1283124989 |
57 | V>A | No |
ClinGen TOPMed |
|
|
CA367994313 rs1486175636 |
57 | V>I | No |
ClinGen TOPMed |
|
|
CA160868021 rs924091625 |
63 | R>C | No |
ClinGen gnomAD |
|
|
rs781967568 CA4297491 |
63 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA367994371 rs1309950856 |
66 | V>L | No |
ClinGen TOPMed |
|
|
CA4297492 rs782088030 |
67 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA367994379 rs1562952944 |
67 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 75 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 77 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4297495 rs782142169 |
78 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367994462 rs1554396930 |
78 | K>T | No |
ClinGen gnomAD |
|
|
rs200063075 CA4297507 |
81 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367994522 rs1245840914 |
83 | E>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 90 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367994574 rs1323681403 |
90 | M>T | No |
ClinGen TOPMed |
|
|
rs868917188 CA367994578 |
91 | H>N | No |
ClinGen Ensembl |
|
|
CA367994595 rs1554399155 |
93 | M>V | No |
ClinGen gnomAD |
|
|
CA367994615 rs1554399160 |
95 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782230656 CA4297511 |
96 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367994623 rs1554399163 |
97 | T>A | No |
ClinGen gnomAD |
|
|
rs1554399167 CA367994644 |
100 | N>H | No |
ClinGen gnomAD |
|
|
CA367994650 rs782003787 |
101 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782120808 CA4297514 |
101 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297513 rs782003787 |
101 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367994665 rs1445142239 |
103 | S>N | No |
ClinGen TOPMed |
|
|
rs906057032 CA160868701 |
104 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4297515 rs782413639 |
105 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1458112170 CA367994682 |
106 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053566327 CA160868702 |
108 | E>K | No |
ClinGen Ensembl |
|
|
CA367994703 rs1369813298 |
109 | I>L | No |
ClinGen TOPMed |
|
|
RCV000489869 rs150259949 CA160868703 |
119 | Y>C | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA4297518 rs782737598 |
119 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1554399211 CA367994798 |
122 | F>Y | No |
ClinGen gnomAD |
|
|
rs782799288 CA4297539 |
128 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA367994994 rs1584187902 |
130 | K>R | No |
ClinGen Ensembl |
|
|
rs781795612 CA160868784 |
131 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 132 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4297541 rs782057203 |
133 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA367995040 rs1378271459 |
134 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064765 CA160868787 |
143 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4297545 rs1064765 |
143 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs145729076 CA4297546 |
143 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4297548 CA4297547 rs782450205 |
145 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs782481420 CA4297550 |
146 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297549 rs782228824 |
146 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782411031 CA367995208 |
148 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782411031 CA4297553 |
148 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs782015737 CA4297554 |
151 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782204993 CA4297555 |
154 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782793898 CA4297559 |
158 | A>V | No |
ClinGen ExAC |
|
|
rs781788087 CA4297563 |
163 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs587656081 CA4297562 |
163 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367995403 rs1554399541 |
164 | N>Y | No |
ClinGen gnomAD |
|
|
CA367995451 rs1554399550 |
167 | L>H | No |
ClinGen gnomAD |
|
|
rs1417416844 CA367995444 |
167 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 168 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA160868788 rs990392390 |
173 | I>V | No |
ClinGen Ensembl |
|
|
rs1057896 VAR_051026 CA160868789 |
174 | L>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA160868790 rs1135648 |
178 | A>G | No |
ClinGen Ensembl |
|
|
rs1249824042 CA367995562 |
182 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1489561711 CA367995579 |
185 | K>E | No |
ClinGen TOPMed |
|
|
rs1259679158 CA367995607 |
187 | P>S | No |
ClinGen TOPMed |
|
|
CA4297590 rs782702015 |
194 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA367995660 rs1554399641 |
194 | H>L | No |
ClinGen gnomAD |
|
|
rs782702015 CA367995657 |
194 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs147069558 CA4297591 |
194 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA160868800 rs782431867 |
195 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4297611 rs781936472 |
196 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs373330111 CA4297612 |
