O75528
PR
Gene name |
TADA3 (ADA3, TADA3L) |
Protein name |
Transcriptional adapter 3 |
Names |
ADA3 homolog, hADA3, STAF54, Transcriptional adapter 3-like, ADA3-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10474 |
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 O75528
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75528-F1 | Predicted | AlphaFoldDB |
289 variants for O75528
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2243831 rs764248325 |
6 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs777052694 CA2243832 |
6 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2243833 rs762124982 |
6 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1165229355 CA351749944 |
7 | C>F | No |
ClinGen gnomAD |
|
|
CA351749862 COSM180444 rs1411149017 |
13 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA351749858 rs1411149017 |
13 | D>Y | No |
ClinGen gnomAD |
|
|
rs775464436 CA2243829 |
15 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 16 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 17 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372910970 CA351749785 |
18 | D>G | No |
ClinGen TOPMed |
|
|
rs759404442 CA2243827 |
19 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2243826 rs376357231 COSM1618171 |
20 | L>P | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1475453179 CA351749742 |
21 | K>R | No |
ClinGen gnomAD |
|
|
rs1272780423 CA351749717 |
23 | C>Y | No |
ClinGen gnomAD |
|
|
rs1249254152 CA351749679 |
26 | Y>F | No |
ClinGen gnomAD |
|
|
CA351749668 rs1335875694 |
27 | T>A | No |
ClinGen gnomAD |
|
|
CA351749659 rs1287195830 |
27 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 28 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2243822 rs747650706 |
31 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2243821 rs747650706 |
31 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1313949487 CA351749600 |
32 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2243820 rs780584290 |
33 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA351749553 rs1400499452 |
35 | D>V | No |
ClinGen gnomAD |
|
|
rs1454471218 CA351749542 |
36 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758878328 CA2243819 |
36 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA351749539 rs1454471218 |
36 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351749547 rs758878328 |
36 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1476191076 CA351749524 |
37 | G>A | No |
ClinGen gnomAD |
|
|
rs779410498 CA2243817 |
37 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351749442 rs1575311142 |
43 | L>V | No |
ClinGen Ensembl |
|
|
CA70009303 rs983504743 |
45 | T>A | No |
ClinGen Ensembl |
|
|
CA351749419 rs983504743 |
45 | T>P | No |
ClinGen Ensembl |
|
|
CA351749403 rs1559721945 |
46 | L>V | No |
ClinGen Ensembl |
|
|
rs1350973637 CA351749371 |
48 | L>V | No |
ClinGen gnomAD |
|
|
CA2243812 rs752763833 |
49 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs376165615 CA2243811 |
52 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351749294 rs1265963765 |
53 | L>M | No |
ClinGen TOPMed |
|
|
rs949299772 CA70009275 |
55 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs762774794 CA2243807 |
57 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA70009264 rs920618436 |
58 | S>T | No |
ClinGen Ensembl |
|
|
CA2243805 rs556976760 |
59 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2243804 rs747763879 |
60 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2243803 COSM3945792 rs780752163 |
60 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs980537171 CA70009241 |
62 | R>C | No |
ClinGen gnomAD |
|
|
rs980537171 CA351749105 |
62 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1425813 CA351749101 rs1163816818 |
62 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768111746 CA2243802 |
64 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1575310974 CA351748941 |
69 | Q>P | No |
ClinGen Ensembl |
|
|
rs78920929 CA2243777 |
76 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA351748369 rs1330867755 |
79 | G>A | No |
ClinGen gnomAD |
|
|
rs1330867755 CA351748370 |
79 | G>D | No |
ClinGen gnomAD |
|
|
rs766457564 CA2243774 |
82 | R>* | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2243773 rs758330255 |
82 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351748288 rs1231184373 |
83 | F>L | No |
ClinGen TOPMed |
|
|
CA2243772 rs750421295 |
