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 P0C7V8

Entry ID Method Resolution Chain Position Source
AF-P0C7V8-F1 Predicted AlphaFoldDB

393 variants for P0C7V8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10374702
rs767550922
3 H>Q No ClinGen
ExAC
gnomAD
rs759738501
CA10374701
3 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs796489879
CA328071119
5 E>Q No ClinGen
Ensembl
rs1185276555
CA412621148
9 D>N No ClinGen
TOPMed
CA10374704
rs756619299
10 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1194055831
CA412621178
13 D>G No ClinGen
TOPMed
CA412621183
rs1448928458
14 L>V No ClinGen
TOPMed
CA10374705
rs192806500
15 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412621195
rs1326985086
16 T>A No ClinGen
gnomAD
CA10374706
rs754344752
17 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs183301101
CA10374707
18 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412621217
rs1321871420
19 L>R No ClinGen
gnomAD
CA10374708
rs62623432
20 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10374709
rs745571354
23 P>S No ClinGen
ExAC
gnomAD
rs1389391655
CA412621260
25 E>D No ClinGen
gnomAD
rs1003128073
CA328071120
25 E>K No ClinGen
TOPMed
TCGA novel 26 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs113826309
CA10374710
30 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746501868
CA10374712
31 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1266440439
CA412621303
32 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10374714
rs1569200707
33 T>F No ClinGen
Ensembl
rs1199443413
CA412621307
33 T>K No ClinGen
gnomAD
CA328071121
rs941334021
35 A>S No ClinGen
Ensembl
rs1460438407
CA412621332
37 S>L No ClinGen
gnomAD
CA412621339
rs1170179213
38 D>G No ClinGen
gnomAD
rs375379571
CA328071122
39 I>V No ClinGen
gnomAD
CA412621349
rs1372549063
40 D>N No ClinGen
gnomAD
CA412621369
rs1327707730
42 A>V No ClinGen
TOPMed
CA412621375
rs1430580003
43 T>I No ClinGen
gnomAD
rs769583415
CA10374718
52 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1602822875
CA412621427
52 G>R No ClinGen
Ensembl
TCGA novel 59 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412621489
rs1276140430
60 G>D No ClinGen
gnomAD
TCGA novel 60 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1342276847
CA412621491
61 G>R No ClinGen
gnomAD
CA412621510
rs1221196809
63 P>L No ClinGen
gnomAD
CA10374719
rs199614366
65 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412621529
rs1191521291
66 A>D No ClinGen
gnomAD
CA412621530
rs1191521291
66 A>G No ClinGen
gnomAD
rs1168457286
CA412621527
66 A>P No ClinGen
TOPMed
CA412621546
rs1449476551
69 E>K No ClinGen
TOPMed
gnomAD
rs1449476551
CA412621547
69 E>Q No ClinGen
TOPMed
gnomAD
CA412621563
rs1260857366
71 R>* No ClinGen
gnomAD
CA412621570
rs1270142489
72 S>N No ClinGen
gnomAD
rs1198343751
CA412621576
73 S>P No ClinGen
TOPMed
CA10374720
rs772690346
74 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs758559050
CA10374721
75 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA10374722
rs61739703
CA10374723
77 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1163117597
CA412621610
78 A>P No ClinGen
TOPMed
gnomAD
rs1163117597
CA412621611
78 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs760812430
CA412621618
79 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760812430
CA10374725
79 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767437527
CA328071125
84 L>F No ClinGen
TOPMed
CA412621669
rs1459679252
86 S>N No ClinGen
gnomAD
CA412621691
rs1294485367
89 D>Y No ClinGen
TOPMed
gnomAD
rs1380971696
CA412621715
92 H>Y No ClinGen
gnomAD
rs757832106
CA10374726
95 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA412621759