197 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163463075 CA367995695 |
198 | R>C | No |
ClinGen TOPMed |
|
|
CA4297613 rs202085514 |
198 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 199 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4297615 rs782134662 |
202 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781911148 CA4297617 |
204 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781911148 CA4297618 |
204 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297619 rs782580708 |
206 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4297620 rs781834137 |
206 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4297622 rs368674948 |
207 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs587751698 CA4297621 |
207 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554401029 CA367995768 |
210 | S>Y | No |
ClinGen gnomAD |
|
|
CA367995771 rs1554401032 |
211 | P>T | No |
ClinGen gnomAD |
|
|
CA160869174 rs886875869 |
212 | G>S | No |
ClinGen TOPMed |
|
|
CA367995786 rs1554401036 |
213 | G>A | No |
ClinGen gnomAD |
|
|
CA160869265 rs1049146200 |
217 | P>S | No |
ClinGen gnomAD |
|
|
CA367995834 rs1554401414 |
218 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554401416 CA367995840 |
219 | K>I | No |
ClinGen gnomAD |
|
|
CA367995880 rs1554401421 |
225 | T>I | No |
ClinGen gnomAD |
|
|
rs782450272 CA4297645 |
227 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs782564844 CA4297646 |
228 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554401426 CA367995901 |
228 | S>C | No |
ClinGen gnomAD |
|
|
rs143885919 CA4297667 |
230 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367942718 rs1554402418 |
231 | S>F | No |
ClinGen gnomAD |
|
|
CA4297668 rs781878557 |
232 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367942741 rs1554402432 |
235 | A>P | No |
ClinGen gnomAD |
|
|
rs1554402435 CA367942746 |
236 | A>T | No |
ClinGen gnomAD |
|
|
CA4297670 rs782675626 |
238 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554402445 CA367943235 |
251 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA160161355 rs199687489 |
251 | Y>D | No |
ClinGen Ensembl |
|
|
CA367944206 rs782392915 |
261 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782167572 CA4297707 |
263 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781987759 CA4297706 |
263 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782406901 CA4297708 |
264 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782057494 CA4297710 |
266 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1584254100 CA367944304 |
267 | Q>H | No |
ClinGen Ensembl |
|
|
rs781866719 CA4297712 |
270 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781866719 CA367944347 |
270 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs374288797 CA4297714 |
271 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs374288797 CA4297715 |
271 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367944406 rs1284748851 |
275 | G>R | No |
ClinGen TOPMed |
|
|
CA367944504 rs1554403740 |
277 | H>N | No |
ClinGen gnomAD |
|
|
CA367944530 rs1554403745 |
278 | H>Q | No |
ClinGen gnomAD |
|
|
rs1554403742 CA367944521 |
278 | H>Y | No |
ClinGen gnomAD |
|
|
rs781919341 CA4297733 |
282 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4297738 rs782819986 |
290 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1562971347 CA367944743 |
291 | P>T | No |
ClinGen Ensembl |
|
| rs782589088 | 293 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554404076 CA367945255 |
295 | S>F | No |
ClinGen gnomAD |
|
|
rs1554404078 CA367945261 |
296 | T>N | No |
ClinGen gnomAD |
|
|
rs1554404077 CA367945260 |
296 | T>S | No |
ClinGen gnomAD |
|
|
CA367945271 rs1554404079 |
297 | Q>H | No |
ClinGen gnomAD |
|
|
CA160164291 rs951680847 |
299 | V>A | No |
ClinGen TOPMed |
|
|
CA4297751 rs202059251 |
299 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781952004 CA4297752 |
300 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs201733311 CA160164302 |
303 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1554404092 CA367945338 |
308 | E>K | No |
ClinGen gnomAD |
|
|
rs1554404093 CA367945363 |
311 | V>E | No |
ClinGen gnomAD |
|
|
rs782779434 CA4297754 |
313 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4297753 rs782130738 |
313 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367946302 rs1554406188 |
316 | D>G | No |
ClinGen gnomAD |
|
|
rs1554406191 CA367946316 |
318 | Y>D | No |
ClinGen gnomAD |
|
|
CA367946339 rs1554406192 |
321 | P>L | No |
ClinGen gnomAD |
|
|
CA367946406 rs1554406198 |
331 | P>L | No |
ClinGen gnomAD |
|
|
rs1195145913 CA367946438 |
336 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554406202 CA367946454 |
339 | A>T | No |
ClinGen Ensembl |
|
|
CA367946460 rs1466700180 |
340 | N>H | No |
ClinGen TOPMed |
|
|
CA367946464 rs1251817960 |
340 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1337735458 CA367946645 |
364 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 374 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4297765 rs782443780 |