84 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1274734338 CA351748171 |
88 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1448154282 CA351748170 |
88 | R>Q | No |
ClinGen gnomAD |
|
|
CA70008140 rs765063026 |
90 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA2243771 rs765063026 |
90 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA351748126 rs1234084331 |
90 | H>Q | No |
ClinGen gnomAD |
|
|
rs150405238 CA351748091 |
92 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA70008111 rs1011618269 |
92 | L>H | No |
ClinGen gnomAD |
|
|
CA351748083 rs1011618269 |
92 | L>P | No |
ClinGen gnomAD |
|
|
CA351748081 rs1011618269 |
92 | L>R | No |
ClinGen gnomAD |
|
|
rs150405238 CA2243770 |
92 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2243767 rs201090588 |
96 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201090588 CA2243768 |
96 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1300913222 | 97 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2243765 rs749798773 |
97 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749798773 CA2243764 |
97 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375665265 CA351747935 |
99 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 102 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351747782 rs1409232331 |
105 | K>N | No |
ClinGen gnomAD |
|
|
CA70008013 rs1007306482 |
107 | E>D | No |
ClinGen Ensembl |
|
|
rs1306035850 CA351747753 |
107 | E>Q | No |
ClinGen gnomAD |
|
|
rs1436425552 CA351747679 |
110 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1436425552 CA351747683 |
110 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351747672 rs1359505073 |
110 | A>V | No |
ClinGen gnomAD |
|
|
rs1174966289 CA351747656 |
111 | G>E | No |
ClinGen gnomAD |
|
|
rs759523634 CA70008011 |
114 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748418072 CA2243759 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA351746926 rs755131993 |
120 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2243757 rs755131993 |
120 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2243755 COSM180443 rs753436936 |
129 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351746789 rs750333465 |
138 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758526908 CA2243754 |
138 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1286435409 CA351746779 |
140 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778675850 CA2243752 |
140 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396995089 CA351746774 |
141 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2243748 rs760399031 |
142 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs367779444 CA2243746 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1559721021 CA351746756 |
144 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2243743 rs770147405 |
150 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA351746707 rs1256006970 |
151 | P>R | No |
ClinGen gnomAD |
|
|
rs1168366204 CA351746661 |
156 | A>T | No |
ClinGen gnomAD |
|
|
CA70007740 rs375314279 |
157 | S>L | No |
ClinGen Ensembl |
|
|
rs1017912754 CA70007726 |
158 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1017912754 CA351746650 |
158 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1199839108 CA351746644 |
159 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs772932428 CA2243713 |
160 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139705343 CA2243714 |
160 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1575308431 CA351746629 |
161 | Y>C | No |
ClinGen Ensembl |
|
|
CA2243711 rs200008508 |
162 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1204177757 CA351746614 |
163 | A>G | No |
ClinGen gnomAD |
|
|
rs1025727523 CA70007710 |
167 | S>G | No |
ClinGen TOPMed |
|
|
CA351746582 rs1330111199 |
168 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2243709 rs201406757 |
171 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2243708 rs149462962 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1404776921 CA351746533 |
175 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749937041 CA2243705 |
178 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70007700 rs941668510 |
180 | P>L | No |
ClinGen gnomAD |
|
|
rs764539864 CA2243704 |
184 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767938554 CA2243701 |
187 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767938554 CA2243702 |
