O94864
Gene name |
SUPT7L (KIAA0764) |
Protein name |
STAGA complex 65 subunit gamma |
Names |
Adenocarcinoma antigen ART1, SPTF-associated factor 65 gamma, STAF65gamma, Suppressor of Ty 7-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9913 |
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
4 structures for O94864
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7KTR | EM | 293 A | D | 51-414 | PDB |
| 7KTS | EM | 1909 A | D | 1-414 | PDB |
| 8H7G | EM | 370 A | I | 1-414 | PDB |
| AF-O94864-F1 | Predicted | AlphaFoldDB |
314 variants for O94864
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs373802691 CA1584785 |
2 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346385100 rs1305041585 |
4 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346385103 rs1305041585 |
4 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1584769 rs372331209 |
5 | R>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA346384602 rs1316649428 |
6 | Y>C | No |
ClinGen Ensembl |
|
|
rs759418062 CA1584768 |
6 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403895886 CA346384584 |
7 | W>C | No |
ClinGen TOPMed |
|
|
CA346384592 rs1396747078 |
7 | W>G | No |
ClinGen gnomAD |
|
|
CA346384580 rs1302941143 |
8 | G>R | No |
ClinGen gnomAD |
|
|
CA346384556 rs1171684598 |
9 | E>D | No |
ClinGen gnomAD |
|
|
CA1584766 rs771243712 |
11 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA44533374 rs919943998 |
11 | P>L | No |
ClinGen TOPMed |
|
|
rs368383395 CA44533357 |
12 | I>L | No |
ClinGen ESP TOPMed |
|
|
rs1572982267 CA346384508 |
14 | S>P | No |
ClinGen Ensembl |
|
|
CA346384463 rs1439195324 |
16 | Q>P | No |
ClinGen TOPMed |
|
|
CA44533348 rs1038303297 |
17 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs777913728 CA1584763 |
18 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1584762 rs769815831 |
22 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346384376 rs1282646743 |
23 | D>H | No |
ClinGen gnomAD |
|
|
CA346384373 rs1282646743 |
23 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346384337 rs1279638437 |
26 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200959399 CA1584761 |
27 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781692578 CA346384303 |
28 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs1208936908 CA346384308 |
28 | E>G | No |
ClinGen TOPMed |
|
|
CA1584759 rs755452936 |
29 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1298760567 COSM387009 CA346384282 |
30 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1407514 rs752015900 CA1584758 |
30 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA346384206 rs1572982142 |
36 | D>A | No |
ClinGen Ensembl |
|
|
CA346384162 rs1572982094 |
40 | H>P | No |
ClinGen Ensembl |
|
|
rs1372258856 CA346384138 |
41 | Q>H | No |
ClinGen gnomAD |
|
|
CA346384132 rs1396035748 |
42 | P>S | No |
ClinGen gnomAD |
|
|
CA1584754 rs753378560 |
44 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA44533324 rs903144517 |
46 | K>R | No |
ClinGen Ensembl |
|
|
rs548044329 CA1584753 |
47 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1020303374 CA44533322 |
47 | P>S | No |
ClinGen Ensembl |
|
|
CA346384040 rs1390751342 |
49 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971288974 CA44533318 |
52 | M>T | No |
ClinGen TOPMed |
|
|
rs767613710 CA1584750 |
52 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346383961 rs1572981979 |
55 | I>T | No |
ClinGen Ensembl |
|
|
CA346383967 rs1192740869 |
55 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346383909 rs1443271758 |
60 | C>R | No |
ClinGen gnomAD |
|
|
CA1584749 rs759379847 |
61 | S>N | No |
ClinGen ExAC |
|
|
CA346383871 rs1572981949 |
63 | T>P | No |
ClinGen Ensembl |
|
|
rs1400919268 CA346383859 |
64 | I>F | No |
ClinGen gnomAD |
|
|
CA44533315 rs913043421 |
65 | H>R | No |
ClinGen TOPMed |
|
|
CA346383842 rs1259682557 |
65 | H>Y | No |
ClinGen gnomAD |
|
|
CA346383832 rs1485609744 |
66 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1337857525 CA346383777 |
71 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1296838986 CA346383761 |
72 | H>Y | No |
ClinGen TOPMed |
|
|
CA346383742 rs1360470770 |
73 | N>S | No |
ClinGen TOPMed |
|
|
CA1584745 rs773381394 |
74 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44533298 rs773381394 |
74 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114487538 CA1584744 |
74 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748274586 CA1584743 |
75 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1584742 rs184249965 |
75 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1413662476 CA346383715 |
76 | L>V | No |
ClinGen gnomAD |
|
|
CA1584740 rs367572958 |
77 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747404460 CA1584739 |
80 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1237714896 CA346383636 |
83 | A>T | No |
ClinGen TOPMed |
|
|
CA346383618 rs1240410643 |
84 | Q>R | No |
ClinGen Ensembl |
|
|
CA346383613 rs1185839651 |
85 | A>T | No |
ClinGen gnomAD |
|
|
CA346383578 rs1233892428 |
