Q9NSB8
PR
Gene name |
HOMER2 |
Protein name |
Homer protein homolog 2 |
Names |
Homer-2, Cupidin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9455 |
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 Q9NSB8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NSB8-F1 | Predicted | AlphaFoldDB |
304 variants for Q9NSB8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA393415371 RCV001336747 rs1308445013 |
44 | S>G | Autosomal dominant nonsyndromic hearing loss 68 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000826310 CA7702246 RCV002536081 rs201330165 |
61 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA248588 RCV000202595 VAR_075751 rs864309524 |
196 | R>P | Autosomal dominant nonsyndromic hearing loss 68 DFNA68 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs2051382999 RCV001327994 |
278 | P>missing | Autosomal dominant nonsyndromic hearing loss 68 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2051382723 RCV001181995 |
281 | M>missing | Autosomal dominant nonsyndromic hearing loss 68 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA393415861 rs1388357101 |
4 | Q>E | No |
ClinGen gnomAD |
|
|
rs879257794 CA274024615 |
5 | P>R | No |
ClinGen Ensembl |
|
|
rs1451142252 CA393415848 |
6 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393415838 rs1421579237 |
7 | F>S | No |
ClinGen gnomAD |
|
|
rs780146687 CA7702299 |
8 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7702298 rs756139537 |
9 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7702297 rs750943670 |
10 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393415822 rs560032927 |
10 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7702296 rs560032927 |
10 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757701596 CA7702295 COSM965802 |
11 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA393415808 rs1567036660 |
13 | V>I | No |
ClinGen Ensembl |
|
|
CA7702293 rs762737459 |
15 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702292 rs762737459 |
15 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702291 rs752360337 |
15 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs374856836 CA7702288 |
16 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764859232 CA7702290 |
16 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs770965446 CA7702287 |
17 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA393415774 rs1369033171 |
18 | P>R | No |
ClinGen TOPMed |
|
|
rs760516177 CA7702286 |
18 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA274024509 rs778498780 |
21 | K>E | No |
ClinGen Ensembl |
|
|
CA393415735 rs1380487369 |
23 | N>K | No |
ClinGen TOPMed |
|
|
CA7702283 rs370099182 |
25 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7702282 rs115093120 |
26 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393415665 rs1427645004 |
27 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1373067718 CA393415625 |
29 | K>M | No |
ClinGen gnomAD |
|
|
CA7702278 rs41310980 |
29 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs189123186 CA7702277 |
30 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393415583 rs868742880 |
31 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs868742880 CA274024460 |
31 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1430024299 CA393415574 |
32 | V>F | No |
ClinGen gnomAD |
|
|
rs544469522 CA7702274 |
34 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764914254 CA7702273 |
36 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1208667213 CA393415485 |
37 | F>Y | No |
ClinGen TOPMed |
|
|
rs759254280 CA7702272 |
38 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702271 rs753444538 |
39 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs199530235 CA274024417 |
41 | T>A | No |
ClinGen Ensembl |
|
|
rs199855553 CA274024405 |
43 | N>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7702270 rs369841127 |
45 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393415333 rs1353132330 |
46 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201320170 COSM965800 CA7702269 |
46 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369377922 CA393415275 |
49 | S>I | No |
ClinGen ESP gnomAD |
|
|
CA274024394 rs369377922 |
49 | S>N | No |
ClinGen ESP gnomAD |
|
|
rs1463519917 CA393415229 |
51 | D>Y | No |
ClinGen gnomAD |
|
|
rs575543713 CA7702264 |
52 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA274024347 CA7702265 rs774130600 |
52 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7702263 rs746059332 |
53 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs982231252 CA274024331 |
54 | K>Q | No |
ClinGen Ensembl |
|
|
rs1349561416 CA393326339 |
55 | V>L | No |
ClinGen gnomAD |
|
|
rs1446671598 CA393326329 |
56 | I>M | No |
ClinGen TOPMed |
|
|
CA273537865 rs1021708568 |
56 | I>V | No |
ClinGen TOPMed |
|
|
CA393326325 rs1567027848 |
57 | I>K | No |
ClinGen Ensembl |
|
|
CA7702244 rs771053430 |
63 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7702245 rs776671662 |
63 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3701023 CA7702242 rs773418627 |
64 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA273537839 rs773418627 |
64 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA273537829 rs368535685 |
65 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA393326273 rs1384274411 |
65 | M>T | No |
ClinGen TOPMed |
|
|
CA7702240 rs748641782 |