rs1300457920
95 M>K No ClinGen
gnomAD
CA412621775
rs1411593853
96 S>N No ClinGen
TOPMed
rs1569200904
CA412621864
103 Y>N No ClinGen
Ensembl
CA10374727
rs765751981
104 P>S No ClinGen
ExAC
gnomAD
CA328071127
rs978167632
106 V>A No ClinGen
TOPMed
TCGA novel 106 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412621917
rs1323137913
107 G>R No ClinGen
gnomAD
TCGA novel 109 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866243275
CA328071128
CA412622066
117 D>E No ClinGen
TOPMed
gnomAD
rs1259866073
CA412622064
117 D>G No ClinGen
gnomAD
CA328071129
rs1036998620
118 E>* No ClinGen
Ensembl
rs1431769234
CA412622098
120 I>L No ClinGen
TOPMed
CA412622105
rs1602823746
120 I>M No ClinGen
Ensembl
rs866054633
CA328071130
126 E>* No ClinGen
Ensembl
rs1602824075
CA412622186
126 E>G No ClinGen
Ensembl
CA412622180
rs866054633
126 E>Q No ClinGen
Ensembl
CA412622198
rs1602824097
127 E>* No ClinGen
Ensembl
CA412622232
rs1602824234
129 E>A No ClinGen
Ensembl
rs1602824316
CA412622243
130 E>K No ClinGen
Ensembl
CA412622264
rs758028919
131 E>G No ClinGen
ExAC
gnomAD
CA10374746
rs758028919
131 E>V No ClinGen
ExAC
gnomAD
rs1602824533
CA412622275
132 E>G No ClinGen
Ensembl
rs1390536129
CA412622289
133 E>A No ClinGen
gnomAD
rs1390536129
CA412622293
133 E>G No ClinGen
gnomAD
rs1452129441
CA412622284
133 E>K No ClinGen
gnomAD
CA412622286
rs1452129441
133 E>Q No ClinGen
gnomAD
rs1602824633
CA412622309
134 E>G No ClinGen
Ensembl
rs1602824633
CA412622310
134 E>V No ClinGen
Ensembl
rs866365853
CA412622330
135 E>D No ClinGen
TOPMed
gnomAD
CA412622327
rs1376737603
135 E>V No ClinGen
TOPMed
CA412622344
rs1380723288
136 E>G No ClinGen
gnomAD
rs779792507
CA412622358
137 E>A No ClinGen
ExAC
gnomAD
CA412622354
rs1305889905
137 E>Q No ClinGen
gnomAD
CA10374748
rs779792507
137 E>V No ClinGen
ExAC
gnomAD
CA10374749
rs751127231
138 E>V No ClinGen
ExAC
CA412622396
rs1602824967
139 E>V No ClinGen
Ensembl
CA412622404
rs1602825037
140 E>A No ClinGen
Ensembl
CA412622399
rs1602825009
140 E>K No ClinGen
Ensembl
rs866793818
CA328071137
141 E>G No ClinGen
Ensembl
rs1602825321
CA412622456
143 E>G No ClinGen
Ensembl
CA412622480
rs763951827
144 E>D No ClinGen
1000Genomes
TOPMed
CA412622476
rs1569201321
144 E>G No ClinGen
Ensembl
CA412622487
rs1361569258
145 E>K No ClinGen
TOPMed
CA412622508
rs1257999618
146 E>G No ClinGen
gnomAD
rs773661469 146 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1204666514
CA412622525
147 E>G No ClinGen
gnomAD
rs1602825773
CA412622533
148 Q>K No ClinGen
Ensembl
rs183895573
CA10374762
150 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780614019
CA10374763
152 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1360348922
CA412622602
153 P>L No ClinGen
TOPMed
gnomAD
CA10374764
rs748152249
154 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 155 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10374765
rs769695775
156 S>G No ClinGen
ExAC
gnomAD
TCGA novel 156 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1602825932
CA412622643
157 G>C No ClinGen
Ensembl
rs749138033
CA10374767
158 G>A No ClinGen
ExAC
gnomAD
rs777466794
CA10374766
158 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775790927
CA10374769
159 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA10374768
rs770582913
159 N>T No ClinGen
ExAC
gnomAD
TCGA novel 162 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412622702
rs1602826074
162 Q>K No ClinGen
Ensembl
rs186732901
CA10374770
162 Q>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10374771
rs768921538
163 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1210887159
CA412622742
164 S>L No ClinGen
