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 O94763

Entry ID Method Resolution Chain Position Source
AF-O94763-F1 Predicted AlphaFoldDB

496 variants for O94763

Variant ID(s) Position Change Description Diseaes Association Provenance
CA405140587
rs1236599761
2 E>* No ClinGen
gnomAD
CA405140598
rs1215776464
3 A>V No ClinGen
TOPMed
TCGA novel 4 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405140620
rs1272789107
7 E>A No ClinGen
TOPMed
CA405140623
rs1189543395
7 E>D No ClinGen
TOPMed
gnomAD
CA405140630
rs1318836334
8 T>M No ClinGen
TOPMed
CA405140633
rs1242462636
9 P>A No ClinGen
TOPMed
rs1418351083
CA405140636
9 P>L No ClinGen
gnomAD
CA405140632
rs1242462636
9 P>S No ClinGen
TOPMed
rs942167206
CA306818110
10 P>H No ClinGen
TOPMed
gnomAD
CA306818119
rs942167206
10 P>L No ClinGen
TOPMed
gnomAD
rs746162017
CA9352490
10 P>S No ClinGen
ExAC
gnomAD
CA405140644
rs1292611943
11 D>G No ClinGen
TOPMed
CA306818126
rs993558337
11 D>N No ClinGen
TOPMed
rs551935451
CA405140648
12 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA306818187
rs1013336536
12 P>L No ClinGen
TOPMed
gnomAD
CA9352494
rs551935451
12 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA405140647
rs551935451
12 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9352495
rs763524587
13 S>* No ClinGen
ExAC
gnomAD
CA405140654
rs1390372356
13 S>P No ClinGen
gnomAD
CA405140672
rs1228130868
14 P>L No ClinGen
TOPMed
gnomAD
CA405140666
rs1356554097
14 P>S No ClinGen
gnomAD
CA405140679
rs1266883583
15 P>L No ClinGen
TOPMed
CA9352496
rs763718000
15 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA405140686
rs1313875784
16 S>L No ClinGen
TOPMed
gnomAD
CA405140684
rs1451315142
16 S>P No ClinGen
Ensembl
rs773692912
CA9352498
17 A>V No ClinGen
ExAC
gnomAD
CA9352499
rs761530942
18 P>A No ClinGen
ExAC
gnomAD
CA405140706
rs1484382994
18 P>R No ClinGen
gnomAD
rs1257755459
CA405140716
19 A>S No ClinGen
TOPMed
gnomAD
rs1257755459
CA405140712
19 A>T No ClinGen
TOPMed
gnomAD
CA405140721
rs1236164838
19 A>V No ClinGen
TOPMed
rs750072934
CA9352502
20 P>S No ClinGen
ExAC
gnomAD
rs969075996
CA306818245
21 A>P No ClinGen
TOPMed
CA405140730
rs969075996
21 A>T No ClinGen
TOPMed
CA9352503
rs189187
VAR_056978
22 L>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1599656384
CA405140754
23 V>G No ClinGen
Ensembl
CA9352505
rs753819220
23 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA9352506
rs754863175
24 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1377461074
CA405140755
24 P>T No ClinGen
TOPMed
rs777942561
CA405140766
25 L>S No ClinGen
ExAC
gnomAD
CA9352507
rs777942561
25 L>W No ClinGen
ExAC
gnomAD
rs757515487
CA9352509
27 A>G No ClinGen
ExAC
gnomAD
CA9352508
rs746997794
27 A>S No ClinGen
ExAC
gnomAD
rs531169826
CA9352511
28 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9352514
rs12984378
29 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA405140810
rs12977890
29 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9352512
rs770324421
29 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs12977890
CA9352513
29 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773924540
CA9352516
31 A>T No ClinGen
ExAC
rs761282463
CA9352517
32 R>W No ClinGen
ExAC
gnomAD
CA405140845
rs1342587529
33 L>V No ClinGen
TOPMed
rs1193648880
CA405140851
34 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA405140852
rs1252442263
34 R>L No ClinGen
gnomAD
CA9352519
rs772777085
35 E>D No ClinGen
ExAC
gnomAD
CA405140897
rs1251022155
36 E>G No ClinGen
gnomAD
CA9352520
rs760295998
38 E>G No ClinGen
ExAC
gnomAD
rs1460919277
CA405140936
39 K>T No ClinGen
TOPMed
gnomAD
CA9352553
rs754107926
40 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA306831752
rs982041570
41 V>F No ClinGen
Ensembl
rs1233849223
CA405143354
42 T>A No ClinGen
TOPMed
gnomAD
rs755338534
CA9352554
44 C>Y No ClinGen
ExAC
gnomAD
rs779312870
CA9352555
45 Q>* No ClinGen
ExAC
gnomAD
rs748622875
CA9352556
45 Q>R No ClinGen
ExAC
gnomAD
CA306831760
rs926645667
46 E>K No ClinGen
Ensembl
CA405143446
rs1447814505
47 R>T No ClinGen
gnomAD
TCGA novel 52 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747510327
CA9352584
52 K>Q No ClinGen
ExAC
gnomAD
rs894143952
CA306837649
54 V>G No ClinGen
TOPMed
