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 Q8WTV1

Entry ID Method Resolution Chain Position Source
AF-Q8WTV1-F1 Predicted AlphaFoldDB

228 variants for Q8WTV1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA564864
rs753867014
2 P>A Variant assessed as Somatic; 0.001521 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1479389223
CA338104538
2 P>L No ClinGen
gnomAD
rs1479389223
CA338104536
2 P>Q No ClinGen
gnomAD
CA338104537
rs1479389223
2 P>R No ClinGen
gnomAD
rs753867014
CA338104535
2 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs547107923
CA17204778
4 S>* No ClinGen
1000Genomes
gnomAD
rs547107923
CA338104551
4 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
CA338104547
rs1377923726
4 S>T No ClinGen
gnomAD
CA338104558
rs1386580899
5 C>* No ClinGen
gnomAD
rs1303129217
CA338104562
6 A>E No ClinGen
gnomAD
CA17204796
rs369274159
6 A>T No ClinGen
TOPMed
gnomAD
CA564866
rs779307847
7 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA338104571
rs1236920158
8 R>Q No ClinGen
TOPMed
rs753064234
CA17204831
8 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA564868
rs758728231
9 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA338104579
rs1486264213
9 Q>H No ClinGen
gnomAD
rs778157783
CA564869
10 C>* No ClinGen
ExAC
gnomAD
CA338104584
rs1221872845
10 C>Y No ClinGen
gnomAD
TCGA novel 11 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338104606
rs1201429673
13 R>C No ClinGen
TOPMed
gnomAD
rs1201429673
CA338104605
13 R>G No ClinGen
TOPMed
gnomAD
rs1201429673
CA338104604
13 R>S No ClinGen
TOPMed
gnomAD
rs905788557
CA17204854
14 Y>H No ClinGen
TOPMed
gnomAD
rs868062432
CA17204860
15 S>G No ClinGen
gnomAD
rs1156539812
CA338104625
16 S>G No ClinGen
gnomAD
CA17204875
rs746647553
17 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA564871
rs756966804
17 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA564870
rs746647553
17 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA17204888
rs950385390
18 R>G No ClinGen
TOPMed
rs1363089029
CA338104636
18 R>K No ClinGen
gnomAD
CA338104685
rs1390009464
24 H>Q No ClinGen
gnomAD
CA17204918
rs892962157
25 R>Q No ClinGen
TOPMed
gnomAD
rs1197031733
CA338104687
25 R>W No ClinGen
gnomAD
CA564896
rs768719482
26 F>L No ClinGen
ExAC
gnomAD
CA564897
rs774229807
27 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA338105038
rs934180641
29 S>G No ClinGen
TOPMed
CA17208041
rs934180641
29 S>R No ClinGen
TOPMed
CA564899
rs369052326
30 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1222696382
CA338105053
30 R>L No ClinGen
gnomAD
COSM1645054
rs759848734
COSM1645053
CA564901
31 P>L NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs34754396
CA564902
32 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763381183
CA564904
34 L>V No ClinGen
ExAC
gnomAD
TCGA novel 36 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338105120
rs1423033643
37 W>R No ClinGen
TOPMed
gnomAD
CA564906
rs751885098
39 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA338105165
rs1431813731
41 I>V No ClinGen
gnomAD
CA564908
rs200520987
42 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 43 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs535553078
CA564910
43 R>P No ClinGen
ExAC
gnomAD
rs535553078
CA564911
43 R>Q No ClinGen
ExAC
gnomAD
rs750032980
CA564909
43 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs753410472
CA564912
44 G>D No ClinGen
ExAC
gnomAD
rs1341089762
TCGA novel
CA338105236
46 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
rs754913322
CA564914
47 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs754913322
CA564913
47 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1182169853
CA338105266
49 K>R No ClinGen
TOPMed
rs138429240
CA564916
52 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 53 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338105350
rs1263233057
57 E>K No ClinGen
TOPMed
gnomAD
rs896128419
CA17208144
58 H>Q No ClinGen
TOPMed
COSM460483
CA338105403
COSM460484
rs1369644723
60 R>Q cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA564920
COSM1296654
COSM1296655
rs775502432
60 R>W Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA338105444
rs969963825
63 C>F No ClinGen
gnomAD
CA338105440
rs1158252465
63 C>G No ClinGen
gnomAD
CA17208157
rs969963825
63 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1402625885
CA338105467
65 S>N No ClinGen
gnomAD
COSM1343981
CA564926
COSM1343982
rs141186206
66 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA338105526
rs1301209531
70 R>C No ClinGen
TOPMed
gnomAD
CA17208189
rs925967261
70 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1301209531
CA338105524
70 R>S No ClinGen
TOPMed
gnomAD
rs956260127
CA17208195
71 K>E No ClinGen
TOPMed
gnomAD
rs1436899735
CA338105591
76 N>D No ClinGen
gnomAD
CA338105604
rs1278690073
77 A>T No ClinGen
gnomAD
rs766151074
CA338105616
78 V>L No ClinGen
ExAC
gnomAD
rs766151074
COSM179532
CA564928
78 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs759625583
CA564930
83 A>T No ClinGen
ExAC
gnomAD
CA338105675
rs1292608067
84 F>L No ClinGen
gnomAD
CA564931
rs778613470
84 F>L No ClinGen
ExAC