375 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs782608384 CA4297766 |
378 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782215532 CA4297767 |
382 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782631790 CA4297769 |
384 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297773 rs782048314 |
388 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 390 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA160167621 rs1614448 |
391 | Q>* | No |
ClinGen gnomAD |
|
|
CA367946989 rs1584314777 |
397 | L>V | No |
ClinGen Ensembl |
|
|
CA367947037 rs1562983465 |
400 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 400 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 401 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782139658 CA4297776 |
412 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA842145766 rs1404561582 |
414 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1417975794 CA367947292 |
420 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782059244 CA4297779 |
430 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4297780 rs782683917 |
430 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562983524 CA367947499 |
434 | K>N | No |
ClinGen Ensembl |
|
|
CA4297798 rs782319002 |
437 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554407201 CA367947591 |
438 | L>V | No |
ClinGen Ensembl |
|
|
rs1135649 CA4297799 |
440 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4297801 rs782742467 |
441 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782742467 CA367947619 |
441 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367947629 rs1554407205 |
442 | T>A | No |
ClinGen gnomAD |
|
|
CA4297802 rs587719538 |
443 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4297803 rs782113008 |
443 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1554407207 CA367947750 |
450 | K>N | No |
ClinGen gnomAD |
|
|
rs1554407395 CA367947860 |
464 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584321161 CA367948199 |
491 | P>L | No |
ClinGen Ensembl |
|
|
CA367948477 rs1554407468 |
528 | I>V | No |
ClinGen TOPMed |
|
|
CA367948507 rs1472417767 |
532 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4297826 rs781923720 |
544 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4297827 rs782103148 |
546 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297828 rs782735877 |
546 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554407674 CA367948630 |
549 | T>A | No |
ClinGen gnomAD |
|
|
CA4297830 rs782521291 |
549 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367948649 rs1554407677 |
552 | T>A | No |
ClinGen gnomAD |
|
|
rs141809495 CA4297831 |
553 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367948659 CA4297832 rs781797507 |
553 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297834 rs782615736 |
556 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4297836 rs782516515 |
558 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782637508 CA4297837 |
559 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1439328322 CA367949179 |
561 | K>R | No |
ClinGen TOPMed |
|
|
CA367949212 rs1270640072 |
565 | N>S | No |
ClinGen TOPMed |
|
|
CA367949240 rs1554408523 |
569 | T>S | No |
ClinGen gnomAD |
|
|
rs782552411 CA4297855 |
572 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367949256 rs1554408524 |
572 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 577 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 581 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354973364 CA367949338 |
583 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200729390 CA4297857 |
587 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1554408829 CA367949436 |
596 | P>L | No |
ClinGen gnomAD |
|
|
CA367949435 rs1554408829 |
596 | P>R | No |
ClinGen gnomAD |
|
|
rs1554408832 CA367949439 |
597 | Y>H | No |
ClinGen gnomAD |
|
|
rs1554408833 CA367949447 |
598 | P>A | No |
ClinGen gnomAD |
|
|
CA367949481 rs1584336186 |
603 | N>H | No |
ClinGen Ensembl |
|
|
rs1554408837 CA367949493 |
604 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554408837 CA367949492 |
604 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1554408835 CA367949490 |
604 | P>S | No |
ClinGen gnomAD |
|
|
CA4297859 rs201985028 |
607 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554408844 CA367949558 |
614 | E>Q | No |
ClinGen gnomAD |
|
|
rs782219254 CA367949579 |
617 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782219254 CA4297862 |
617 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554408856 CA367949592 |
619 | R>* | No |
ClinGen gnomAD |
|
|
rs782305536 CA4297865 |
619 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1554408858 CA367949602 |
620 | S>R | No |
ClinGen gnomAD |
|
|
rs782412315 CA4297866 |
622 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA367949647 rs1554408861 |
627 | P>L | No |
ClinGen gnomAD |
|
|
CA367949651 rs1554408866 |
628 | R>* | No |
ClinGen gnomAD |
|
|
CA367949652 rs1554408868 |
628 | R>Q | No |
ClinGen gnomAD |
|
|
rs782334160 CA4297869 |