gnomAD
CA328071143
rs998504444
167 E>* No ClinGen
Ensembl
CA328071144
rs867674740
167 E>D No ClinGen
gnomAD
rs1184625241
CA412622812
169 Q>R No ClinGen
gnomAD
rs1602826287
CA412622820
170 A>S No ClinGen
Ensembl
CA412622857
rs1189935131
173 E>K No ClinGen
gnomAD
rs762462052
CA10374773
175 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1223007184
CA412622932
178 E>Q No ClinGen
TOPMed
rs1169128381
CA412622947
179 T>A No ClinGen
gnomAD
rs1432397701
CA412622958
180 S>P No ClinGen
gnomAD
CA412622978
rs1490788619
181 A>V No ClinGen
TOPMed
rs1196396916
CA412623001
184 R>G No ClinGen
TOPMed
gnomAD
CA412623005
rs1431192056
184 R>L No ClinGen
gnomAD
rs1431192056
CA412623003
184 R>Q No ClinGen
gnomAD
rs763402322
CA10374776
185 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10374777
rs766595465
187 W>* No ClinGen
ExAC
gnomAD
rs1029609468
CA328071146
187 W>S No ClinGen
Ensembl
rs1402898868
CA412623055
188 Q>P No ClinGen
gnomAD
CA412623075
rs754622044
190 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs754622044
CA10374779
190 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1217674384
CA412623107
191 T>I No ClinGen
TOPMed
CA328071147
rs889600080
194 H>Q No ClinGen
Ensembl
CA10374780
rs780740566
194 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA412623132
rs1340140765
194 H>Y No ClinGen
gnomAD
rs1006746708
CA328071148
196 R>L No ClinGen
gnomAD
CA412623166
rs1006746708
196 R>Q No ClinGen
gnomAD
CA412623226
rs1602826811
201 R>C No ClinGen
Ensembl
rs755579204
CA10374782
201 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10374783
rs192576268
202 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1186460612
CA412623249
203 R>C No ClinGen
gnomAD
CA412623247
rs1186460612
203 R>G No ClinGen
gnomAD
rs1387718138
CA412623250
203 R>H No ClinGen
TOPMed
gnomAD
rs1450829150
CA412623253
204 F>I No ClinGen
gnomAD
rs1168789529
CA412623270
205 V>L No ClinGen
gnomAD
CA10374784
rs753453586
206 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1403290409
CA412623280
206 Y>H No ClinGen
gnomAD
CA412623315
rs1350264353
208 A>V No ClinGen
gnomAD
rs770761059
CA10374785
209 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA412623333
rs1268372070
210 G>R No ClinGen
gnomAD
rs1363057347
CA412623348
211 A>T No ClinGen
TOPMed
gnomAD
CA10374786
rs778565096
212 R>K No ClinGen
ExAC
gnomAD
CA412623370
rs747290313
213 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA10374787
rs747290313
213 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1226877336
CA412623413
216 Q>* No ClinGen
gnomAD
rs1292398178
CA412623427
217 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA412623435
rs776893287
217 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10374789
rs776893287
217 R>L No ClinGen
ExAC
gnomAD
rs754671102
CA10374790
219 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs866230644
CA328071149
219 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 223 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 223 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412623507
rs779233435
223 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA10374792
rs779233435
223 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA10374793
rs779233435
223 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1466678713
CA412623501
223 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10374794
rs766835064
224 L>F No ClinGen
ExAC
gnomAD
CA10374795
rs774566918
226 D>G No ClinGen
ExAC
gnomAD
rs1414197775
CA412623575
229 G>C No ClinGen
gnomAD
CA412623630
rs1481262501
233 T>S No ClinGen
TOPMed
CA412623632
rs1390575808
234 V>I No ClinGen
gnomAD
CA412623710
rs1249357069
239 R>H No ClinGen