CA405145776
rs1458501594
55 D>E No ClinGen
TOPMed
gnomAD
CA9352585
rs756805150
56 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1043994721
CA306837654
56 N>S No ClinGen
TOPMed
CA405145809
rs1289038190
57 D>E No ClinGen
gnomAD
CA405145805
rs1278528881
57 D>G No ClinGen
gnomAD
rs780661066
CA9352586
58 Y>C Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA405145881
rs1251134751
62 R>G No ClinGen
gnomAD
rs745532513
CA9352587
62 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 64 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1179516967
CA405145928
65 L>F No ClinGen
gnomAD
CA405145967
rs1251836657
66 S>T No ClinGen
gnomAD
CA405146070
rs1241751277
71 K>Q No ClinGen
Ensembl
CA9352589
rs775159256
71 K>R No ClinGen
ExAC
gnomAD
TCGA novel 75 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 77 M>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 78 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9352624
rs765228231
78 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA405146940
rs765228231
78 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs775821792
CA9352625
79 P>L No ClinGen
ExAC
gnomAD
CA405146958
rs1232026703
80 F>I No ClinGen
gnomAD
rs1012431680
CA306838133
83 F>V No ClinGen
gnomAD
rs757772188
CA9352629
84 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1426620103
CA405146991
84 A>V No ClinGen
gnomAD
CA9352630
rs768125314
86 M>L No ClinGen
ExAC
gnomAD
rs750887254
CA9352631
87 P>S No ClinGen
ExAC
gnomAD
CA306838148
rs750887254
87 P>T No ClinGen
ExAC
gnomAD
rs377763176
CA9352632
90 L>P No ClinGen
ESP
ExAC
gnomAD
rs867728868
CA306838160
93 T>N No ClinGen
Ensembl
rs1311748590
CA405147063
94 N>S No ClinGen
TOPMed
CA306838163
rs996185017
96 V>I No ClinGen
Ensembl
rs1418483482
CA405147098
97 T>S No ClinGen
gnomAD
rs145433944
CA9352634
100 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9352636
rs371470043
101 G>R No ClinGen
ESP
ExAC
gnomAD
CA9352638
rs747895169
102 D>N No ClinGen
ExAC
gnomAD
rs754569782 102 D>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs771980248
CA9352640
103 N>S No ClinGen
ExAC
gnomAD
rs1357688874
CA405147163
104 W>* No ClinGen
gnomAD
CA9352641
rs777834835
105 F>I No ClinGen
ExAC
gnomAD
CA405147191
rs1318145511
107 K>E No ClinGen
TOPMed
gnomAD
CA9352643
rs769970139
107 K>T No ClinGen
ExAC
gnomAD
CA405147225
rs1451429639
110 A>T No ClinGen
gnomAD
rs929285963
CA306838190
112 Q>* No ClinGen
TOPMed
CA9352646
rs768801845
113 A>G No ClinGen
ExAC
gnomAD
CA405147262
rs1257899587
113 A>P No ClinGen
TOPMed
gnomAD
TCGA novel 113 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405147260
rs1257899587
113 A>T No ClinGen
TOPMed
gnomAD
rs370568674
CA405147279
115 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9352648
rs149206403
115 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9352647
rs370568674
115 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149206403
CA9352649
115 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405147286
rs112541086
116 L>I No ClinGen
TOPMed
CA405147320
rs188951746
CA9352652
118 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1452789507
CA405147323
119 H>N No ClinGen
TOPMed
rs753330651
CA9352653
119 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs754690097
CA9352654
120 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA306838230
rs1057098287
120 R>W No ClinGen
TOPMed
gnomAD
rs778768580
CA9352655
121 K>Q No ClinGen
ExAC
gnomAD
CA405147367
rs1288585465
122 E>D No ClinGen
TOPMed
CA9352659
rs200364419
123 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA306821625
rs1036522223
123 H>L No ClinGen
TOPMed
gnomAD
CA405145593
rs1036522223
123 H>R No ClinGen
TOPMed
gnomAD
rs200364419
CA9352657
123 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1323883096
CA405145600
124 V>I No ClinGen
gnomAD
CA9352685
rs200596493
125 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA405145631
rs1470187859
126 K>R No ClinGen
TOPMed
CA9352686
rs772118177
129 D>G No ClinGen
ExAC
gnomAD
rs1318267240
CA405145681
130 D>G No ClinGen
TOPMed
gnomAD
rs1232653363
CA405145726
131 L>F No ClinGen
gnomAD
CA9352687
rs200193659
132 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA9352688
rs747390009
133 K>T No ClinGen
ExAC