632 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4297871 rs139477988 |
633 | V>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA4297872 rs587647930 |
634 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367949689 rs1554408877 |
634 | R>H | No |
ClinGen gnomAD |
|
|
rs782067111 CA4297874 |
635 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297875 rs782708791 |
636 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA367949743 rs1554408879 |
642 | V>I | No |
ClinGen gnomAD |
|
|
rs782339150 CA160168393 |
646 | P>S | No |
ClinGen Ensembl |
|
|
CA4297889 rs782253272 |
647 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA367949807 rs1554409026 |
650 | I>V | No |
ClinGen gnomAD |
|
|
CA367949824 rs1554409033 |
652 | Y>C | No |
ClinGen gnomAD |
|
|
CA367949820 rs1554409030 |
652 | Y>D | No |
ClinGen gnomAD |
|
|
CA160168397 rs587597791 |
655 | P>H | No |
ClinGen 1000Genomes |
|
|
rs782031290 CA4297891 |
656 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA367949861 rs1554409041 |
658 | A>S | No |
ClinGen gnomAD |
|
|
CA367949901 rs1330426057 |
663 | T>I | No |
ClinGen TOPMed |
|
|
rs1554409043 CA367949903 |
664 | K>E | No |
ClinGen gnomAD |
|
|
rs782325579 CA4297893 |
664 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367949977 rs1554409118 |
673 | R>Q | No |
ClinGen gnomAD |
|
|
CA367950077 rs1250627760 |
688 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782621842 CA4297912 |
693 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367950165 rs1584343418 |
698 | T>I | No |
ClinGen Ensembl |
|
|
CA367950186 rs1221518361 |
702 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA367950190 rs1488726890 |
703 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1554409427 CA367950192 |
703 | T>I | No |
ClinGen gnomAD |
|
|
CA367950200 rs1554409431 |
704 | P>L | No |
ClinGen gnomAD |
|
|
rs200224470 CA4297913 |
707 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554409438 CA367950228 |
709 | G>S | No |
ClinGen gnomAD |
|
|
CA367950248 rs1344216605 |
712 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367950249 rs1344216605 |
712 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367950283 rs1401055646 |
717 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1411232624 CA367950353 |
725 | A>S | No |
ClinGen TOPMed |
|
|
rs1199881888 CA367950414 |
730 | I>V | No |
ClinGen TOPMed |
|
|
rs1322085555 CA367950817 |
760 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367950966 rs1228687461 |
770 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1307717022 CA367951153 |
784 | S>L | No |
ClinGen TOPMed |
|
|
rs1554409610 CA367951200 |
789 | P>L | No |
ClinGen gnomAD |
|
|
rs1363861905 CA367951394 |
805 | I>V | No |
ClinGen TOPMed |
|
|
CA367951556 rs1554409943 |
812 | E>G | No |
ClinGen gnomAD |
|
|
CA367951571 rs1554409946 |
813 | T>M | No |
ClinGen gnomAD |
|
|
rs1554409948 CA367951583 |
814 | A>V | No |
ClinGen gnomAD |
|
|
rs1554409953 CA367951635 |
818 | S>N | No |
ClinGen gnomAD |
|
|
rs1232358974 CA367951780 |
828 | I>V | No |
ClinGen TOPMed |
|
|
CA367951842 rs1554410010 |
832 | P>H | No |
ClinGen gnomAD |
|
|
rs1323958246 CA367951844 |
833 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1323958246 CA367951843 |
833 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs781951551 CA4297918 |
833 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782261089 CA4297919 |
839 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782382396 CA4297920 |
840 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297921 rs782036223 |
843 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297922 rs782149583 |
850 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 853 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367952092 rs1554410018 |
853 | D>Y | No |
ClinGen gnomAD |
|
|
rs1584352838 CA367952178 |
854 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 854 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4297939 rs782601028 |
855 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 859 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782184501 CA4297941 |
860 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA367952251 rs1554410253 |
862 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 865 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 866 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554410256 CA367952281 |
866 | R>S | No |
ClinGen Ensembl |
|
|
rs1584352896 TCGA novel CA367952278 |
866 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1554410257 CA367952284 |
867 | Q>* | No |
ClinGen gnomAD |
|
|
rs1443752038 CA367952337 |
871 | Q>* | No |
ClinGen TOPMed |
|
|
CA4297943 rs781998365 |
872 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 873 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554410265 CA367952391 |
876 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 877 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782012327 CA4297946 |
878 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782419989 CA4297945 |