187 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2243663 rs753170899 |
191 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2243661 rs755463232 |
193 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1575304240 CA351746003 |
195 | H>D | No |
ClinGen Ensembl |
|
|
rs763259981 CA2243658 |
197 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1482265322 CA351745944 |
198 | Q>H | No |
ClinGen gnomAD |
|
|
rs1368527747 CA351745949 |
198 | Q>R | No |
ClinGen gnomAD |
|
|
rs750730430 CA2243657 |
199 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2243654 rs776876963 |
202 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262391827 CA351745868 |
203 | E>V | No |
ClinGen gnomAD |
|
|
rs373432811 CA70005765 |
208 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs760534647 CA2243652 |
209 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351745744 rs1415849858 |
211 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403535211 CA351745727 |
213 | A>S | No |
ClinGen TOPMed |
|
|
rs369910263 CA351745718 |
214 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171497410 CA351745713 |
214 | R>Q | No |
ClinGen gnomAD |
|
|
rs369910263 CA2243650 |
214 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2243649 rs201515863 |
215 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351745696 rs1183507298 |
216 | A>T | No |
ClinGen gnomAD |
|
|
CA2243648 rs377247076 |
216 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748746863 CA2243646 |
217 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752070208 CA2243643 |
218 | V>A | No |
ClinGen ExAC TOPMed |
|
|
CA2243644 rs755442127 |
218 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2243642 rs780449985 |
219 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758880193 CA2243641 |
220 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA351745613 rs1331303990 |
220 | D>V | No |
ClinGen gnomAD |
|
|
rs1410323129 CA351745581 |
223 | K>E | No |
ClinGen gnomAD |
|
|
CA2243639 rs750851337 |
224 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2243638 rs765509909 |
225 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA351745541 rs1359450192 |
226 | M>L | No |
ClinGen gnomAD |
|
|
CA351745542 rs1359450192 |
226 | M>V | No |
ClinGen gnomAD |
|
|
CA2243637 rs530067635 |
227 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351745508 rs1413495106 |
228 | P>L | No |
ClinGen gnomAD |
|
|
rs1183974341 CA351745485 COSM4150388 |
231 | E>K | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1240378309 CA351745465 |
232 | L>V | No |
ClinGen TOPMed |
|
|
CA2243632 rs771821095 |
233 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237173624 CA351745458 |
233 | D>N | No |
ClinGen gnomAD |
|
|
rs984407164 CA70005668 |
236 | D>H | No |
ClinGen gnomAD |
|
|
CA351745412 rs984407164 |
236 | D>Y | No |
ClinGen gnomAD |
|
|
rs752851731 CA2243614 |
238 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA70005569 rs956751577 |
239 | A>V | No |
ClinGen Ensembl |
|
|
CA351745267 rs1243428966 |
244 | S>F | No |
ClinGen gnomAD |
|
|
rs1297877619 CA351745247 |
246 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA70005556 rs1031979932 |
246 | A>V | No |
ClinGen Ensembl |
|
|
CA2243611 rs774065513 |
247 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs766224671 CA70005554 |
248 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295840705 CA351745177 |
249 | E>D | No |
ClinGen gnomAD |
|
|
rs201486781 CA2243609 |
251 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911690051 CA70005545 |
251 | P>S | No |
ClinGen TOPMed |
|
|
CA351745097 rs1383861577 |
255 | C>Y | No |
ClinGen TOPMed |
|
|
rs370281663 CA2243606 |
258 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 261 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351744980 rs1188143064 |
262 | Q>* | No |
ClinGen gnomAD |
|
|
CA351744982 rs1188143064 |
262 | Q>E | No |
ClinGen gnomAD |
|
|
CA2243603 rs746448466 |
262 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1191797172 CA351744964 |
263 | R>C | No |
ClinGen gnomAD |
|
|
rs779410700 CA2243602 |
263 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2243601 rs757748298 |
266 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1344018341 CA351744872 |
269 | V>G | No |
ClinGen gnomAD |
|
| rs1277993137 | 270 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312504801 CA351743957 |
273 | I>T | No |