TOPMed
rs759237312
CA10374796
240 G>S No ClinGen
ExAC
gnomAD
CA10374798
rs752296463
242 R>Q No ClinGen
ExAC
gnomAD
rs184808826
CA10374797
242 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412623800
rs1357438919
247 G>S No ClinGen
gnomAD
TCGA novel 249 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266672934
CA412623854
251 K>Q No ClinGen
TOPMed
gnomAD
CA10374802
rs757125796
254 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA412623915
rs1209970159
255 W>* No ClinGen
gnomAD
rs1602827513
CA412623949
257 W>L No ClinGen
Ensembl
CA10374803
rs778815167
259 R>P No ClinGen
ExAC
TOPMed
rs868568193
CA328071150
259 R>W No ClinGen
gnomAD
CA328071151
rs61739721
261 R>K No ClinGen
TOPMed
gnomAD
rs758230587
CA412624029
263 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA10374805
rs758230587
263 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA10374809
rs773162776
268 S>T No ClinGen
ExAC
gnomAD
rs896879957
CA328071152
275 F>I No ClinGen
TOPMed
CA412624241
rs1394389182
278 K>N No ClinGen
gnomAD
CA10374810
rs749866387
282 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1035080702
CA328071153
285 D>N No ClinGen
TOPMed
rs1176623983
CA412624389
290 M>I No ClinGen
TOPMed
rs1286838291
CA412624429
293 R>C No ClinGen
gnomAD
rs774798584
CA10374813
296 Q>H No ClinGen
ExAC
gnomAD
rs1209372764
CA412624495
298 R>Q No ClinGen
gnomAD
CA412624493
rs1331318623
298 R>W No ClinGen
gnomAD
CA412624517
rs1229505367
300 A>P No ClinGen
gnomAD
TCGA novel 301 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10374816
rs775127901
304 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA412624580
rs775127901
304 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA412624594
rs1419568161
305 A>E No ClinGen
TOPMed
TCGA novel 311 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10374818
rs763714972
311 T>I No ClinGen
ExAC
gnomAD
CA328071154
rs771074246
313 C>G No ClinGen
1000Genomes
gnomAD
CA412624700
rs771074246
313 C>R No ClinGen
1000Genomes
gnomAD
CA10374820
rs757256245
313 C>Y No ClinGen
ExAC
gnomAD
rs765121695
CA10374821
314 V>L No ClinGen
ExAC
CA328071155
rs1022167335
316 Q>K No ClinGen
TOPMed
gnomAD
TCGA novel 317 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1174390139
CA412624749
317 H>Y No ClinGen
gnomAD
rs181875275
CA412624773
318 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 320 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10374824
rs367592851
321 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA10374825
rs748449236
323 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs977893155
CA328071156
CA412624850
324 L>F No ClinGen
TOPMed
gnomAD
rs1301060508
CA412624883
327 E>D No ClinGen
gnomAD
CA10374826
rs759811140
328 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10374828
rs372484466
331 P>L No ClinGen
ExAC
gnomAD
CA10374829
rs372427910
332 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 333 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs966102479
CA328071157
334 F>L No ClinGen
TOPMed
gnomAD
TCGA novel 336 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 337 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772488367
CA10374832
339 E>A No ClinGen
ExAC
gnomAD
rs111559275
CA328071160
343 V>A No ClinGen
Ensembl
CA10374834
VAR_045620
rs5926895
345 T>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs78540534
CA328071161
345 T>S No ClinGen
Ensembl
CA412625129
rs1454076832
346 I>T No ClinGen
TOPMed
CA412625195
rs1430714333
351 D>V No ClinGen
gnomAD
CA10374837
rs761253838
352 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs761253838
CA412625214
352 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA412625322