TOPMed
rs1568443871 134 V>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1467248906
CA405145781
134 V>L No ClinGen
gnomAD
rs201965478
CA9352689
135 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201965478
CA9352690
135 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1268077881
CA405145832
136 K>R No ClinGen
TOPMed
gnomAD
CA405145829
rs1268077881
136 K>T No ClinGen
TOPMed
gnomAD
CA9352691
rs199910353
137 N>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 138 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 138 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405145897
rs1568443910
139 E>K No ClinGen
Ensembl
rs1265829030
CA405145958
140 S>F No ClinGen
gnomAD
CA405145966
rs1385654392
141 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1164885403
CA405145992
142 V>I No ClinGen
TOPMed
gnomAD
CA9352692
rs201586355
143 E>Q No ClinGen
ExAC
gnomAD
rs1056250739
CA306821655
144 F>I No ClinGen
TOPMed
gnomAD
CA405146058
rs1163333249
145 T>P No ClinGen
gnomAD
TCGA novel 146 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762675293
CA9352694
147 D>G No ClinGen
ExAC
gnomAD
rs553078220
CA9352695
148 L>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751214399
CA9352696
150 K>R No ClinGen
ExAC
gnomAD
CA405146258
CA405146257
rs767273785
152 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA9352700
rs545234427
153 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778969221
CA9352701
153 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs545234427
CA9352699
153 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143348334
CA405146425
154 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143348334
CA405146428
154 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143348334
CA9352723
154 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA405146464
rs1394871675
156 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9352726
rs751752972
157 D>V No ClinGen
ExAC
CA405146503
rs1204354808
158 I>F No ClinGen
gnomAD
CA405146518
rs1179983818
158 I>M No ClinGen
TOPMed
gnomAD
rs373724542
CA9352727
158 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1380308911
CA405146561
160 D>V No ClinGen
gnomAD
rs781696245
CA9352728
161 I>V No ClinGen
ExAC
gnomAD
CA405146600
rs746182493
162 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9352729
rs746182493
162 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1486036777
CA405146610
163 E>* No ClinGen
TOPMed
CA405146693
rs1479341365
166 K>N No ClinGen
TOPMed
gnomAD
CA9352730
rs148342810
167 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148342810
CA405146710
167 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA306821851
rs749777203
170 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9352732
rs749777203
170 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9352752
rs769137217
174 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs778299485
CA9352753
175 H>L No ClinGen
ExAC
gnomAD
CA9352754
rs747714196
175 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs771563788
CA9352755
176 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772890952
CA9352756
176 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA306822898
rs772890952
176 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770656465
CA9352758
177 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 178 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9352759
rs776447992
179 H>R No ClinGen
ExAC
gnomAD
rs1478660014
CA405147146
179 H>Y No ClinGen
gnomAD
rs137929297
CA9352761
181 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145377110
CA9352760
181 P>S No ClinGen
ESP
ExAC
gnomAD
CA9352763
rs762053490
182 H>Y No ClinGen
ExAC
gnomAD
rs767677021
CA9352764
185 P>L No ClinGen
ExAC
gnomAD
CA405147264
rs1288489987
186 K>E No ClinGen
TOPMed
gnomAD
rs750691974
CA9352766
187 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs750691974
CA9352765
187 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs766654829
CA9352767
189 D>A No ClinGen
ExAC
gnomAD
rs201389473
CA405147324
190 I>N No ClinGen
1000Genomes
ExAC
gnomAD
rs201389473
CA9352768
190 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA405147340
rs1227041233
191 F>L No ClinGen
gnomAD
CA405147370