ClinGen TOPMed |
|
|
CA2243576 rs751465549 |
279 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1411885091 CA351743856 |
279 | D>H | No |
ClinGen TOPMed |
|
|
CA351743836 rs1286583679 |
280 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 281 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70004371 rs775425054 |
281 | P>H | No |
ClinGen Ensembl |
|
|
CA351743763 rs1209995283 CA351743759 |
285 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2243574 rs370619002 |
285 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351743770 rs1335215877 |
285 | M>V | No |
ClinGen TOPMed |
|
|
rs753598243 CA2243570 |
291 | G>W | No |
ClinGen ExAC |
|
| rs1342617130 | 292 | A>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540503107 CA2243569 |
292 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1322656933 CA351743664 |
294 | G>A | No |
ClinGen gnomAD |
|
|
rs1457774524 CA351743659 |
295 | A>S | No |
ClinGen gnomAD |
|
|
rs775164232 CA2243567 |
296 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA351743635 rs1559717874 |
297 | T>I | No |
ClinGen Ensembl |
|
|
CA351743642 rs1575300016 |
297 | T>P | No |
ClinGen Ensembl |
|
|
CA70004330 rs895104554 |
300 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2243566 rs771281953 |
301 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763516911 CA2243565 |
303 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2243564 rs199891591 |
304 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351743561 rs1443647296 |
305 | P>A | No |
ClinGen gnomAD |
|
|
rs1443647296 CA351743559 |
305 | P>S | No |
ClinGen gnomAD |
|
|
rs1240811935 CA351743537 |
307 | S>G | No |
ClinGen gnomAD |
|
|
rs770252132 CA2243563 |
307 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2243526 rs762313984 |
308 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA351743431 rs1270312163 |
309 | P>L | No |
ClinGen gnomAD |
|
|
CA70003171 rs946166071 |
311 | T>A | No |
ClinGen Ensembl |
|
|
CA351743388 rs1254446531 |
313 | S>C | No |
ClinGen gnomAD |
|
|
rs914558186 CA70003167 |
316 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2243523 rs372569284 |
317 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2243522 rs775825799 |
317 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174185546 CA351743344 |
318 | I>L | No |
ClinGen gnomAD |
|
|
CA351743286 rs1475187684 |
323 | I>T | No |
ClinGen TOPMed |
|
|
rs368013110 CA70003156 |
325 | Q>* | No |
ClinGen ESP TOPMed |
|
|
rs1365927381 CA351743264 |
325 | Q>H | No |
ClinGen TOPMed |
|
|
CA351743248 rs1442586852 |
327 | L>I | No |
ClinGen gnomAD |
|
|
rs770923191 CA2243518 |
328 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2243517 rs749302221 |
333 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150292231 CA2243514 COSM1228395 |
335 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs548979963 CA2243513 |
338 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2243510 rs753950513 |
339 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1262618238 CA351742970 |
340 | D>V | No |
ClinGen gnomAD |
|
|
rs1486145510 CA351742879 |
345 | E>Q | No |
ClinGen TOPMed |
|
|
CA351742826 rs1290134945 COSM1228394 |
347 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA70003034 rs868693322 |
347 | R>H | No |
ClinGen TOPMed |
|
|
CA70003033 rs779376152 |
348 | K>N | No |
ClinGen Ensembl |
|
|
CA351742788 rs1224189470 |
348 | K>R | No |
ClinGen gnomAD |
|
|
CA351742770 rs1372317594 |
349 | R>W | No |
ClinGen gnomAD |
|
|
CA351742721 rs1575297263 |
351 | A>G | No |
ClinGen Ensembl |
|
|
CA351742726 rs1277452104 |
351 | A>T | No |
ClinGen gnomAD |
|
|
rs1575297251 CA351742675 |
353 | L>P | No |
ClinGen Ensembl |
|
|
CA2243507 rs199623817 |
357 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA70003017 rs547844232 |
358 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3783764 CA2243506 rs547844232 |
358 | A>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1467768679 CA351742529 |
358 | A>V | No |
ClinGen gnomAD |
|
|
rs759684453 CA2243503 |
361 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406277079 CA351742462 |
361 | R>H | No |
ClinGen gnomAD |
|
|
rs954721291 CA70002974 |
363 | K>R | No |
ClinGen Ensembl |
|
|
rs1181898388 CA351742302 |
366 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA351742321 rs771190912 |
366 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70002963 rs771190912 |