rs1388964876
361 R>K No ClinGen
gnomAD
CA412625370
rs1363768259
364 D>G No ClinGen
TOPMed
gnomAD
CA412625368
rs1363768259
364 D>V No ClinGen
TOPMed
gnomAD
rs750395244
CA10374839
365 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA10374840
rs774285351
366 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412625401
rs1342431806
366 K>T No ClinGen
gnomAD
rs1489345812
CA412625438
369 L>P No ClinGen
gnomAD
CA412625450
rs1353206463
370 Y>C No ClinGen
TOPMed
rs1409517035
CA412625462
371 T>A No ClinGen
gnomAD
CA10374843
rs756400313
373 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs777879257
CA10374844
374 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757287423
CA10374846
377 A>T No ClinGen
ExAC
gnomAD
TCGA novel 378 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369460010
CA328071163
378 N>S No ClinGen
gnomAD
TCGA novel 381 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412625592
rs1459789404
381 Q>R No ClinGen
gnomAD
TCGA novel 382 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761676142
CA10374847
382 F>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1388510122
CA412625628
384 V>L No ClinGen
gnomAD
rs746428763
CA10374848
389 Q>H No ClinGen
ExAC
gnomAD
TCGA novel 390 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780433932
CA10374850
392 R>T No ClinGen
ExAC
gnomAD
rs1247482209
CA412625754
393 I>T No ClinGen
TOPMed
rs1324193911
CA412625796
396 Q>R No ClinGen
TOPMed
CA328071164
rs909436093
398 K>R No ClinGen
TOPMed
CA412625842
rs1382438084
399 I>S No ClinGen
TOPMed
rs1382438084
CA412625840
399 I>T No ClinGen
TOPMed
CA412625850
rs1395026269
400 D>Y No ClinGen
gnomAD
CA412625878
rs1310160254
402 K>E No ClinGen
gnomAD
rs1386862155
CA412625885
402 K>I No ClinGen
TOPMed
CA10374851
rs747363358
403 E>G No ClinGen
ExAC
gnomAD
CA412625891
rs1301122335
403 E>K No ClinGen
TOPMed
rs776165375
CA10374853
405 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1326976739
CA412625938
406 G>S No ClinGen
gnomAD
CA10374854
rs761465771
407 V>E No ClinGen
ExAC
gnomAD
rs1249902341
CA412625953
407 V>L No ClinGen
gnomAD
rs368376110
CA10374855
409 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781702266
CA328071165
409 K>R No ClinGen
Ensembl
CA328071166
rs1056165880
414 H>R No ClinGen
TOPMed
gnomAD
CA10374857
rs763034072
415 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1411767718
CA412626085
417 V>I No ClinGen
gnomAD
rs1456061354
CA412626104
418 N>S No ClinGen
gnomAD
rs1449017746
CA412626100
418 N>Y No ClinGen
TOPMed
TCGA novel 421 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868486185
CA412626166
422 P>L No ClinGen
TOPMed
rs868486185
CA328071168
422 P>Q No ClinGen
TOPMed
CA412626162
rs1222264025
422 P>S No ClinGen
TOPMed
rs759260989
CA10374860
428 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs759260989
CA412626240
428 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA412626260
rs1336802957
429 V>A No ClinGen
TOPMed
CA10374862
rs754070602
433 D>N No ClinGen
ExAC
gnomAD
TCGA novel 438 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779012547
CA10374864
440 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs750469981
CA10374866
442 N>S No ClinGen
ExAC
gnomAD
rs750469981
CA10374865
442 N>T No ClinGen
ExAC
gnomAD
rs780562926
CA10374867
443 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA10374869
rs747493517
444 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs966189526
CA328071169
445 D>N No ClinGen
TOPMed
rs976570296
CA328071170
450 N>S No ClinGen
TOPMed
TCGA novel 451 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA328071171
rs1029038901
452 S>P No ClinGen
TOPMed
CA10374871