rs1291427726
193 A>G No ClinGen
gnomAD
CA9352769
rs755283442
194 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA306822961
rs190941585
195 I>T No ClinGen
1000Genomes
gnomAD
rs77744376
CA306822966
196 A>S No ClinGen
1000Genomes
gnomAD
CA9352771
rs748622260
197 N>D No ClinGen
ExAC
gnomAD
rs757953945
CA9352772
197 N>S No ClinGen
ExAC
gnomAD
rs35808349
CA9352773
198 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA306822980
rs1034068395
198 D>N No ClinGen
Ensembl
rs1043422475
CA306822985
201 S>Y No ClinGen
TOPMed
CA405147487
rs984305445
202 K>E No ClinGen
TOPMed
gnomAD
CA306822987
rs984305445
202 K>Q No ClinGen
TOPMed
gnomAD
CA9352775
rs770552592
205 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs746696922
CA9352774
205 L>V No ClinGen
ExAC
gnomAD
rs776307122
CA9352776
206 A>G No ClinGen
ExAC
gnomAD
rs1017556157
CA306822998
209 E>K No ClinGen
Ensembl
CA405147612
rs1450997889
210 L>P No ClinGen
gnomAD
rs369899938
CA306823003
213 R>* No ClinGen
ESP
TOPMed
rs769475335
CA9352778
213 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9352779
rs769475335
213 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767732282
CA9352781
215 E>G No ClinGen
ExAC
gnomAD
CA9352780
rs762932076
215 E>K No ClinGen
ExAC
gnomAD
rs892035685
CA306823018
216 E>K No ClinGen
TOPMed
gnomAD
CA9352782
rs773357097
217 L>R No ClinGen
ExAC
rs760817697
CA9352784
220 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA9352785
rs766679979
220 Q>R No ClinGen
ExAC
rs754000804
CA9352786
221 E>Q No ClinGen
ExAC
gnomAD
CA9352788
rs765496747
223 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA405147722
rs1237982024
227 L>H No ClinGen
gnomAD
rs1176707994
CA405147725
228 D>Y No ClinGen
gnomAD
CA405147732
rs1294004282
229 S>G No ClinGen
gnomAD
CA9352801
rs749238754
231 P>S No ClinGen
ExAC
gnomAD
CA405148299
rs749238754
231 P>T No ClinGen
ExAC
gnomAD
CA9352803
rs548314725
232 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA9352802
rs548314725
232 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA279234
RCV000201379
rs863223392
233 T>I No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs770885228
CA9352805
236 A>T No ClinGen
ExAC
CA9352807
rs776960995
237 N>D No ClinGen
ExAC
gnomAD
rs1438087517
CA405148338
237 N>S No ClinGen
gnomAD
CA306823582
rs1007269455
238 G>R No ClinGen
TOPMed
CA9352809
rs759629218
240 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs963007878
CA306823591
241 T>M No ClinGen
TOPMed
gnomAD
TCGA novel 241 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1198711718
CA405148380
244 S>P No ClinGen
TOPMed
rs765622461
CA9352810
245 E>G No ClinGen
ExAC
gnomAD
rs752995238
CA9352811
247 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1201327388
CA405148416
249 E>* No ClinGen
gnomAD
rs763464960
CA9352812
249 E>G No ClinGen
ExAC
gnomAD
rs1247705925
CA405148425
250 D>G No ClinGen
gnomAD
rs764646236
CA9352813
250 D>Y No ClinGen
ExAC
gnomAD
rs373823921
CA9352814
251 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9352815
rs756836475
251 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9352816
rs780549472
252 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1475597277
CA405148444
253 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs150496764
CA9352817
255 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405148470
rs138648155
257 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138648155
CA9352818
257 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405148476
rs1388179006
258 M>T No ClinGen
gnomAD
rs1409258435
CA405148484
259 H>P No ClinGen
TOPMed
TCGA novel 260 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749149659
CA9352820
261 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1165213845
CA405148503
262 T>A No ClinGen
TOPMed
CA405148515
rs1325704849
263 D>E No ClinGen
gnomAD
CA306823635
rs1051437501
265 H>R No ClinGen
gnomAD
rs768566007
CA9352821
265 H>Y No ClinGen
ExAC
gnomAD
rs1232561088
CA405148533
266 T>I No ClinGen
gnomAD
rs1178794281
CA405148545
268 C>F No ClinGen
TOPMed
CA9352823
rs779032285
269 H>P No ClinGen
ExAC
gnomAD
rs1481336543
CA405148550
269 H>Y No ClinGen
TOPMed
CA9352824
rs748013549
271 D>V No ClinGen
ExAC
gnomAD
CA306823649
rs888876093
272 V>A No ClinGen
