Q9UBN1
Gene name |
CACNG4 |
Protein name |
Voltage-dependent calcium channel gamma-4 subunit |
Names |
Neuronal voltage-gated calcium channel gamma-4 subunit, Transmembrane AMPAR regulatory protein gamma-4, TARP gamma-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27092 |
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 Q9UBN1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBN1-F1 | Predicted | AlphaFoldDB |
230 variants for Q9UBN1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1598096754 CA400687325 |
2 | V>G | No |
ClinGen Ensembl |
|
|
CA400687326 rs1290442329 |
3 | R>G | No |
ClinGen TOPMed |
|
|
rs1364390557 CA400687328 |
3 | R>Q | No |
ClinGen gnomAD |
|
|
CA400687336 rs1410874768 |
4 | C>Y | No |
ClinGen TOPMed |
|
|
rs780252263 CA8721587 |
6 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA8721589 rs768937082 |
7 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA400687378 rs1439174114 |
10 | M>I | No |
ClinGen TOPMed |
|
|
rs1349965849 CA400687380 |
11 | L>V | No |
ClinGen TOPMed |
|
|
CA8721590 rs781066654 |
14 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1289759239 CA400687404 |
15 | A>G | No |
ClinGen gnomAD |
|
|
CA400687400 rs1230238086 |
15 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs866713299 CA293162840 |
20 | A>D | No |
ClinGen Ensembl |
|
|
CA400687448 rs1331489369 |
22 | S>* | No |
ClinGen TOPMed |
|
|
CA400687450 rs1331489369 |
22 | S>L | No |
ClinGen TOPMed |
|
|
rs1254621340 CA400687446 |
22 | S>P | No |
ClinGen gnomAD |
|
|
CA293162841 rs868475132 |
25 | A>T | No |
ClinGen Ensembl |
|
|
rs1482347470 CA400687491 |
29 | G>S | No |
ClinGen gnomAD |
|
|
rs1181588942 CA400687518 |
32 | Y>* | No |
ClinGen gnomAD |
|
|
CA293162843 rs564332565 |
34 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs759399090 CA8721594 |
34 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775368039 CA8721596 |
37 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760174920 CA8721597 |
39 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA400687571 rs1309269637 |
40 | I>M | No |
ClinGen gnomAD |
|
|
CA400687566 rs1357512435 |
40 | I>V | No |
ClinGen gnomAD |
|
|
rs1334654661 CA400687589 |
43 | G>R | No |
ClinGen gnomAD |
|
|
rs761432718 CA8721600 |
45 | N>S | No |
ClinGen ExAC |
|
|
CA400687617 rs1445467751 |
47 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA400687618 rs1358950096 CA400687620 |
48 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400687619 rs1358950096 |
48 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1467171307 CA400687636 |
50 | D>H | No |
ClinGen TOPMed |
|
|
rs1467171307 CA400687637 |
50 | D>Y | No |
ClinGen TOPMed |
|
|
rs758752801 CA8721603 |
51 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA8721605 rs751958946 |
52 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780342055 CA8721604 |
52 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781501745 CA8721607 |
53 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8721608 rs748144448 |
53 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA400687656 rs1296665969 |
54 | P>T | No |
ClinGen Ensembl |
|
|
rs866103390 CA293162936 |
55 | R>H | No |
ClinGen TOPMed |
|
|
CA400687665 rs866103390 |
55 | R>P | No |
ClinGen TOPMed |
|
|
rs1169983327 CA400687681 |
58 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1169983327 CA400687680 |
58 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400687683 rs1387782646 |
58 | R>P | No |
ClinGen gnomAD |
|
|
rs1404180079 CA400687699 |
61 | L>I | No |
ClinGen gnomAD |
|
|
CA400687708 rs1238373565 |
62 | T>S | No |
ClinGen gnomAD |
|
|
rs1598096898 CA400687755 |
69 | V>G | No |
ClinGen Ensembl |
|
|
rs778981141 CA8721610 |
70 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1354971794 CA400687773 |
72 | I>V | No |
ClinGen gnomAD |
|
|
COSM1750241 rs1258618666 CA400690150 |
74 | G>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs868611942 CA293162948 |
74 | G>R | No |
ClinGen Ensembl |
|
|
CA400690154 rs1303889244 |
75 | I>V | No |
ClinGen TOPMed |
|
|
rs1390279729 CA400690172 |
77 | K>R | No |
ClinGen TOPMed |
|
|
CA293187374 rs866944756 |
81 | F>I | No |
ClinGen Ensembl |
|
|
rs201531279 CA8721657 |
82 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1721629 CA8721656 rs758357413 |
82 | R>W | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1412530029 CA400690269 |
84 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1194651759 CA400690332 |
88 | E>D | No |
ClinGen TOPMed |
|
|
CA293187412 rs768565187 |
89 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8721659 rs768565187 |
89 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219255342 CA400690349 |
90 | N>H | No |
ClinGen gnomAD |
|
|
rs200886756 CA293187414 |
92 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1453288345 COSM294209 CA400690396 |
93 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772670298 CA8721663 |
97 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA400690503 rs1284709622 |
99 | Y>F | No |
ClinGen TOPMed |
|
|
rs964813318 CA293187467 |
101 | L>F | No |
ClinGen TOPMed |
|
|
CA293193256 rs920965378 |
103 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8721694 rs781015406 |
104 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs111539823 CA8721692 |
104 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8721693 rs111539823 |
104 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8721695 COSM1385373 rs141844181 |
105 | R>* | large_intestine Variant assessed as Somatic; 5.822e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400691471 rs1466892036 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs35104874 CA8721698 |
109 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400691587 rs1212232030 |
115 | T>A | No |
ClinGen gnomAD |
|
|
CA400691585 rs1212232030 |
115 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400691661 rs1203286027 |
121 | G>D | No |
ClinGen gnomAD |
|
|
CA293193311 rs896547023 |