rs185264593
453 H>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs185264593
CA10374870
453 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10374872
rs769551706
454 S>T No ClinGen
ExAC
gnomAD
rs1427407179
CA412626540
459 Y>H No ClinGen
TOPMed
CA10374875
rs770506122
462 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 470 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1203029171
CA412626635
472 V>I No ClinGen
TOPMed
rs759509987
CA10374877
473 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs77842814
CA328071173
476 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA10374879
rs775333139
478 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA412626681
rs1466181631
479 G>S No ClinGen
TOPMed
gnomAD
CA10374880
rs762061938
480 P>S No ClinGen
ExAC
gnomAD
CA10374881
rs765473427
482 S>N No ClinGen
ExAC
gnomAD
rs1411393990
CA412626728
486 V>L No ClinGen
gnomAD
CA412626738
rs1288803692
487 S>T No ClinGen
gnomAD
rs375048390
CA10374882
488 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 489 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA328071174
rs770168129
491 C>R No ClinGen
Ensembl
CA412626772
rs1314034170
492 G>E No ClinGen
gnomAD
CA10374884
rs754617893
492 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412626779
rs1211802180
493 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 496 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412626822
rs1276460337
498 E>D No ClinGen
TOPMed
rs1439910357
CA412626859
504 I>L No ClinGen
TOPMed
rs1369467763
CA412626893
508 L>R No ClinGen
gnomAD
rs781462348
CA10374887
511 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs748517593
CA10374888
514 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 516 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10374889
rs756510078
517 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1175882499
CA412626959
518 C>S No ClinGen
TOPMed
rs1454358876
CA412626967
519 L>P No ClinGen
gnomAD
CA10374891
rs748880674
522 H>Y No ClinGen
ExAC
gnomAD
CA412626994
rs1308405971
523 P>R No ClinGen
TOPMed
gnomAD
rs1431312373
CA412626991
523 P>S No ClinGen
gnomAD
TCGA novel 527 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1235069743
CA412627034
530 C>S No ClinGen
gnomAD
CA328071175
rs764872814
531 S>N No ClinGen
1000Genomes
CA10374894
rs752945235
533 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA412627069
rs1458665191
535 H>Y No ClinGen
TOPMed
TCGA novel 536 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10374896
rs775249498
538 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA10374895
rs772014311
538 K>R No ClinGen
ExAC
TOPMed
CA412627112
rs1451417966
541 T>A No ClinGen
gnomAD
TCGA novel 543 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412627134
rs1429515468
544 A>V No ClinGen
gnomAD
rs1219956197
CA412627144
546 A>P No ClinGen
gnomAD
rs1280438576
CA412627158
548 T>I No ClinGen
TOPMed
CA10374898
rs763821681
548 T>S No ClinGen
ExAC
gnomAD
rs181130142
CA10374899
554 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA10374900
rs763158183
557 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1167053977
CA412627218
557 I>T No ClinGen
gnomAD
rs1168146860
CA412627252
562 W>R No ClinGen
gnomAD
CA412627265
rs1448905243
563 E>G No ClinGen
TOPMed
rs1403423572
CA412627273
564 R>L No ClinGen
TOPMed
gnomAD
rs1403423572
CA412627271
564 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 572 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1453623269
CA412627366
577 Q>E No ClinGen
TOPMed
CA412627398
rs1408623996
581 W>* No ClinGen
TOPMed
rs751640381
CA10374902
582 F>V No ClinGen
ExAC
rs1319899618
CA412627425
585 R>H No ClinGen