87 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436633260 CA346383538 |
90 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 92 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346383504 rs1272711947 |
93 | G>S | No |
ClinGen gnomAD |
|
|
CA1584737 rs201679796 |
94 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584735 rs777610958 |
97 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA346383462 rs753562086 |
97 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1584736 rs753562086 |
97 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA44533269 rs201942828 |
98 | E>D | No |
ClinGen Ensembl |
|
|
CA1584734 rs755809244 |
99 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346383411 rs1572981703 |
100 | E>D | No |
ClinGen Ensembl |
|
|
CA346383406 rs1280844978 |
101 | P>R | No |
ClinGen gnomAD |
|
|
CA346383401 rs1187058063 |
102 | L>F | No |
ClinGen TOPMed |
|
|
rs1187058063 CA346383403 |
102 | L>I | No |
ClinGen TOPMed |
|
|
rs917490393 CA44533261 |
103 | P>R | No |
ClinGen Ensembl |
|
|
rs1473947426 CA346383395 |
103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs531573550 CA1584732 |
104 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA346383390 rs1335143292 |
104 | S>T | No |
ClinGen gnomAD |
|
|
CA346383374 rs1396895134 |
106 | P>L | No |
ClinGen gnomAD |
|
|
CA1584730 rs751395014 |
107 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA346383369 rs1380148841 |
107 | G>V | No |
ClinGen TOPMed |
|
|
CA346383366 rs1461180196 |
108 | S>A | No |
ClinGen gnomAD |
|
|
rs191619402 CA1584729 |
108 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1584728 rs200392709 |
111 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584727 rs200392709 |
111 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346383332 rs1394975657 |
114 | D>Y | No |
ClinGen TOPMed |
|
|
CA346383324 rs776693329 |
115 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA346383322 rs1203650484 |
115 | L>P | No |
ClinGen gnomAD |
|
|
rs776693329 CA1584724 |
115 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1271738934 CA346383310 |
117 | P>L | No |
ClinGen gnomAD |
|
|
CA346383313 rs1341904964 |
117 | P>S | No |
ClinGen TOPMed |
|
|
CA346383305 rs1481956960 |
118 | L>S | No |
ClinGen gnomAD |
|
|
rs775824239 CA1584720 |
119 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746286777 CA1584718 |
120 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1308251419 CA346383293 |
120 | C>G | No |
ClinGen TOPMed |
|
|
rs779408618 CA1584717 |
121 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1584716 rs147739348 |
124 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147739348 CA1584715 |
124 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370733245 CA1584713 |
125 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584712 rs751048846 |
126 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA346383235 rs1399050230 |
129 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201094706 CA1584710 |
130 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584709 rs201094706 |
130 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584711 rs766274406 |
130 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346383185 rs1558501362 |
136 | S>N | No |
ClinGen Ensembl |
|
|
CA346383177 rs1251500803 |
137 | D>A | No |
ClinGen gnomAD |
|
|
rs764942442 CA1584708 |
137 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1584707 rs545468088 |
140 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1584706 rs201686280 |
140 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765035299 CA1584689 |
143 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs573239193 CA44532083 |
146 | V>L | No |
ClinGen 1000Genomes |
|
|
rs1380469453 CA346383092 |
148 | E>A | No |
ClinGen TOPMed |
|
|
CA1584688 rs757009850 |
148 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM108442 COSM106922 rs141161184 CA44532073 |
151 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM108442 rs143153409 COSM106922 CA44532076 |
151 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 151 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346383062 rs1293250499 |
152 | H>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753603294 CA1584687 |
153 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584686 rs764275544 |
154 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1584684 rs200164884 |
155 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584685 rs760941180 |
155 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464676847 CA346383040 |
156 | Q>R | No |
ClinGen TOPMed |
|
|
CA346383033 rs1463008586 |
157 | L>P | No |
ClinGen gnomAD |
|
|
rs770187094 CA1584680 |
158 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA346383018 rs1427522561 |
159 | Y>* | No |
ClinGen gnomAD |
|
|
CA346383024 rs1168833594 |
159 | Y>H | No |
ClinGen gnomAD |
|
|
rs1572977875 CA346383022 |
159 | Y>S | No |
ClinGen Ensembl |
|
|
CA346383013 rs1418157550 |
160 | Q>P | No |
ClinGen gnomAD |
|
|
CA1584679 rs746180181 |