TOPMed
gnomAD
CA405148573
rs888876093
272 V>D No ClinGen
TOPMed
gnomAD
CA405148570
rs1211898672
272 V>I No ClinGen
TOPMed
gnomAD
rs112774025
CA9352825
273 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA306823653
rs112774025
273 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1039874668
CA306823656
274 S>N No ClinGen
Ensembl
CA405148584
rs1400204759
274 S>R No ClinGen
Ensembl
rs1478454502
CA405148614
279 S>R No ClinGen
gnomAD
TCGA novel 280 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9352827
rs759809910
281 Q>* No ClinGen
ExAC
gnomAD
CA306823673
rs148462749
283 N>H No ClinGen
ESP
TOPMed
gnomAD
rs769948220
CA405148663
285 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA9352829
rs775678023
286 L>F No ClinGen
ExAC
gnomAD
rs371310852
CA9352830
288 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9352832
rs752161061
289 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA405148700
rs1441449831
291 N>S No ClinGen
TOPMed
CA9352834
rs376103188
292 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9352833
rs376103188
292 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1346190598
CA405148719
294 S>I No ClinGen
TOPMed
gnomAD
CA405148722
rs1310446292
295 S>T No ClinGen
gnomAD
rs926723943
CA306823706
296 Y>C No ClinGen
TOPMed
CA306823710
rs936653581
297 H>Y No ClinGen
TOPMed
rs200466034
CA306823759
299 D>G No ClinGen
Ensembl
CA405148760
rs1599726216
300 D>G No ClinGen
Ensembl
CA405148769
rs1287136418
301 D>G No ClinGen
TOPMed
rs1490293835
CA405148765
301 D>N No ClinGen
TOPMed
CA405148786
rs1218258166
303 D>G No ClinGen
TOPMed
rs1218258166
CA405148787
303 D>V No ClinGen
TOPMed
rs1052116322
CA306823769
303 D>Y No ClinGen
TOPMed
TCGA novel 304 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755670302
CA9352845
305 D>G No ClinGen
ExAC
gnomAD
CA306823789
rs113183389
307 D>E No ClinGen
1000Genomes
ExAC
TOPMed
CA9352853
rs753508308
308 D>G No ClinGen
ExAC
gnomAD
rs1599726385
CA405148820
308 D>N No ClinGen
Ensembl
TCGA novel 309 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9352856
rs748149375
309 D>G No ClinGen
ExAC
gnomAD
rs778801300
CA9352855
309 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA405148836
rs1480376780
310 D>G No ClinGen
TOPMed
rs781346860
CA9352858
310 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA405148834
rs781346860
310 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs769862941
CA9352861
311 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 311 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9352862
rs775731438
312 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA9352863
rs749493622
312 N>S No ClinGen
ExAC
gnomAD
rs1337508378
CA405148855
313 I>N No ClinGen
TOPMed
gnomAD
rs1337508378
CA405148857
313 I>T No ClinGen
TOPMed
gnomAD
CA306823831
rs763315367
313 I>V No ClinGen
TOPMed
gnomAD
CA405148863
rs1599726470
314 D>G No ClinGen
Ensembl
CA9352866
rs188172144
316 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA405148906
rs1232997738
320 N>D No ClinGen
gnomAD
TCGA novel 320 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1428706394
CA405148919
321 D>E No ClinGen
gnomAD
CA306823843
rs983016660
321 D>N No ClinGen
TOPMed
gnomAD
CA9352868
rs773761081
322 H>R No ClinGen
ExAC
gnomAD
CA405148922
rs1568447062
322 H>Y No ClinGen
Ensembl
rs1456046009
CA405148929
323 E>G No ClinGen
gnomAD
CA9352869
rs145352288
323 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA306823846
rs145352288
323 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 323 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs151025990
CA9352870
324 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA405148941
rs1380516222
325 L>S No ClinGen
gnomAD
CA9352871
rs753567522
327 V>A No ClinGen
ExAC
gnomAD
CA9352872
rs540138830
330 N>D No ClinGen
1000Genomes
ExAC
gnomAD
CA9352875
rs758201066
332 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA9352874
rs201534752
332 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777640300
CA9352876
333 P>L No ClinGen
ExAC
gnomAD
CA9352877
rs746921538
335 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs756237766
CA9352878
336 Y>H No ClinGen
ExAC
gnomAD
rs1374328459
CA405149007
336 Y>S No ClinGen
gnomAD
rs1386384116
