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

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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