Q969T9
PR
Gene name |
WBP2 |
Protein name |
WW domain-binding protein 2 |
Names |
WBP-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23558 |
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 Q969T9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q969T9-F1 | Predicted | AlphaFoldDB |
250 variants for Q969T9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8773911 RCV002546270 rs773715692 RCV001328673 |
156 | P>A | Inborn genetic diseases Hearing loss, autosomal recessive 107 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8773906 VAR_079500 RCV000499621 rs202022024 |
160 | A>T | Hearing loss, autosomal recessive 107 DFNB107 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000503796 VAR_079501 rs1555604710 CA401124346 |
163 | M>L | Hearing loss, autosomal recessive 107 DFNB107; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA401122402 VAR_079502 RCV000501384 rs1555604549 |
224 | A>V | Hearing loss, autosomal recessive 107 DFNB107; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA8774088 rs774001838 |
2 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1254034706 CA401131051 |
3 | L>F | No |
ClinGen gnomAD |
|
|
rs1599427492 CA401131036 |
4 | N>K | No |
ClinGen Ensembl |
|
|
CA401131041 rs1215873812 |
4 | N>S | No |
ClinGen gnomAD |
|
|
COSM165542 CA401131021 CA8774087 rs770560411 |
5 | K>N | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1450462528 CA401131025 |
5 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1205846653 CA401131008 |
6 | N>T | No |
ClinGen gnomAD |
|
|
rs199895332 CA8774086 |
7 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283924277 CA401130982 |
8 | S>L | No |
ClinGen gnomAD |
|
|
rs1304483601 CA401130989 |
8 | S>P | No |
ClinGen gnomAD |
|
|
rs1567828846 CA401130980 |
9 | E>* | No |
ClinGen Ensembl |
|
|
rs1305432376 CA401130940 |
12 | G>E | No |
ClinGen gnomAD |
|
|
rs1330497315 CA401130903 |
15 | V>G | No |
ClinGen gnomAD |
|
|
rs368751873 CA8774083 |
15 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1318851412 CA401130894 |
16 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781746618 CA294094752 |
17 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs781746618 CA8774082 |
17 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA294094750 rs1031133218 |
18 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1599427408 CA401130849 |
20 | S>G | No |
ClinGen Ensembl |
|
|
CA8774044 rs761303128 |
23 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs374977249 CA401129143 |
24 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374977249 CA8774043 |
24 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8774041 rs745899193 |
25 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745899193 CA401129125 |
25 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8774038 rs749493232 |
28 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1216816120 CA401129078 |
29 | E>V | No |
ClinGen TOPMed |
|
|
rs370266562 CA8774037 |
30 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754730037 CA8774036 |
31 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1044768901 TCGA novel CA401129019 |
32 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA8774035 rs147416469 |
33 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401128950 rs1398583436 |
35 | M>I | No |
ClinGen gnomAD |
|
|
rs11549520 CA8774034 |
35 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs757852655 CA8774033 |
36 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA401128908 rs1352117700 |
38 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs778273023 CA8774031 |
43 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401128807 rs1159448446 |
44 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8774030 rs149300980 |
46 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753508443 CA8774029 |
49 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401128718 rs1438011163 |
50 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8774026 rs753153881 |
51 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489463775 CA401128650 |
52 | L>F | No |
ClinGen gnomAD |
|
|
rs767997021 CA8774025 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759951858 CA8774024 |
53 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA401128600 rs1296487244 |
54 | P>A | No |
ClinGen TOPMed |
|
|
rs770968991 CA8774023 |
54 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770968991 CA8774022 |
54 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8774021 rs763196934 |
55 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1680093 rs377767075 CA8774020 |
56 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA401127594 rs1174526898 |
57 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs751974141 CA401127545 |
59 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8774006 rs751974141 |
59 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401127516 rs1375731422 |
61 | S>T | No |
ClinGen gnomAD |
|
|
rs1306334218 CA401127498 |
62 | K>* | No |
ClinGen TOPMed |
|
|
rs1429115968 CA401127404 |
65 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs766470111 CA8774005 |
65 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs992306007 CA294093584 |
67 | M>I | No |
ClinGen TOPMed |
|
|
rs1190936402 CA401127382 |
67 | M>L | No |
ClinGen gnomAD |