CA405149031
339 H>R No ClinGen
gnomAD
rs1374135298
CA405149035
340 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 340 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1299668206
CA405149061
344 K>E No ClinGen
gnomAD
TCGA novel 346 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748378354
CA9352904
347 R>* No ClinGen
ExAC
gnomAD
TCGA novel 347 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405149098
rs1488720868
347 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1192668290
CA405149119
350 T>I No ClinGen
gnomAD
CA405149222
rs1172225795
364 E>A No ClinGen
TOPMed
rs1475906011
CA405149225
364 E>D No ClinGen
TOPMed
CA9352908
rs778158912
367 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747521758
CA9352909
367 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA405149254
rs1222781830
369 R>* No ClinGen
TOPMed
gnomAD
CA306824750
rs771507685
369 R>L No ClinGen
ExAC
gnomAD
CA9352910
rs771507685
369 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1298006709
CA405149269
371 N>I No ClinGen
TOPMed
gnomAD
CA9352911
rs777265326
372 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA405149290
rs1402454031
374 G>V No ClinGen
TOPMed
gnomAD
rs1271256746
CA405149292
375 S>G No ClinGen
gnomAD
rs1377900049
CA405149295
375 S>I No ClinGen
gnomAD
rs759185458
CA405149302
376 G>A No ClinGen
ExAC
gnomAD
rs759185458
CA9352912
376 G>D No ClinGen
ExAC
gnomAD
CA9352913
rs769319004
377 H>Q No ClinGen
ExAC
gnomAD
CA306824765
rs149845017
378 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149845017
CA9352914
378 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762620133
CA9352915
379 A>V No ClinGen
ExAC
gnomAD
CA9352916
rs763829751
380 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs202176858
CA9352917
382 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA9352919
rs367598872
383 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA405149343
rs367598872
383 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs755058946
CA9352921
384 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA9352922
rs778999345
386 R>G No ClinGen
ExAC
gnomAD
CA9352923
rs778999345
386 R>W No ClinGen
ExAC
gnomAD
CA405149362
rs1158251941
387 T>A No ClinGen
gnomAD
CA9352924
rs758579896
387 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA405149365
rs758579896
387 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1338779708
CA405149374
389 A>S No ClinGen
TOPMed
CA306824819
rs1012029652
392 Y>C No ClinGen
Ensembl
CA405149432
rs1330312899
396 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs779447454
CA9352952
398 V>A No ClinGen
ExAC
gnomAD
rs1326119031
CA405149453
399 V>L No ClinGen
TOPMed
TCGA novel 404 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768120343
CA9352954
406 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140683632
CA9352955
406 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199895593
CA306825445
408 S>F No ClinGen
1000Genomes
TCGA novel 410 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202122748
CA9352956
414 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771884253
CA9352957
414 S>N No ClinGen
ExAC
gnomAD
rs201902251
CA9352959
417 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA9352960
rs760542711
418 S>N No ClinGen
ExAC
gnomAD
rs766397820
CA405149581
418 S>R No ClinGen
ExAC
gnomAD
rs1322444534
CA405149583
419 V>M No ClinGen
gnomAD
rs371849144
CA9352963
421 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9352964
rs764248291
422 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751855285
CA9352965
423 T>A No ClinGen
ExAC
gnomAD
rs200140311
CA9352966
424 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA9352969
rs756425384
425 E>G No ClinGen
ExAC
gnomAD
CA9352968
rs750745898
425 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA405149637
rs1289428133
427 S>G No ClinGen
gnomAD
rs962636548
CA306825536
428 A>G No ClinGen
TOPMed
CA9352970
rs780647923
428 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 430 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749733546
CA9352971
433 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA306825538
rs1043876
434 R>G No ClinGen
Ensembl
rs778352287
CA9352973
435 R>Q Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9352972