878 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782688212 CA4297948 |
880 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1353189544 CA367952886 |
899 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 910 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 922 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 927 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 932 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377780079 CA367953661 |
953 | L>P | No |
ClinGen TOPMed |
|
|
rs1554410763 CA367953662 |
954 | V>I | No |
ClinGen gnomAD |
|
|
rs1279686438 CA367953669 |
955 | D>H | No |
ClinGen TOPMed |
|
|
CA367953695 rs1554410765 |
957 | S>N | No |
ClinGen gnomAD |
|
|
CA4297958 rs373687583 |
959 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367953717 rs1554410769 |
959 | S>T | No |
ClinGen gnomAD |
|
|
rs1554410770 CA367953748 |
961 | G>V | No |
ClinGen gnomAD |
|
|
CA4297961 rs782277108 |
963 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367953921 rs1554410915 |
970 | P>Q | No |
ClinGen gnomAD |
|
|
CA160168704 rs113065632 |
975 | V>G | No |
ClinGen Ensembl |
|
|
CA367954022 rs1554410921 |
976 | P>L | No |
ClinGen gnomAD |
|
|
CA367954030 rs1554410923 |
977 | A>D | No |
ClinGen gnomAD |
|
|
rs1253960859 CA367954122 |
980 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782593847 CA4297981 |
980 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA367954146 rs1554411118 |
981 | I>M | No |
ClinGen gnomAD |
|
|
CA367954196 rs1209186099 |
984 | T>P | No |
ClinGen TOPMed |
|
|
CA367954221 rs1554411122 |
985 | D>G | No |
ClinGen Ensembl |
|
|
rs1554411119 CA367954213 |
985 | D>N | No |
ClinGen gnomAD |
|
|
CA367954239 rs1554411125 |
987 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 989 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554411127 CA367954277 |
990 | I>V | No |
ClinGen gnomAD |
|
|
CA367954422 rs1260199641 |
996 | P>H | No |
ClinGen TOPMed |
|
|
CA367954421 rs1554411135 |
996 | P>T | No |
ClinGen gnomAD |
|
|
CA367954454 rs1339916973 |
997 | T>M | No |
ClinGen TOPMed |
1 associated diseases with P78347
Without disease ID
1 regional properties for P78347
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Glypican, conserved site | 254 - 277 | IPR019803 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A7MB80 | GTF2I | General transcription factor II-I | Bos taurus (Bovine) | PR |
| A4IFA3 | GTF2IRD2 | General transcription factor II-I repeat domain-containing protein 2 | Bos taurus (Bovine) | PR |
| Q9UHL9 | GTF2IRD1 | General transcription factor II-I repeat domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q6EKJ0 | GTF2IRD2B | General transcription factor II-I repeat domain-containing protein 2B | Homo sapiens (Human) | PR |
| Q86UP8 | GTF2IRD2 | General transcription factor II-I repeat domain-containing protein 2A | 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 |
| Q5U2Y1 | Gtf2i | General transcription factor II-I | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQVAMSTLP | VEDEESSESR | MVVTFLMSAL | ESMCKELAKS | KAEVACIAVY | ETDVFVVGTE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGRAFVNTRK | DFQKDFVKYC | VEEEEKAAEM | HKMKSTTQAN | RMSVDAVEIE | TLRKTVEDYF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CFCYGKALGK | STVVPVPYEK | MLRDQSAVVV | QGLPEGVAFK | HPENYDLATL | KWILENKAGI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFIIKRPFLE | PKKHVGGRVM | VTDADRSILS | PGGSCGPIKV | KTEPTEDSGI | SLEMAAVTVK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EESEDPDYYQ | YNIQAGPSET | DDVDEKQPLS | KPLQGSHHSS | EGNEGTEMEV | PAEDSTQHVP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SETSEDPEVE | VTIEDDDYSP | PSKRPKANEL | PQPPVPEPAN | AGKRKVREFN | FEKWNARITD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LRKQVEELFE | RKYAQAIKAK | GPVTIPYPLF | QSHVEDLYVE | GLPEGIPFRR | PSTYGIPRLE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RILLAKERIR | FVIKKHELLN | STREDLQLDK | PASGVKEEWY | ARITKLRKMV | DQLFCKKFAE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALGSTEAKAV | PYQKFEAHPN | DLYVEGLPEN | IPFRSPSWYG | IPRLEKIIQV | GNRIKFVIKR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PELLTHSTTE | VTQPRTNTPV | KEDWNVRITK | LRKQVEEIFN | LKFAQALGLT | EAVKVPYPVF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESNPEFLYVE | GLPEGIPFRS | PTWFGIPRLE | RIVRGSNKIK | FVVKKPELVI | SYLPPGMASK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| INTKALQSPK | RPRSPGSNSK | VPEIEVTVEG | PNNNNPQTSA | VRTPTQTNGS | NVPFKPRGRE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FSFEAWNAKI | TDLKQKVENL | FNEKCGEALG | LKQAVKVPFA | LFESFPEDFY | VEGLPEGVPF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RRPSTFGIPR | LEKILRNKAK | IKFIIKKPEM | FETAIKESTS | SKSPPRKINS | SPNVNTTASG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VEDLNIIQVT | IPDDDNERLS | KVEKARQLRE | QVNDLFSRKF | GEAIGMGFPV | KVPYRKITIN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PGCVVVDGMP | PGVSFKAPSY | LEISSMRRIL | DSAEFIKFTV | IRPFPGLVIN | NQLVDQSESE |
| 970 | 980 | 990 | |||
| GPVIQESAEP | SQLEVPATEE | IKETDGSSQI | KQEPDPTW |