gnomAD
CA17208217
rs1052645964
86 D>G No ClinGen
TOPMed
CA564932
rs140604454
86 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA564934
rs537888582
88 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs746831051
CA564935
88 T>I No ClinGen
ExAC
gnomAD
CA338105736
rs145543265
89 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1392826603
CA338105732
89 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA564972
rs762497248
91 V>L No ClinGen
ExAC
gnomAD
CA564973
rs148747343
95 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338106194
rs1265379271
96 D>A No ClinGen
gnomAD
CA17210038
rs980105679
100 E>D No ClinGen
TOPMed
rs1211016063
CA338106280
103 N>S No ClinGen
TOPMed
TCGA novel 104 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA564974
rs751504961
105 S>C No ClinGen
ExAC
gnomAD
CA564975
rs751504961
105 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA564976
rs767233065
106 S>F No ClinGen
ExAC
gnomAD
rs755146033
CA564978
111 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA564980
rs779225171
111 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1223595593
CA338106909
112 V>L No ClinGen
gnomAD
CA565010
rs750706494
113 L>F No ClinGen
ExAC
gnomAD
rs140557311
CA565012
116 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373747883
CA17212518
118 A>T No ClinGen
ESP
TOPMed
gnomAD
COSM164894
CA565014
rs761344816
119 G>R breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs771608654
TCGA novel
CA565015
120 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
CA338107016
rs1339397467
122 S>G No ClinGen
gnomAD
CA565016
rs546107115
124 G>R No ClinGen
1000Genomes
ExAC
TCGA novel 127 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570249374
CA338107076
127 M>T No ClinGen
Ensembl
CA338107086
rs1166103898
128 D>G No ClinGen
gnomAD
rs984131286
CA17212560
129 T>I No ClinGen
TOPMed
rs984131286
CA338107092
129 T>S No ClinGen
TOPMed
rs1006757518
CA17212575
131 L>F No ClinGen
TOPMed
gnomAD
rs1372906548
CA338107103
131 L>P No ClinGen
gnomAD
rs1464370844
CA338107108
132 E>A No ClinGen
gnomAD
rs760663736
CA565017
133 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1452101426
CA338107125
134 L>P No ClinGen
gnomAD
CA17212585
rs141076446
137 P>L No ClinGen
ESP
TOPMed
rs200857332
CA565019
137 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200857332
CA338107141
137 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763173810
CA565020
140 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs763173810
CA338107159
140 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1216595540
CA338107164
141 E>K No ClinGen
gnomAD
CA338107186
rs1457938284
144 V>I No ClinGen
gnomAD
CA338107188
rs1457938284
144 V>L No ClinGen
gnomAD
rs780823903
CA565083
148 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1570250486
CA338107226
148 S>P No ClinGen
Ensembl
CA565085
rs370586850
150 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA17213062
rs909237901
150 R>W No ClinGen
TOPMed
gnomAD
rs775380989
CA565086
152 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 154 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768612952
CA565088
154 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA338107265
rs1379154055
155 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 156 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773285992
CA565091
156 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA565092
rs374301912
157 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770909999
CA565093
158 V>G No ClinGen
ExAC
gnomAD
CA565094
rs368208795
160 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA17213122
rs1036468102
160 R>W No ClinGen
TOPMed
gnomAD
CA565095
rs527839453
161 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA17213134
rs774221136
162 T>I No ClinGen
Ensembl
CA565097
rs753015981
163 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA338107313
rs1219519809
164 P>H No ClinGen
gnomAD
rs763269589
CA565098
164 P>S No ClinGen
ExAC
gnomAD
CA565099
rs764488843
165 A>E No ClinGen
ExAC
gnomAD
rs1202283539
CA338107331
167 L>P No ClinGen
gnomAD
CA565102
rs780514626
168 R>T No ClinGen
ExAC
gnomAD
rs756075794
CA565104
169 R>G No ClinGen
ExAC
gnomAD
CA565105
rs780109611
169 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs780109611
CA565106
169 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA565108
rs768560025
170 T>N No ClinGen
ExAC
gnomAD
rs894726462
CA17213183
171 P>A No ClinGen
gnomAD
CA338107350
rs778833462
171 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs778833462
CA565109
171 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA565110
rs768734646
172 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA338107354
rs768734646
172 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1013622310
CA17213206
173 K>R No ClinGen
gnomAD
CA17213208
rs371391569
174 Q>K No ClinGen
ESP
TOPMed
gnomAD
CA338107382
rs1404950113
176 S>C No ClinGen
TOPMed
CA17213209
rs968143932
178 H>Y No ClinGen
TOPMed
rs769897940
CA565114
179 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA565115
rs775951800
180 Y>C No ClinGen
ExAC
gnomAD
rs1275576197
CA338107413