rs754502991
435 R>W No ClinGen
ExAC
gnomAD
rs1374344156
CA405149694
436 G>R No ClinGen
gnomAD
rs1599729263
CA405149705
437 V>G No ClinGen
Ensembl
CA405149707
rs747802047
438 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1162351179
CA405149716
439 R>K No ClinGen
TOPMed
gnomAD
CA405149715
rs1162351179
439 R>M No ClinGen
TOPMed
gnomAD
rs1599729281
CA405149727
440 S>R No ClinGen
Ensembl
rs1388134826
CA405149730
441 I>F No ClinGen
TOPMed
gnomAD
CA405149729
rs1388134826
441 I>V No ClinGen
TOPMed
gnomAD
rs772726084
CA9352976
444 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA405149751
rs772726084
444 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 445 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 445 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9352978
rs770601535
447 T>A No ClinGen
ExAC
gnomAD
rs776680830
CA405149784
448 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA306825585
rs960201188
449 S>G No ClinGen
TOPMed
CA405149807
rs1426992325
452 S>G No ClinGen
TOPMed
CA405149824
rs1453684819
454 S>G No ClinGen
TOPMed
TCGA novel 454 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs916010752
CA306825595
456 L>V No ClinGen
TOPMed
rs764303297
CA9352981
457 E>K No ClinGen
ExAC
gnomAD
CA9352982
rs200935752
459 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1293008742
CA405149875
461 Q>R No ClinGen
gnomAD
CA405149882
rs1264469709
462 E>A No ClinGen
gnomAD
rs1215155418
CA405149880
462 E>Q No ClinGen
gnomAD
rs1215320983
CA405149937
469 P>L No ClinGen
TOPMed
rs750610418
CA9352985
470 L>S No ClinGen
ExAC
gnomAD
rs1366149091
CA405149948
471 S>L No ClinGen
gnomAD
CA306825639
rs956815854
471 S>P No ClinGen
TOPMed
gnomAD
rs761163095
CA9352986
472 V>I No ClinGen
ExAC
gnomAD
CA405149958
rs1568449171
473 T>I No ClinGen
Ensembl
CA405149964
rs1370841788
474 P>L No ClinGen
TOPMed
CA9352987
rs764548214
474 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs986967061
CA306826775
476 A>T No ClinGen
TOPMed
CA9353019
rs759872904
478 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 478 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405150173
rs1489352401
481 V>L No ClinGen
Ensembl
CA9353022
rs753197749
482 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA9353021
rs373253999
482 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1568450542
CA405150185
482 I>V No ClinGen
Ensembl
CA405150206
rs1456066999
483 E>G No ClinGen
TOPMed
TCGA novel 485 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9353023
rs546240679
487 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1194138839
CA405150279
488 S>L No ClinGen
gnomAD
CA306826800
rs919984169
490 S>F No ClinGen
TOPMed
CA9353026
rs756817121
491 L>* No ClinGen
ExAC
rs1233237269
CA405150305
491 L>V No ClinGen
gnomAD
rs376131445
CA9353027
492 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405150332
rs1309045827
493 P>S No ClinGen
TOPMed
rs749183650
CA9353031
494 P>L No ClinGen
ExAC
gnomAD
CA405150345
rs1256816514
494 P>S No ClinGen
gnomAD
rs1256816514
CA405150344
494 P>T No ClinGen
gnomAD
CA405150354
rs77842821
495 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs773128187
CA9353033
495 P>L No ClinGen
ExAC
gnomAD
CA9353032
rs77842821
495 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs77842821
CA405150352
495 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1432372950
CA405150367
496 A>S No ClinGen
gnomAD
CA9353037
rs140860233
499 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1393179040
CA405150430
500 P>L No ClinGen
TOPMed
rs199962604
CA9353039
501 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA9353038
rs199962604
501 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775988779
CA9353041
506 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs775988779
CA405150498
506 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA306826843
rs143034255
508 R>* No ClinGen
ESP
TOPMed
gnomAD
rs763301059
CA9353042
508 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 509 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763688609
CA9353043
509 K>T No ClinGen
ExAC
gnomAD
CA9353045
rs756765111
512 L>P No ClinGen
ExAC
gnomAD
CA405150615
rs750090894
515 A>P No ClinGen
ExAC
gnomAD