67 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1383017221 CA393326253 |
68 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1404499626 CA393326237 |
70 | T>M | No |
ClinGen TOPMed |
|
|
CA7702238 rs755258861 |
71 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA273537779 rs926318221 |
72 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA393326228 rs1192307126 |
72 | Q>R | No |
ClinGen gnomAD |
|
|
rs779506706 CA7702236 |
79 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs1253994828 CA393326135 |
82 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1253994828 CA393326133 |
82 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1349271350 CA393326118 |
84 | T>A | No |
ClinGen TOPMed |
|
|
CA393326101 rs1281618289 |
85 | V>A | No |
ClinGen gnomAD |
|
|
CA7702233 rs755787836 |
91 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs571002820 CA7702232 |
97 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702213 rs780714113 |
99 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA273527033 rs201026392 |
106 | V>A | No |
ClinGen 1000Genomes |
|
|
rs1422054196 CA393324021 |
107 | K>R | No |
ClinGen gnomAD |
|
|
CA393324009 rs1168806846 |
109 | A>T | No |
ClinGen gnomAD |
|
|
CA393324001 rs1407337917 |
110 | A>S | No |
ClinGen TOPMed |
|
|
rs1326983120 CA393323994 |
111 | K>R | No |
ClinGen gnomAD |
|
|
CA393323983 rs1185363446 |
112 | I>M | No |
ClinGen gnomAD |
|
|
rs1344785374 CA393323982 |
113 | A>T | No |
ClinGen TOPMed |
|
|
CA7702212 rs756711767 |
113 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393323977 rs1203698661 |
114 | K>E | No |
ClinGen gnomAD |
|
|
CA393323966 rs777501352 |
115 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702210 rs777501352 |
115 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275050750 CA393323957 |
116 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1275050750 CA393323958 |
116 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752489637 RCV000992155 COSM1209888 CA7702208 |
117 | T>M | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7702209 rs758347968 |
117 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA393323940 rs1381508010 |
119 | E>K | No |
ClinGen gnomAD |
|
|
CA7702206 rs76145073 |
120 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279077118 CA393323919 |
122 | E>Q | No |
ClinGen gnomAD |
|
|
rs1596309887 CA393323888 |
126 | N>S | No |
ClinGen Ensembl |
|
|
CA7702203 rs761924789 |
128 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA393323475 rs1322440126 |
131 | S>C | No |
ClinGen TOPMed |
|
|
rs964166293 CA273521277 |
133 | R>C | No |
ClinGen TOPMed |
|
|
rs376440736 CA7702168 |
133 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393323464 rs376440736 |
133 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393323454 rs1596306368 |
135 | T>P | No |
ClinGen Ensembl |
|
|
rs372021638 CA7702167 |
135 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428293060 CA393323445 |
136 | P>L | No |
ClinGen gnomAD |
|
|
rs751767033 CA7702164 |
137 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1433583785 CA393323431 |
139 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 140 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7702163 rs764105618 |
143 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702162 rs758448863 |
143 | S>N | No |
ClinGen ExAC |
|
|
rs753153503 CA7702161 |
144 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7702160 rs765804519 |
145 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393323387 rs1487002849 |
146 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs150399702 CA7702157 |
147 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7702153 rs747626361 |
149 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702154 rs771494593 COSM965796 |
149 | D>N | Variant assessed as Somatic; 4.641e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA393323367 rs771494593 |
149 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA393323359 rs1293929003 |
150 | E>G | No |
ClinGen gnomAD |
|
|
rs773729621 CA7702152 |
152 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7702151 rs564002461 |
152 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7702149 rs780027349 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747212398 CA7702147 |
156 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA393323324 rs1469012759 COSM1254333 |
156 | G>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA393323320 rs747212398 |
156 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs777989205 CA7702146 |
157 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA393323317 rs1443557697 |
157 | P>S | No |
ClinGen gnomAD |
|
|
CA7702144 rs752876145 |
159 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273521089 rs11541402 |
159 | N>K | No |
ClinGen Ensembl |
|
|
rs765274807 CA7702143 |
160 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1055389449 CA273521080 |
161 | H>P | No |
ClinGen Ensembl |
|
|
CA7702141 rs1051936 |
161 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs987736283 CA273521072 |
167 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1480619842 CA393323201 |
170 | K>N | No |
ClinGen gnomAD |
|
|
CA7702139 rs761040702 |
171 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA393323188 rs1207014414 |
171 | I>T | No |
ClinGen gnomAD |
|
|
CA7702140 rs761040702 |
