Q8WTV1
Gene name |
THAP3 |
Protein name |
THAP domain-containing protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90326 |
EC number |
|
Protein Class |
|
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 |
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 |