366 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2243501 rs771190912 |
366 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 370 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351740706 rs1380831400 |
374 | E>D | No |
ClinGen TOPMed |
|
|
CA351740649 rs1575290078 |
375 | V>G | No |
ClinGen Ensembl |
|
|
CA2243464 rs753198847 |
376 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2243461 rs752002560 |
377 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755334555 CA2243462 |
377 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2243460 rs766659888 |
378 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2243459 rs758706097 |
380 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1183729317 CA351740445 |
381 | R>K | No |
ClinGen gnomAD |
|
|
rs750460681 CA2243458 |
383 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460467112 CA351740378 COSM1049226 |
383 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2243457 rs765293443 |
384 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs552406219 CA2243456 |
385 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA69999806 rs552406219 |
385 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776473686 CA2243455 |
385 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA69999769 rs905475792 |
386 | M>V | No |
ClinGen Ensembl |
|
|
rs760342366 CA2243453 |
390 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351740085 rs1315982593 |
391 | V>G | No |
ClinGen gnomAD |
|
|
rs1575289907 CA351740069 |
392 | M>T | No |
ClinGen Ensembl |
|
|
rs1380639431 CA351740011 |
394 | A>T | No |
ClinGen gnomAD |
|
|
CA351739974 rs1417243449 |
395 | F>S | No |
ClinGen TOPMed |
|
|
CA2243451 rs199722218 |
396 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351739958 rs1383875900 |
396 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1417629065 CA351739900 |
398 | I>M | No |
ClinGen gnomAD |
|
|
CA351739903 rs1157787215 |
398 | I>N | No |
ClinGen gnomAD |
|
|
CA2243450 rs745589549 |
398 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs896549764 COSM1425807 CA69999751 |
399 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA351739890 rs1429889584 |
399 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 399 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559714521 CA351739816 |
401 | A>T | No |
ClinGen Ensembl |
|
|
CA351739793 rs770394657 |
402 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA351739779 COSM447130 rs1173953629 |
402 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA2243448 rs770394657 |
402 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs755530904 CA2243445 |
408 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs935448210 CA69999731 |
409 | T>A | No |
ClinGen Ensembl |
|
|
rs1261629969 CA351739572 |
410 | K>E | No |
ClinGen gnomAD |
|
|
CA351739414 rs1389742894 |
415 | Q>R | No |
ClinGen TOPMed |
|
|
CA351739368 rs1203812766 |
416 | A>D | No |
ClinGen gnomAD |
|
|
rs1055985920 CA69999714 |
417 | W>R | No |
ClinGen TOPMed |
|
|
CA69999712 rs866746296 |
419 | T>I | No |
ClinGen Ensembl |
|
|
rs3210241 CA69999705 |
420 | L>Q | No |
ClinGen Ensembl |
|
|
CA69999710 rs574551301 |
420 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2243443 rs780569210 |
421 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA69999698 rs1048684 |
422 | E>G | No |
ClinGen Ensembl |
|
|
CA69999693 rs1043775497 |
423 | R>L | No |
ClinGen Ensembl |
|
|
CA351739233 rs1245567569 |
424 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA69999691 rs937468169 |
425 | S>N | No |
ClinGen TOPMed |
|
|
CA2243442 rs758687918 |
426 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O75528
6 regional properties for O75528
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | TGS | 288 - 363 | IPR004095 |
| domain | Small GTP-binding protein domain | 62 - 213 | IPR005225 |
| domain | GTP binding domain | 64 - 166 | IPR006073 |
| conserved_site | GTP1/OBG, conserved site | 115 - 128 | IPR006074 |
| domain | OBG-type guanine nucleotide-binding (G) domain | 63 - 288 | IPR031167 |