|
|
CA8774002 rs770069374 |
70 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482038745 CA401127278 |
72 | M>L | No |
ClinGen gnomAD |
|
|
rs775404592 CA8774000 |
77 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8773999 rs771731567 |
80 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745847911 CA8773998 |
82 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771265316 CA8773996 |
86 | V>I | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771265316 CA8773997 |
86 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA294093578 rs1006247541 |
87 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8773994 rs777414800 |
92 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM984500 CA294093574 rs760988068 |
98 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs755252817 CA8773990 |
99 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8773989 rs752075609 |
100 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs563500410 COSM984499 CA8773988 |
100 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8773961 rs774342527 |
103 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 104 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294093380 rs985104736 |
106 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8773960 rs191305526 |
106 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401126454 rs1331646680 |
110 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1331646680 CA401126452 |
110 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1256060759 CA401126461 |
110 | Y>H | No |
ClinGen TOPMed |
|
|
rs1325414960 CA401126444 |
111 | K>Q | No |
ClinGen gnomAD |
|
|
rs773239891 CA8773958 |
113 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1386136694 CA401126414 |
115 | T>M | No |
ClinGen TOPMed |
|
|
rs376568072 CA8773955 |
116 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768252815 CA8773954 CA401126398 |
117 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA294093368 rs992635650 |
119 | A>T | No |
ClinGen gnomAD |
|
|
CA401126343 rs1599421788 |
120 | I>L | No |
ClinGen Ensembl |
|
|
CA401126336 rs1450322049 |
120 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779229899 CA8773948 |
123 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs138426320 CA8773946 |
125 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138426320 CA8773945 |
125 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8773947 rs757358462 |
125 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA401126251 rs1271331039 |
126 | M>L | No |
ClinGen TOPMed |
|
|
rs756450754 CA8773944 |
127 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA401126216 rs1434234731 |
128 | Q>E | No |
ClinGen gnomAD |
|
|
rs752930396 CA8773943 |
129 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1001631501 CA294093362 |
131 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA294093361 rs11549522 |
132 | Q>K | No |
ClinGen Ensembl |
|
|
rs1056277129 CA294092847 |
134 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1056277129 CA401124980 |
134 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8773921 rs150542264 |
135 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294092845 rs866107189 |
136 | G>C | No |
ClinGen Ensembl |
|
|
CA8773920 rs182989479 |
136 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868631636 CA294092844 |
137 | E>* | No |
ClinGen Ensembl |
|
|
rs35490322 CA294092842 |
137 | E>G | No |
ClinGen Ensembl |
|
|
rs572594636 CA8773918 |
138 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367593341 CA8773917 |
139 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401124816 rs1567825793 |
140 | S>N | No |
ClinGen Ensembl |
|
|
rs1398736952 CA401124807 |
141 | G>R | No |
ClinGen gnomAD |
|
|
rs1169881086 CA401124774 |
142 | A>D | No |
ClinGen gnomAD |
|
|
CA401124746 rs1365169877 |
143 | Y>C | No |
ClinGen TOPMed |
|
|
rs771775883 CA8773916 |
145 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1406007498 CA401124708 |
145 | Y>C | No |
ClinGen gnomAD |
|
|
CA294092840 rs565473912 |
145 | Y>N | No |
ClinGen 1000Genomes |
|
|
CA294092839 rs926580225 |
146 | S>F | No |
ClinGen TOPMed |
|
|
rs759209579 CA8773915 |
147 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1301022588 CA401124660 |
148 | M>V | No |
ClinGen TOPMed |
|
|
CA401124640 rs1444168162 |
149 | P>S | No |
ClinGen gnomAD |
|
|
rs1238575684 CA401124626 |
150 | S>C | No |
ClinGen gnomAD |
|
|
rs774625824 CA401124605 |
150 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238575684 CA401124631 |
150 | S>R | No |
ClinGen gnomAD |
|
|
CA401124617 rs1180262550 |
150 | S>T | No |
ClinGen gnomAD |
|
|
CA294092838 rs146200069 |
151 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8773913 rs749784833 |
152 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8773912 rs749784833 |
152 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401124551 rs1287074807 |
153 | Y>C | No |
ClinGen gnomAD |
|
|
rs931120421 CA294092836 |
155 | Y>C | No |
ClinGen gnomAD |
|
|
rs931120421 CA401124511 |
155 | Y>F | No |
ClinGen gnomAD |
|
|
CA401124492 rs773715692 |
156 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770002382 CA8773910 |
157 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770002382 CA294092835 |
157 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972447387 CA294092832 |
