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 | |||
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 |