171 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7702138 rs530572015 |
173 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7702136 rs761349827 |
174 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA7702137 rs767266683 |
174 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393323146 rs1314314446 |
175 | Q>K | No |
ClinGen gnomAD |
|
|
rs928396831 CA273521053 |
176 | S>N | No |
ClinGen TOPMed |
|
|
rs756684841 CA7702105 |
177 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752753180 CA7702104 |
177 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273516414 rs28550214 |
178 | A>T | No |
ClinGen Ensembl |
|
|
rs1360490826 CA393322500 |
179 | N>D | No |
ClinGen TOPMed |
|
|
rs781638307 CA393322486 |
179 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393322471 rs1210120556 |
180 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757508788 CA7702101 |
182 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555418883 CA393322426 |
183 | W>R | No |
ClinGen Ensembl |
|
|
CA7702097 rs752308964 COSM434428 |
190 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752308964 CA7702096 |
190 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7702094 rs369968997 |
191 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7702095 rs764617126 COSM965792 |
191 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1382854234 CA393322321 |
192 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA393322314 rs776379961 |
193 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702093 rs776379961 |
193 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393322296 rs1394939359 |
194 | N>S | No |
ClinGen gnomAD |
|
|
CA393322271 rs864309524 |
196 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs183617984 CA7702091 |
196 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7702090 rs772986081 |
198 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769045337 CA7702089 |
199 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1446113710 CA393322191 |
202 | Q>* | No |
ClinGen gnomAD |
|
|
rs749489505 CA7702088 |
202 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1384858038 CA393322149 |
203 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369621004 CA7702087 |
204 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769712794 CA7702086 |
205 | A>P | No |
ClinGen ExAC |
|
|
rs746397962 CA7702085 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393322108 rs1217473084 |
206 | A>T | No |
ClinGen gnomAD |
|
|
rs1275275725 CA393322077 |
207 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1275275725 CA393322079 |
207 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765272397 CA273516244 |
211 | W>R | No |
ClinGen Ensembl |
|
|
CA7702082 rs377132486 |
212 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000596040 rs200964994 CA7702080 |
214 | Q>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1596303059 CA393321901 |
215 | F>V | No |
ClinGen Ensembl |
|
|
CA393321891 rs1450934084 |
216 | S>A | No |
ClinGen TOPMed |
|
|
CA393321883 rs1350265319 |
217 | I>V | No |
ClinGen gnomAD |
|
|
CA7702079 rs752362060 |
218 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764829390 CA7702078 |
219 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000606562 VAR_053366 rs7175005 RCV000957332 CA7702077 |
219 | R>H | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753821442 CA7702076 |
220 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA393321846 rs1228489018 |
220 | D>N | No |
ClinGen TOPMed |
|
|
CA7702075 rs201813178 |
222 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7702074 rs760594313 |
223 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7702072 rs199601429 |
224 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192670592 CA7702073 |
224 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000596644 rs199835958 CA7702071 |
226 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA273516125 rs1028360174 |
226 | R>H | No |
ClinGen gnomAD |
|
|
CA393321306 rs1028360174 |
226 | R>L | No |
ClinGen gnomAD |
|
|
rs775515730 CA393321274 |
228 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775515730 CA7702070 |
228 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890670085 CA273513169 |
231 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA393320522 rs1197361696 |
234 | E>K | No |
ClinGen TOPMed |
|
|
CA393320486 rs1239961151 |
235 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1468259306 CA393320477 |
236 | C>Y | No |
ClinGen TOPMed |
|
|
CA7702045 rs552168910 |
237 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255059834 CA393320442 |
238 | E>G | No |
ClinGen TOPMed |
|
|
rs1467870834 CA393320432 |
239 | I>F | No |
ClinGen gnomAD |
|
|
rs922850698 CA273513161 |
239 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7702044 rs17158223 VAR_053367 |
239 | I>S | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
| TCGA novel | 241 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7702043 rs768242740 |
243 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs779562123 CA7702040 |
244 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7702042 rs372943630 |
244 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7702038 rs369058288 |
245 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757202917 CA7702036 |
246 | N>K | No |
ClinGen ExAC |
|
|
CA7702037 rs781170498 |