161 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401124353 rs1381147900 |
162 | G>E | No |
ClinGen gnomAD |
|
|
CA401124364 rs1424326478 |
162 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401124298 rs1160276061 |
164 | Y>F | No |
ClinGen gnomAD |
|
|
rs1160276061 CA401124307 |
164 | Y>S | No |
ClinGen gnomAD |
|
|
CA401124257 rs1437565981 |
166 | C>Y | No |
ClinGen gnomAD |
|
|
CA401124234 rs1384883228 |
167 | P>S | No |
ClinGen TOPMed |
|
|
CA8773905 rs778602204 |
168 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401124210 rs1191729901 |
168 | P>S | No |
ClinGen gnomAD |
|
|
CA401124175 rs1244486777 |
169 | G>D | No |
ClinGen gnomAD |
|
|
CA8773904 rs200427088 |
170 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401124122 rs1237449021 |
171 | P>L | No |
ClinGen gnomAD |
|
|
rs763952469 CA8773902 |
171 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763952469 CA8773903 |
171 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1458212800 CA8773900 |
172 | Y>C | No |
ClinGen TOPMed |
|
|
CA8773899 rs756037372 |
173 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8773898 rs373335592 |
173 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766989533 CA8773897 |
174 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294092820 rs766989533 |
174 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301446716 CA401124069 |
175 | P>L | No |
ClinGen gnomAD |
|
|
CA401124059 rs1381604527 |
176 | P>Q | No |
ClinGen TOPMed |
|
|
rs1361466525 CA401124064 |
176 | P>S | No |
ClinGen gnomAD |
|
|
rs766669191 CA8773894 |
178 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8773861 rs754871607 |
180 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA8773860 rs563181089 |
181 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs960424544 CA294092724 |
182 | G>A | No |
ClinGen TOPMed |
|
|
CA294092723 rs932292291 |
183 | P>H | No |
ClinGen Ensembl |
|
|
rs1567825526 CA401123577 |
184 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 185 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573593933 CA8773858 CA294092717 |
185 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350123168 CA401123548 |
185 | M>R | No |
ClinGen TOPMed |
|
|
rs553723291 CA8773856 |
186 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750058004 CA8773857 |
186 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750058004 CA401123528 |
186 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754399931 CA8773854 |
188 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489841383 CA401123404 |
189 | A>D | No |
ClinGen TOPMed |
|
|
CA401123418 rs1241696430 |
189 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1241696430 CA401123420 |
189 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761073615 CA8773852 |
190 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1027531143 CA294092706 |
190 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8773851 rs539979648 |
191 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401123355 rs1194540247 |
191 | G>R | No |
ClinGen gnomAD |
|
|
rs748726249 CA294092703 |
192 | Y>C | No |
ClinGen Ensembl |
|
|
rs759782741 CA8773849 |
193 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774504558 CA8773848 |
194 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401123206 rs1314199152 |
195 | P>L | No |
ClinGen gnomAD |
|
|
rs1381811954 CA401123214 |
195 | P>S | No |
ClinGen TOPMed |
|
|
rs769583542 CA8773847 |
196 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs897783880 CA294092698 |
196 | P>S | No |
ClinGen TOPMed |
|
|
rs748006851 CA8773845 |
197 | P>S | No |
ClinGen ExAC |
|
|
CA294092690 rs1036589187 |
198 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8773844 rs577649493 |
198 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577649493 CA8773843 |
198 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757934287 CA8773840 |
201 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035758981 CA294092680 |
203 | P>H | No |
ClinGen TOPMed |
|
|
CA8773839 rs145891442 |
203 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401122979 rs1440724159 |
204 | M>I | No |
ClinGen gnomAD |
|
|
CA8773838 rs778639996 |
204 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8773837 rs756964007 |
205 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1599420451 CA401122965 |
205 | E>D | No |
ClinGen Ensembl |
|
|
COSM1232507 rs1180298209 CA401122923 |
207 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs761281499 CA8773834 |
210 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1211713303 CA401122880 |
210 | G>C | No |
ClinGen gnomAD |
|
|
rs1211713303 CA401122885 |
210 | G>S | No |
ClinGen gnomAD |
|
|
rs371854572 CA294092670 |
212 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375018959 CA8773831 |
212 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238255744 CA401122809 |
213 | V>D | No |
ClinGen gnomAD |
|
|
rs774412918 CA8773830 |
214 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8773828 rs763143807 |
215 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776530774 CA401122756 |
216 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs776530774 CA8773827 |
216 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1421074645 CA401122749 |