rs750090894
CA9353047
515 A>T No ClinGen
ExAC
gnomAD
CA405150636
rs1207853022
516 S>C No ClinGen
TOPMed
gnomAD
CA405150628
rs1486062255
516 S>P No ClinGen
TOPMed
rs1207853022
CA405150633
516 S>Y No ClinGen
TOPMed
gnomAD
rs749271708
CA9353050
518 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs779931177
CA9353049
518 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs990036209
CA306826855
519 T>A No ClinGen
Ensembl
rs778888795
CA9353052
520 G>V No ClinGen
ExAC
gnomAD
CA405150709
rs1426813016
522 R>K No ClinGen
gnomAD
CA405150722
rs1167908717
523 V>I No ClinGen
TOPMed
gnomAD
CA9353055
rs771039160
525 K>N No ClinGen
ExAC
gnomAD
rs1367816271
CA405150797
528 A>D No ClinGen
gnomAD
rs746031732
CA9353056
528 A>P No ClinGen
ExAC
gnomAD
TCGA novel 529 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1406147554
CA405150812
529 A>V No ClinGen
gnomAD
CA9353059
rs185999361
531 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs185999361
CA9353058
531 L>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9353060
rs764555561
532 Q>H No ClinGen
ExAC
gnomAD
rs774887145
CA9353061
533 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA405150873
rs1293717299
534 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1490445060
CA405150885
535 D>N No ClinGen
gnomAD

No associated diseases with O94763

No regional properties for O94763

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O94763

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Mitochondrion
  • Cell projection, dendrite
  • Colocalizes with PFDN2, PFDN4, PPP1CC, RPS6KB1 and STAP1 at mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
chaperone complex A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.
RPAP3/R2TP/prefoldin-like complex A protein complex first characterized in human and comprised of a R2TP module (R2TP complex), a prefoldin-like module (containing both prefoldin-like proteins and canonical prefoldins), WD40 repeat protein Monad/WDR92 and DNA-dependent RNA polymerase subunit RPB5. This complex might have chaperone activity.

6 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
phosphatase inhibitor activity Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.
phosphoprotein binding Binding to a phosphorylated protein.
protein phosphatase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein phosphatase, an enzyme that hydrolyzes phosphate groups from phosphorylated proteins.
RNA polymerase II complex binding Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits.
transcription corepressor activity A transcription coregulator activity that represses or decreases 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. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors 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.

9 GO annotations of biological process

Name Definition
cellular response to growth factor stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
cellular response to steroid hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus.
negative regulation of intrinsic apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway.
negative regulation of phosphatase activity Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to virus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3B7M7 URI1 Unconventional prefoldin RPB5 interactor Bos taurus (Bovine) PR
Q3TLD5 Uri1 Unconventional prefoldin RPB5 interactor Mus musculus (Mouse) PR
10 20 30 40 50 60
MEAPTVETPP DPSPPSAPAP ALVPLRAPDV ARLREEQEKV VTNCQERIQH WKKVDNDYNA
70 80 90 100 110 120
LRERLSTLPD KLSYNIMVPF GPFAFMPGKL VHTNEVTVLL GDNWFAKCSA KQAVGLVEHR
130 140 150 160 170 180
KEHVRKTIDD LKKVMKNFES RVEFTEDLQK MSDAAGDIVD IREEIKCDFE FKAKHRIAHK
190 200 210 220 230 240
PHSKPKTSDI FEADIANDVK SKDLLADKEL WARLEELERQ EELLGELDSK PDTVIANGED
250 260 270 280 290 300
TTSSEEEKED RNTNVNAMHQ VTDSHTPCHK DVASSEPFSG QVNSQLNCSV NGSSSYHSDD
310 320 330 340 350 360
DDDDDDDDDD DNIDDDDGDN DHEALGVGDN SIPTIYFSHT VEPKRVRINT GKNTTLKFSE
370 380 390 400 410 420
KKEEAKRKRK NSTGSGHSAQ ELPTIRTPAD IYRAFVDVVN GEYVPRKSIL KSRSRENSVC
430 440 450 460 470 480
SDTSESSAAE FDDRRGVLRS ISCEEATCSD TSESILEEEP QENQKKLLPL SVTPEAFSGT
490 500 510 520 530
VIEKEFVSPS LTPPPAIAHP ALPTIPERKE VLLEASEETG KRVSKFKAAR LQQKD