246 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532034212 CA7702034 |
247 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1366006442 CA393320289 |
248 | Q>* | No |
ClinGen gnomAD |
|
|
rs1366006442 CA393320291 |
248 | Q>K | No |
ClinGen gnomAD |
|
|
CA393320280 rs1291428391 |
249 | L>P | No |
ClinGen gnomAD |
|
|
CA7702033 rs563962950 |
253 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754047402 CA7702031 |
254 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7702029 rs766584221 |
254 | E>V | No |
ClinGen ExAC |
|
|
rs773424463 CA7702027 |
258 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7702026 rs772765612 |
261 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762360591 CA7702025 |
261 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596301117 CA393320112 |
262 | E>G | No |
ClinGen Ensembl |
|
|
rs1488901708 CA393320116 |
262 | E>Q | No |
ClinGen gnomAD |
|
|
rs1327004948 CA393320108 |
263 | K>Q | No |
ClinGen TOPMed |
|
|
CA393320071 rs1307296657 |
266 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs79448007 RCV000616651 CA7702003 RCV000971947 |
266 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1468103617 CA393320076 |
266 | E>Q | No |
ClinGen gnomAD |
|
|
rs1234114570 CA393320058 |
268 | K>N | No |
ClinGen TOPMed |
|
|
CA393320060 rs1596300226 |
268 | K>R | No |
ClinGen Ensembl |
|
|
rs772542303 CA273511954 |
269 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393320053 rs772542303 |
269 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1257011598 CA393320056 |
269 | D>N | No |
ClinGen gnomAD |
|
|
CA7702001 rs769482387 |
271 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393320027 rs1596300189 |
273 | Q>R | No |
ClinGen Ensembl |
|
|
CA393320021 rs1314887206 |
274 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 274 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7702000 rs373795200 |
276 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7701999 rs776146246 |
277 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1399360310 CA393319990 |
278 | P>L | No |
ClinGen gnomAD |
|
|
CA393319993 rs1186308099 |
278 | P>S | No |
ClinGen TOPMed |
|
|
rs746938279 CA7701997 |
280 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7701996 rs565178535 |
281 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7701995 rs758267676 |
281 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1474711662 CA393319967 |
282 | S>A | No |
ClinGen TOPMed |
|
|
CA393319960 rs1422134890 |
283 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756570142 CA273511875 |
283 | E>Q | No |
ClinGen Ensembl |
|
|
rs1309720795 CA393319943 |
285 | E>D | No |
ClinGen gnomAD |
|
|
CA7701993 rs778830215 |
285 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393319938 rs1256603600 |
286 | Y>C | No |
ClinGen gnomAD |
|
|
rs1480507502 CA393319940 |
286 | Y>H | No |
ClinGen gnomAD |
|
|
rs1196340431 CA393319929 |
287 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA393319932 rs1596300087 |
287 | V>L | No |
ClinGen Ensembl |
|
|
CA393319907 CA7701992 rs78286670 |
290 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449463504 CA393319328 |
293 | A>S | No |
ClinGen gnomAD |
|
|
CA7701968 rs751707808 |
293 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758932679 CA7701966 |
294 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA273510292 rs1043199731 CA393319299 |
297 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1351093730 CA393319295 |
298 | N>I | No |
ClinGen gnomAD |
|
|
rs1274080313 CA393319270 |
301 | L>R | No |
ClinGen gnomAD |
|
|
CA7701963 rs373997485 |
303 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7701964 rs371234312 |
303 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7701962 rs529437974 |
306 | R>C | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs369672907 CA7701961 |
306 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529437974 CA393319241 |
306 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7701959 rs772819275 |
311 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA393319199 rs1402143370 |
312 | I>T | No |
ClinGen gnomAD |
|
|
rs1171140843 CA393319196 |
313 | E>K | No |
ClinGen gnomAD |
|
|
rs1479214150 CA393319179 |
315 | S>G | No |
ClinGen gnomAD |
|
|
rs1479214150 CA393319180 |
315 | S>R | No |
ClinGen gnomAD |
|
|
CA273510199 rs938587259 |
315 | S>R | No |
ClinGen TOPMed |
|
|
CA393319171 rs1384863543 |
316 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7701958 rs771671121 |
317 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7701957 rs761865072 |
318 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376015771 CA393319156 |
318 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376015771 CA7701956 |
318 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7701955 rs190714784 |
320 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7701953 rs779689145 |
322 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7701952 rs771223261 |
324 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA273510142 rs771223261 |
324 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs984471781 CA273510115 |
326 | L>F | No |
ClinGen TOPMed |
|
|
rs1277869468 CA393319072 |
328 | S>N | No |
ClinGen gnomAD |
|
|
CA273510113 rs1025789166 |
330 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 333 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM434422 CA7701950 rs372825300 |