161 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746180181 CA346383005 |
161 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256635606 CA346382128 |
163 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs377222033 CA1584678 |
164 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584676 rs746602273 |
168 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs770037914 CA1584674 |
168 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA346382095 rs1558499755 |
169 | A>T | No |
ClinGen Ensembl |
|
|
CA1584673 rs369425683 |
169 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584671 rs757169060 |
170 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1312166703 CA346382081 |
171 | F>S | No |
ClinGen gnomAD |
|
|
rs753636659 CA1584670 |
172 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44532014 rs777622585 |
173 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1584669 rs777622585 |
173 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs756296292 CA1584668 |
173 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44531989 rs748261616 |
175 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs767727949 CA1584666 |
175 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416495827 CA346382051 |
176 | E>* | No |
ClinGen gnomAD |
|
|
CA1584665 rs200996052 |
177 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1584663 rs751665936 |
178 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1584662 rs767051220 |
180 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763547158 CA1584661 |
181 | T>I | No |
ClinGen ExAC |
|
|
CA346382018 rs763547158 |
181 | T>N | No |
ClinGen ExAC |
|
|
CA1584660 rs773451475 |
183 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770135844 CA1584659 |
184 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1254736093 CA346382006 |
184 | D>N | No |
ClinGen gnomAD |
|
|
rs1181920219 CA346382001 |
184 | D>V | No |
ClinGen gnomAD |
|
|
CA346381995 rs1451778445 |
185 | V>A | No |
ClinGen TOPMed |
|
|
CA1584658 rs760263007 |
187 | H>R | No |
ClinGen ExAC |
|
|
CA44531942 rs747562533 |
191 | L>P | No |
ClinGen Ensembl |
|
|
CA1584657 COSM1267046 rs569167167 |
192 | K>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs375571980 CA1584656 |
198 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375571980 CA1584655 |
198 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584654 rs778384649 |
198 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346381892 rs1446419672 |
201 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346381878 rs557391081 |
203 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44531924 rs371987223 |
203 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371987223 CA1584652 |
203 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557391081 CA1584653 |
203 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321878256 CA346381872 |
204 | E>G | No |
ClinGen TOPMed |
|
|
rs953733516 CA44531921 |
205 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1584649 rs752894387 |
206 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755890924 CA1584650 |
206 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346381855 rs1158288387 |
208 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1572977543 CA346381844 |
209 | Q>H | No |
ClinGen Ensembl |
|
|
CA1584648 rs781613860 |
209 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA346381839 rs1254620434 |
210 | T>I | No |
ClinGen gnomAD |
|
|
rs368138417 CA1584647 |
211 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368138417 CA346381833 |
211 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584646 rs368138417 |
211 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191553159 CA346381836 |
211 | P>T | No |
ClinGen gnomAD |
|
|
rs766498602 CA1584645 |
213 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1584644 rs758839917 |
214 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA346381800 rs201032397 CA1584643 |
216 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1584642 rs765547884 |
217 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346381798 rs765547884 |
217 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1404266669 CA346381788 |
218 | Q>P | No |
ClinGen TOPMed |
|
|
CA44531894 rs879030274 |
219 | V>A | No |
ClinGen Ensembl |
|
|
rs776961728 CA1584641 |
219 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776961728 CA1584640 |
219 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188290387 CA1584638 |
224 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773859319 CA44531886 |
226 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773859319 CA1584637 |
226 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346381673 rs1572977414 |
227 | S>R | No |
ClinGen Ensembl |
|
|
rs1051361501 CA44531885 |
228 | V>G | No |
ClinGen Ensembl |
|
|
rs770371850 CA1584636 |
229 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584635 rs749207389 |
233 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs374434548 CA1584633 |
238 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374434548 CA1584634 |