gnomAD
CA10374904
rs768103245
587 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1271024801
CA412627442
588 T>A No ClinGen
gnomAD
rs780658256
CA10374905
588 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA10374908
rs749003242
591 G>D No ClinGen
ExAC
gnomAD
CA412627461
rs1569202769
591 G>S No ClinGen
Ensembl
CA10374909
rs372187026
592 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs372187026
CA412627469
592 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA10374910
rs778326298
598 S>N No ClinGen
ExAC
rs1182492891
CA412627566
605 D>E No ClinGen
TOPMed
rs771433281
CA10374912
606 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA412627586
rs1193399951
608 S>L No ClinGen
TOPMed
gnomAD
CA412627587
rs1193399951
608 S>W No ClinGen
TOPMed
gnomAD
CA412627592
rs1236500180
609 D>G No ClinGen
gnomAD
rs903803033
CA328071176
609 D>N No ClinGen
TOPMed
gnomAD
rs1471631930
CA412627602
610 E>D No ClinGen
gnomAD
CA10374913
rs780052340
612 S>P No ClinGen
ExAC
gnomAD
TCGA novel 613 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412627628
rs1284770011
614 T>I No ClinGen
TOPMed
rs768507589
CA10374915
616 E>G No ClinGen
ExAC
gnomAD
rs868500463
CA328071177
620 E>K No ClinGen
Ensembl
rs776397820
CA10374916
622 V>I No ClinGen
ExAC
gnomAD
rs1314429748
CA412627686
623 Q>R No ClinGen
TOPMed
TCGA novel 624 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412627698
rs1319121489
625 R>* No ClinGen
TOPMed
gnomAD
CA412627699
rs1319121489
625 R>G No ClinGen
TOPMed
gnomAD
CA412627700
rs377420810
625 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA328071179
rs377420810
625 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10374917
rs377420810
625 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10374918
rs771157842
626 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1346144821
CA412627711
627 Q>R No ClinGen
TOPMed
CA328071180
rs901676216
629 M>L No ClinGen
TOPMed
gnomAD
TCGA novel 631 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with P0C7V8

No regional properties for P0C7V8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P0C7V8

Functions

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

2 GO annotations of cellular component

Name Definition
Cul4-RING E3 ubiquitin ligase complex A ubiquitin ligase complex in which a cullin from the Cul4 family and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A6NGE4 DCAF8L1 DDB1- and CUL4-associated factor 8-like protein 1 Homo sapiens (Human) PR
Q58WW2 DCAF6 DDB1- and CUL4-associated factor 6 Homo sapiens (Human) PR
Q5TAQ9 DCAF8 DDB1- and CUL4-associated factor 8 Homo sapiens (Human) PR
Q9DC22 Dcaf6 DDB1- and CUL4-associated factor 6 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSHQEGSTDG LPDLGTESLF SSPEEQSGAV AATEASSDID IATSELSVTV TGDGSDSRDG
70 80 90 100 110 120
GFPNDASTEN RSSDQESASE DIELESLEDF EHFLMSGESL FHYPLVGEEE TEREEEDEEI
130 140 150 160 170 180
QEEGGEEEEE EEEEEEEEEE EEEEEEEQPR AGPQGSGGNH EQYSLEEDQA LEEWVSSETS
190 200 210 220 230 240
ALPRPRWQVV TALHQRQLGS RPRFVYEACG ARAFVQRFRL QYRLADHVGC VNTVHFNQRG
250 260 270 280 290 300
TRLASSGDDL KVIVWDWVRQ RPVLNFESGH TNNVFQAKFL PNCGDSTLAM CARDGQVRVA
310 320 330 340 350 360
ELINASYFNN TKCVAQHRGP AHKLALEPDS PYKFLTSGED AVVFTIDLRQ DRPASKVVVT
370 380 390 400 410 420
RENDKKVGLY TITVNPANTY QFAVGGQDQF VRIYDQRKID KKENNGVLKK FTPHHLVNCD
430 440 450 460 470 480
FPTNITCVVY SHDGTELLAS YNDDDIYLFN SSHSDGAQYS KRFKGHRNNT TVKGVNFYGP
490 500 510 520 530 540
RSEFVVSGSD CGHIFFWEKS SCQIIQFLKG SREGTINCLE PHPYLPVLAC SGLDHDVKIW
550 560 570 580 590 600
TPTAKAATEL TGLKKVIKKN KWERDEDSLH HGSLFDQYML WFLLRHVTQR GRHQDWRSGE
610 620 630
AEFPDEESDE SSSTSETSEE EVQDRVQCMP S