334 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393318976 rs372825300 |
334 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779466414 CA7701947 |
337 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779466414 CA7701948 |
337 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393318870 rs1280116567 |
339 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1400719513 CA393318821 |
341 | H>R | No |
ClinGen gnomAD |
|
|
CA393318773 rs1340320269 |
342 | D>E | No |
ClinGen gnomAD |
|
|
rs754280716 CA7701945 |
344 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746045063 CA7701944 |
344 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746045063 CA393318726 |
344 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393318719 rs1403441552 |
345 | R>* | No |
ClinGen gnomAD |
|
|
CA7701943 rs199827961 |
345 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7701942 rs368481727 |
346 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393318677 rs1421052305 |
347 | L>F | No |
ClinGen gnomAD |
|
|
rs767149658 CA7701941 |
349 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1445340025 CA393318604 |
350 | L>Q | No |
ClinGen TOPMed |
|
|
CA7701940 rs761480920 |
350 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7701936 rs199617276 |
353 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393318536 rs1243577936 |
353 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7701935 rs778678637 |
355 | N>G | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9NSB8
[MIM: 616707]: Deafness, autosomal dominant, 68 (DFNA68)
A form of non-syndromic sensorineural hearing loss with postlingual onset. 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:25816005}. 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 with postlingual onset. 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:25816005}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for Q9NSB8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 76 - 150 | IPR000504-1 |
| domain | RNA recognition motif domain | 167 - 240 | IPR000504-2 |
| domain | RNA recognition motif domain | 335 - 409 | IPR000504-3 |
| domain | PTBP1-like, RNA recognition motif 2 | 165 - 243 | IPR021790 |
| domain | hnRPLL, RNA recognition motif 3 | 336 - 409 | IPR034983 |
| domain | hnRPLL, RNA recognition motif 1 | 73 - 156 | IPR034985 |
| domain | hnRPLL, RNA recognition motif 2 | 165 - 260 | IPR034986 |
| domain | hnRPLL, RNA recognition motif 4 | 452 - 536 | IPR034987 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
| 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. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| intracellular organelle | Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| stereocilium tip | A distinct compartment at the tip of a stereocilium, distal to the site of attachment to the apical cell surface. It consists of a dense matrix bridging the barbed ends of the stereocilium actin filaments with the overlying plasma membrane, is dynamic compared to the shaft, and is required for stereocilium elongation. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| G protein-coupled glutamate receptor binding | Binding to a G protein-coupled glutamate receptor (a metabotropic glutamate receptor). |
| synaptic receptor adaptor activity | The binding activity of a molecule that provides a physical support bridging a synaptic signaling receptor and a downstream signaling molecule. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| behavioral response to cocaine | Any process that results in a change in the behavior of an organism as a result of a cocaine stimulus. |
| calcium-mediated signaling using intracellular calcium source | The series of molecular signals in which a cell uses calcium ions released from an intracellular store to convert a signal into a response. |
| chemical homeostasis within a tissue | Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue. |
| G protein-coupled glutamate receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by glutamate binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| negative regulation of calcineurin-NFAT signaling cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of the calcineurin-NFAT signaling cascade. |
| negative regulation of interleukin-2 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-2 production. |
| regulation of G protein-coupled receptor signaling pathway | Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. |
| regulation of store-operated calcium entry | Any process that modulates the frequency, rate or extent of store-operated calcium entry. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEQPIFTTR | AHVFQIDPNT | KKNWMPASKQ | AVTVSYFYDV | TRNSYRIISV | DGAKVIINST |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ITPNMTFTKT | SQKFGQWADS | RANTVFGLGF | SSEQQLTKFA | EKFQEVKEAA | KIAKDKTQEK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IETSSNHSQE | SGRETPSSTQ | ASSVNGTDDE | KASHAGPANT | HLKSENDKLK | IALTQSAANV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKWEIELQTL | RESNARLTTA | LQESAASVEQ | WKRQFSICRD | ENDRLRNKID | ELEEQCSEIN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| REKEKNTQLK | RRIEELEAEL | REKETELKDL | RKQSEIIPQL | MSECEYVSEK | LEAAERDNQN |
| 310 | 320 | 330 | 340 | 350 | |
| LEDKVRSLKT | DIEESKYRQR | HLKVELKSFL | EVLDGKIDDL | HDFRRGLSKL | GTDN |