238 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1584632 rs372248888 COSM295683 |
238 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781129599 CA1584631 |
241 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1477581171 CA346381477 |
242 | Y>C | No |
ClinGen gnomAD |
|
|
CA346381257 rs1409232919 |
251 | K>N | No |
ClinGen TOPMed |
|
| rs1442402388 | 254 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44531263 rs899380851 |
254 | S>P | No |
ClinGen TOPMed |
|
|
rs758523714 CA1584608 |
255 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746021382 CA1584607 |
256 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA44531257 rs1055776416 |
258 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 259 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44531250 rs909218870 |
260 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs909218870 CA44531254 |
260 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346381123 rs1572975512 |
261 | V>I | No |
ClinGen Ensembl |
|
|
rs778859365 CA1584606 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1584605 rs757789956 |
265 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584604 rs754288302 |
265 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945413244 CA44531237 |
266 | A>D | No |
ClinGen TOPMed |
|
|
rs929901418 CA44531234 |
267 | T>K | No |
ClinGen Ensembl |
|
|
CA1584603 rs535145831 |
268 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA44531226 CA1584601 rs188551129 |
269 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1584600 rs200121280 |
270 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1489378385 CA346380978 |
272 | P>T | No |
ClinGen gnomAD |
|
|
CA346380942 rs1170229229 |
276 | K>Q | No |
ClinGen gnomAD |
|
|
CA346380924 rs764592470 |
277 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764592470 CA1584597 |
277 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346380874 rs1558498559 |
281 | S>G | No |
ClinGen Ensembl |
|
|
CA1584594 rs377296864 |
282 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750367400 CA1584593 |
287 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233992692 CA346380772 |
288 | S>T | No |
ClinGen gnomAD |
|
|
rs1184358215 CA346380756 |
289 | E>G | No |
ClinGen gnomAD |
|
|
CA44531200 rs970575929 |
290 | E>* | No |
ClinGen TOPMed |
|
|
rs970575929 CA346380746 COSM1019859 |
290 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA346380730 rs1456722764 |
291 | L>V | No |
ClinGen gnomAD |
|
|
CA1584592 rs775137219 |
292 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA346380698 rs1213918540 |
293 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 294 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220643122 CA346380675 |
295 | L>P | No |
ClinGen gnomAD |
|
|
rs201935160 CA1584591 |
296 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770868932 CA1584588 |
299 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1281215989 CA346380620 |
300 | Q>E | No |
ClinGen gnomAD |
|
|
CA44531184 rs1019378343 |
305 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs990588621 CA44531179 |
306 | V>A | No |
ClinGen gnomAD |
|
|
rs761835617 CA44531178 |
307 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346380527 rs1326385658 |
307 | L>R | No |
ClinGen gnomAD |
|
|
rs749825803 CA1584587 |
308 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs749825803 CA346380520 |
308 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA1584585 rs756593192 |
311 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584582 rs758082498 |
312 | E>D | No |
ClinGen ExAC |
|
|
CA1584583 rs781343480 |
312 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584581 rs749994177 COSM1019858 |
313 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA346380453 rs1371616017 |
313 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 315 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 315 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346380425 rs1443070167 |
315 | P>Q | No |
ClinGen TOPMed |
|
|
rs1380053467 CA346380361 |
320 | V>A | No |
ClinGen gnomAD |
|
|
CA346380345 rs1465587958 |
321 | E>D | No |
ClinGen gnomAD |
|
|
rs1305676017 CA346380338 |
322 | A>T | No |
ClinGen TOPMed |
|
|
CA1584580 rs764831422 |
322 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584579 rs761444760 |
328 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280978680 CA346380170 |
328 | S>I | No |
ClinGen gnomAD |
|
|
CA346380165 rs1212675802 |
329 | A>T | No |
ClinGen gnomAD |
|
|
rs368674223 CA1584557 |
338 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753469353 CA1584556 |
339 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1398254332 CA346380021 |
340 | A>P | No |
ClinGen gnomAD |
|
|
rs1398254332 CA346380022 |
340 | A>T | No |
ClinGen gnomAD |
|
|
CA346379962 COSM721339 rs1558497593 |
344 | M>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA346379965 rs763634190 |
344 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1584555 rs763634190 |