| domain | GTP binding protein, second domain | 185 - 289 | IPR031662 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| ATAC complex | A chromatin remodelling complex that regulates transcription via acetylation primarily of nucleosomal histones H3 and possibly H4. Shares the histone acetylation (HAT) module of GCN5/PCAF-ADA2-ADA3-SGF29 (or orthologs) with the related SAGA complex (GO:0000124). Contains HAT subunits GCN5 or PCAF in a mutually exclusive manner. In addition to the HAT module contains DR1/NC2B, KAT14, MBIP, WDR5, YEATS2 and ZZZ3 or orthologs. Also regulates the activity of non-histone targets and orchestrates mitotic progression by regulating Cyclin A degradation through acetylation. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| 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. |
| SAGA complex | A SAGA-type histone acetyltransferase complex that deubiquitinates H2A and/or H2B. This complex is organized into several functional submodules: a structural core including the activator binding module and consisting of ADA1 or a homolog, members of the SPT and TAF protein families as well as promotor recruitment factor TRRAP/TRA1, a histone acetyltransferase (HAT) module consisting of GCN5/KAT2A or PCAF/KAT2B, ADA2, ADA3/NGG1, and SGF29 or homologues thereof, a histone deubiquitinase (DUB) module consisting of ATXN7/SGF73, ATXN7L3/SGF11, ENY2/SUS1 and USP22/UBP8 or homologues thereof, and in some taxa a splicing module consisting of SF3B3 and SF3B5 or homologues thereof (not in fungi). In budding yeast also contains Spt8 which distinguishes it from SAGA-like (SLIK) complex (GO:0046695). |
| transcription factor TFTC complex | A protein complex that does not contain either a TATA-binding protein (TBP) or a TBP-like factor, but is composed of several TAFIIs and other proteins, including a histone acetyltransferase. This complex is able to nucleate transcription initiation by RNA polymerase II, can mediate transcriptional activation, and has histone acetyltransferase activity. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| histone acetylation | The modification of a histone by the addition of an acetyl group. |
| histone H3 acetylation | The modification of histone H3 by the addition of an acetyl group. |
| histone H3-K14 acetylation | The modification of histone H3 by the addition of an acetyl group to a lysine residue at position 14 of the histone. |
| intracellular estrogen receptor signaling pathway | The series of molecular signals initiated by estrogen binding to an intracellular receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| monoubiquitinated histone deubiquitination | The removal of the ubiquitin group from a monoubiquitinated histone protein. |
| monoubiquitinated histone H2A deubiquitination | The removal of the ubiquitin group from a monoubiquitinated histone H2A protein. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell division | Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. |
| regulation of DNA repair | Any process that modulates the frequency, rate or extent of DNA repair. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of embryonic development | Any process that modulates the frequency, rate or extent of embryonic development. |
| regulation of histone deacetylation | Any process that modulates the frequency, rate or extent of the removal of acetyl groups from histones. |
| regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| regulation of RNA splicing | Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of tubulin deacetylation | Any process that modulates the frequency, rate or extent of tubulin deacetylation. Tubulin deacetylation is the removal of an acetyl group from a protein amino acid. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q66JG5 | tada3 | Transcriptional adapter 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSELKDCPLQ | FHDFKSVDHL | KVCPRYTAVL | ARSEDDGIGI | EELDTLQLEL | ETLLSSASRR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRVLEAETQI | LTDWQDKKGD | RRFLKLGRDH | ELGAPPKHGK | PKKQKLEGKA | GHGPGPGPGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKSKNLQPKI | QEYEFTDDPI | DVPRIPKNDA | PNRFWASVEP | YCADITSEEV | RTLEELLKPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDEAEHYKIP | PLGKHYSQRW | AQEDLLEEQK | DGARAAAVAD | KKKGLMGPLT | ELDTKDVDAL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKKSEAQHEQ | PEDGCPFGAL | TQRLLQALVE | ENIISPMEDS | PIPDMSGKES | GADGASTSPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NQNKPFSVPH | TKSLESRIKE | ELIAQGLLES | EDRPAEDSED | EVLAELRKRQ | AELKALSAHN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RTKKHDLLRL | AKEEVSRQEL | RQRVRMADNE | VMDAFRKIMA | ARQKKRTPTK | KEKDQAWKTL |
| 430 | |||||
| KERESILKLL | DG |