181 A>T No ClinGen
gnomAD
CA338107448
rs1215858744
186 D>H No ClinGen
TOPMed
gnomAD
CA338107460
rs1334297807
187 S>F No ClinGen
TOPMed
rs1205505760
CA338107464
188 L>P No ClinGen
TOPMed
gnomAD
rs751969506
CA565119
189 K>N No ClinGen
ExAC
rs1200538170
CA338107488
191 K>N No ClinGen
gnomAD
rs1431151852
CA338107485
191 K>R No ClinGen
gnomAD
rs1156249024
CA338107505
194 L>F No ClinGen
gnomAD
rs375711723
CA565121
196 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 197 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338107567
rs1388811902
203 R>P No ClinGen
TOPMed
gnomAD
CA338107566
rs1388811902
COSM1343986
203 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA565124
rs545814166
203 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1017035532
CA338107570
204 K>* No ClinGen
TOPMed
gnomAD
CA17213288
rs1017035532
204 K>Q No ClinGen
TOPMed
gnomAD
CA338107572
rs1570251075
204 K>R No ClinGen
Ensembl
CA565125
rs779769784
205 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs753824698
CA565126
205 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs753824698
CA338107579
205 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1239662577
CA338107597
208 A>S No ClinGen
gnomAD
CA565127
rs754969164
209 Q>E No ClinGen
ExAC
gnomAD
CA338107610
rs1211314845
210 R>K No ClinGen
TOPMed
gnomAD
rs1570251159
CA338107624
212 V>G No ClinGen
Ensembl
CA338107620
rs923136991
212 V>L No ClinGen
TOPMed
gnomAD
CA17213308
rs923136991
212 V>M No ClinGen
TOPMed
gnomAD
CA565128
rs369312220
213 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA338107629
rs1461060233
213 M>T No ClinGen
TOPMed
rs187819489
CA565129
214 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs187819489
CA565130
214 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA565131
rs371978899
214 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA565132
rs746134707
215 R>S No ClinGen
ExAC
gnomAD
rs1459750537
CA338107647
216 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs769848636
CA565134
218 S>R No ClinGen
ExAC
gnomAD
CA565136
rs142247203
219 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142247203
CA565137
219 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774544046
CA565138
219 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 220 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA565140
rs767821207
220 L>V No ClinGen
ExAC
gnomAD
rs539489716
CA565141
221 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760472872
CA565142
221 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs760472872
CA338107673
221 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1570251381
CA338107686
223 C>S No ClinGen
Ensembl
TCGA novel 223 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs948641451
CA17213371
224 K>R No ClinGen
TOPMed
rs765918931
CA565143
225 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1557458820
CA338107703
226 H>D No ClinGen
Ensembl
CA338107706
rs1316938737
226 H>L No ClinGen
gnomAD
rs753410343
CA565144
226 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs558041358
CA565145
227 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA338107712
rs1570251482
227 Q>H No ClinGen
Ensembl
rs3174820
CA338107711
227 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3174820
CA338107710
227 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3174820
CA565146
227 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752612297
CA565147
228 G>R No ClinGen
ExAC
gnomAD
CA565148
rs56014220
229 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs111498328
CA565149
229 L>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338107730
rs1423338593
CA338107729
230 Q>H No ClinGen
TOPMed
gnomAD
rs1166118198
CA338107727
230 Q>R No ClinGen
TOPMed
gnomAD
rs879152397
CA17213414
232 R>S No ClinGen
TOPMed
rs746083160
CA565150
232 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1355234738
CA338107744
233 L>V No ClinGen
TOPMed
gnomAD
rs938788677
CA17213425
234 G>E No ClinGen
gnomAD
CA338107748
rs1465624498
234 G>R No ClinGen
gnomAD
rs756344168
CA338107759
236 E>K No ClinGen
ExAC
gnomAD
rs756344168
CA565152
236 E>Q No ClinGen
ExAC
gnomAD
rs1339595040
CA338107773
237 Q>H No ClinGen
TOPMed
gnomAD
rs1293745380
CA338107766
237 Q>K No ClinGen
gnomAD
CA338107778
rs1216455379
238 Q>R No ClinGen
gnomAD
rs867525259
CA17213435
239 S>I No ClinGen
Ensembl
TCGA novel 240 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q8WTV1

1 regional properties for Q8WTV1

Type Name Position InterPro Accession
domain THAP-type zinc finger 1 - 88 IPR006612

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

2 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
metal ion binding Binding to a metal ion.

1 GO annotations of biological process

Name Definition
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MPKSCAARQC CNRYSSRRKQ LTFHRFPFSR PELLKEWVLN IGRGNFKPKQ HTVICSEHFR
70 80 90 100 110 120
PECFSAFGNR KNLKHNAVPT VFAFQDPTQQ VRENTDPASE RGNASSSQKE KVLPEAGAGE
130 140 150 160 170 180
DSPGRNMDTA LEELQLPPNA EGHVKQVSPR RPQATEAVGR PTGPAGLRRT PNKQPSDHSY
190 200 210 220 230
ALLDLDSLKK KLFLTLKENE KLRKRLQAQR LVMRRMSSRL RACKGHQGLQ ARLGPEQQS