344 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1437185058 CA346379939 |
346 | P>A | No |
ClinGen gnomAD |
|
|
rs759289929 CA1584551 |
351 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584552 rs767377078 |
351 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584553 rs752532224 |
351 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774176578 CA1584550 |
352 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200753357 CA1584549 |
353 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346379823 rs1257690904 |
355 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346379820 rs1189970300 |
355 | S>F | No |
ClinGen gnomAD |
|
|
rs1482265203 CA346379817 |
356 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA44530465 rs913021339 |
356 | G>R | No |
ClinGen TOPMed |
|
|
CA44530462 rs753972326 |
358 | G>D | No |
ClinGen Ensembl |
|
|
rs769815979 CA1584546 |
361 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1377660202 CA346379752 |
366 | E>G | No |
ClinGen gnomAD |
|
|
rs769180282 CA1584543 |
366 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA346379739 rs1203541625 |
368 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA346379727 rs1558497514 |
369 | M>I | No |
ClinGen Ensembl |
|
|
rs1261265298 CA346379733 |
369 | M>V | No |
ClinGen TOPMed |
|
|
CA346379722 rs1443396924 |
370 | S>* | No |
ClinGen gnomAD |
|
|
CA1584542 rs747388281 |
370 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA346379721 rs1443396924 |
370 | S>L | No |
ClinGen gnomAD |
|
|
CA1584541 rs780558973 |
371 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1009785534 CA44530452 |
372 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs537179168 CA1584539 |
375 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200862829 CA1584540 |
375 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346379691 rs200862829 |
375 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 377 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752221996 CA1584537 |
382 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1584536 rs752221996 |
382 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1584535 rs767404099 |
385 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421947022 CA346379626 |
385 | D>N | No |
ClinGen gnomAD |
|
|
rs754931262 CA44530447 |
389 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584534 rs754931262 |
389 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346379582 rs1236199789 |
391 | H>P | No |
ClinGen gnomAD |
|
|
CA346379558 rs1317557898 |
394 | D>E | No |
ClinGen gnomAD |
|
|
rs766103531 CA1584532 |
395 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763182708 CA1584531 |
398 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1584527 rs761844356 |
402 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1584526 rs551999323 |
406 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346379481 rs1445547251 |
406 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1394806008 CA346379478 |
407 | C>S | No |
ClinGen gnomAD |
|
|
CA44530423 rs1049202573 |
407 | C>Y | No |
ClinGen gnomAD |
|
|
rs1415255201 CA346378759 |
411 | M>I | No |
ClinGen TOPMed |
|
|
CA44530417 rs955537084 |
415 | I>Q | No |
ClinGen TOPMed |
No associated diseases with O94864
1 regional properties for O94864
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Bromodomain associated domain | 151 - 230 | IPR006565 |
3 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. |
| 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). |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| histone H3 acetylation | The modification of histone H3 by the addition of an acetyl group. |
| maintenance of protein location in nucleus | Any process in which a protein is maintained in the nucleus and prevented from moving elsewhere. These include sequestration within the nucleus, protein stabilization to prevent transport elsewhere and the active retrieval of proteins that escape the nucleus. |
| 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. |
| regulation of DNA repair | Any process that modulates the frequency, rate or extent of DNA repair. |
| 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. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNLQRYWGEI | PISSSQTNRS | SFDLLPREFR | LVEVHDPPLH | QPSANKPKPP | TMLDIPSEPC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SLTIHTIQLI | QHNRRLRNLI | ATAQAQNQQQ | TEGVKTEESE | PLPSCPGSPP | LPDDLLPLDC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNPNAPFQIR | HSDPESDFYR | GKGEPVTELS | WHSCRQLLYQ | AVATILAHAG | FDCANESVLE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TLTDVAHEYC | LKFTKLLRFA | VDREARLGQT | PFPDVMEQVF | HEVGIGSVLS | LQKFWQHRIK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DYHSYMLQIS | KQLSEEYERI | VNPEKATEDA | KPVKIKEEPV | SDITFPVSEE | LEADLASGDQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLPMGVLGAQ | SERFPSNLEV | EASPQASSAE | VNASPLWNLA | HVKMEPQESE | EGNVSGHGVL |
| 370 | 380 | 390 | 400 | 410 | |
| GSDVFEEPMS | GMSEAGIPQS | PDDSDSSYGS | HSTDSLMGSS | PVFNQRCKKR | MRKI |