217 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401122719 rs1382983540 |
218 | A>S | No |
ClinGen TOPMed |
|
| rs370952739 | 219 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752479473 CA8773788 |
220 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387278909 CA401122440 |
222 | K>N | No |
ClinGen gnomAD |
|
|
rs1161496412 CA401122408 |
223 | A>V | No |
ClinGen gnomAD |
|
|
rs549580393 CA8773786 |
224 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8773785 rs774381170 |
225 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1445273529 CA401122387 |
226 | A>V | No |
ClinGen TOPMed |
|
|
CA8773783 rs367581512 |
228 | A>T | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1381990192 CA401122374 |
229 | S>G | No |
ClinGen TOPMed |
|
|
rs747805731 CA8773780 |
230 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8773781 rs747805731 |
230 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8773779 rs781567965 |
231 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781567965 CA401122338 |
231 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1262521791 CA401122329 |
232 | Y>D | No |
ClinGen TOPMed |
|
|
CA401122307 rs1599419718 |
233 | N>T | No |
ClinGen Ensembl |
|
|
CA401122250 rs1212590662 |
237 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442392226 CA401122211 |
239 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8773776 rs199897877 |
240 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758937271 CA8773775 |
241 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA294092417 rs758937271 |
241 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
CA8773772 rs757457670 |
242 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8773773 rs200534175 |
242 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401122150 rs1423941362 |
243 | P>S | No |
ClinGen TOPMed |
|
| rs754073122 | 244 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453540233 CA401122135 |
244 | T>M | No |
ClinGen TOPMed |
|
|
rs1359353040 CA401122144 |
244 | T>P | No |
ClinGen TOPMed |
|
|
CA8773745 rs764671533 |
246 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA401122052 rs1184355755 |
247 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1263381917 CA401122059 |
247 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8773742 rs763791362 |
248 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8773740 rs775754654 |
249 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261413186 CA401121956 |
252 | Y>C | No |
ClinGen gnomAD |
|
|
rs772437473 CA8773739 |
254 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038906471 CA294092343 |
254 | P>S | No |
ClinGen Ensembl |
|
|
CA294092337 rs867193634 |
255 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA294092339 rs867193634 |
255 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 259 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401121800 CA401121799 rs1361013806 |
261 | Q>H | No |
ClinGen gnomAD |
|
|
CA294092333 rs868273900 |
261 | Q>K | No |
ClinGen Ensembl |
1 associated diseases with Q969T9
[MIM: 617639]: Deafness, autosomal recessive, 107 (DFNB107)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:26881968}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:26881968}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q969T9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GRAM domain | 38 - 130 | IPR004182 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| nuclear estrogen receptor binding | Binding to a nuclear estrogen receptor. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to estrogen stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics. |
| epigenetic maintenance of chromatin in transcription-competent conformation | An epigenetic process that capacitates gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. |
| establishment of protein localization to chromatin | The directed movement of a protein to a part of a chromosome that is organized into chromatin. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of histone H3-K14 acetylation | Any process that activates or increases the frequency, rate or extent of the addition of an acetyl group to histone H3 at position 14 of the histone. |
| positive regulation of intracellular estrogen receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of the activity of an intracellular estrogen receptor signaling pathway. |
| 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. |
| progesterone receptor signaling pathway | The series of molecular signals initiated by progesterone binding to its receptor in the cytoplasm. |
| response to estrogen | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics. |
| response to progesterone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a progesterone stimulus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALNKNHSEG | GGVIVNNTES | ILMSYDHVEL | TFNDMKNVPE | AFKGTKKGTV | YLTPYRVIFL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SKGKDAMQSF | MMPFYLMKDC | EIKQPVFGAN | YIKGTVKAEA | GGGWEGSASY | KLTFTAGGAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EFGQRMLQVA | SQASRGEVPS | GAYGYSYMPS | GAYVYPPPVA | NGMYPCPPGY | PYPPPPPEFY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGPPMMDGAM | GYVQPPPPPY | PGPMEPPVSG | PDVPSTPAAE | AKAAEAAASA | YYNPGNPHNV |
| 250 | 260 | ||||
| YMPTSQPPPP | PYYPPEDKKT | Q |