125 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1184803592 CA400691713 COSM1130193 |
126 | G>S | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8721705 rs761113164 |
130 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8721706 rs79368381 |
131 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA293193346 rs905485925 |
133 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8721709 rs576033468 |
133 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576033468 CA8721708 |
133 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8721711 rs762993412 |
135 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs368186078 CA8721712 |
137 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400691856 rs535107281 |
138 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8721714 rs535107281 |
138 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753605926 CA8721716 |
140 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867745736 CA293193398 |
142 | G>D | No |
ClinGen Ensembl |
|
|
rs778475274 CA8721718 COSM252406 |
142 | G>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA293193402 rs892610491 |
143 | I>M | No |
ClinGen Ensembl |
|
|
CA293193424 rs753058412 |
146 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8721720 rs757910048 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA400693962 rs1289644583 |
149 | G>A | No |
ClinGen gnomAD |
|
|
rs1359441937 CA400693971 |
151 | S>C | No |
ClinGen gnomAD |
|
|
rs759660487 CA8721754 |
153 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1275655031 CA400693993 |
154 | I>V | No |
ClinGen gnomAD |
|
|
CA8721755 rs763983450 |
155 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776495231 CA8721756 |
158 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8721758 rs764880228 |
163 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8721759 rs750240349 |
166 | D>E | No |
ClinGen ExAC |
|
|
rs1429761313 CA400694080 |
167 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8721761 rs766155308 |
169 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA293196630 rs910219206 |
170 | K>E | No |
ClinGen TOPMed |
|
|
rs910219206 CA293196627 |
170 | K>Q | No |
ClinGen TOPMed |
|
|
CA400694099 rs1409179857 |
170 | K>T | No |
ClinGen gnomAD |
|
|
CA8721762 rs371128228 |
171 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334540214 CA400694105 |
171 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA400694118 rs1313086207 |
173 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA400694128 rs1382146559 |
174 | D>G | No |
ClinGen gnomAD |
|
|
rs781720730 CA8721766 CA8721764 |
176 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA400694155 rs777957813 |
178 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs777957813 CA8721767 |
178 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200930655 CA8721770 |
184 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs779141825 CA8721771 |
184 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8721772 rs779141825 |
184 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8721773 rs779141825 COSM1680018 |
184 | S>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs769804633 CA8721777 |
186 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs775650159 CA8721775 |
186 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA8721776 rs775650159 |
186 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA8721778 rs772838264 |
187 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA400694219 rs1435294988 |
187 | F>S | No |
ClinGen TOPMed |
|
|
CA8721779 rs762893640 |
188 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA400694227 rs1475025442 |
189 | A>T | No |
ClinGen gnomAD |
|
|
rs1185672737 CA400694235 |
190 | L>P | No |
ClinGen gnomAD |
|
|
CA8721781 rs147716893 |
197 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147716893 CA400694282 |
197 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766880996 CA8721783 |
198 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8721785 rs761954756 |
200 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8721786 rs778392195 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA400694310 rs1227324723 |
203 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1598129271 CA400694328 |
205 | I>T | No |
ClinGen Ensembl |
|
|
CA8721787 rs754169853 |
207 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400694340 rs1284421377 |
207 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8721788 rs757682065 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8721790 rs199939691 |
212 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8721791 rs772341192 |
213 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598129303 CA400694391 |
214 | R>K | No |
ClinGen Ensembl |
|
|
CA8721792 rs779960691 |
216 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970783926 CA293196749 |
218 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA293196759 rs1002246421 |
219 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747138146 COSM243462 CA8721793 |
219 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1213632412 CA400694435 |
221 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 222 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454495826 CA400694460 |
224 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400694464 rs1382898107 |
225 | S>P | No |
ClinGen gnomAD |
|
|
CA8721795 rs200489504 |
227 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8721796 rs762838519 |
228 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8721797 rs770908900 |
233 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs774303379 CA8721798 |
234 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752125531 CA8721801 |
239 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8721800 rs767219625 |
239 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400694560 rs1271021237 |
240 | R>* | No |
ClinGen gnomAD |
|
|
rs760271953 CA400694561 |
240 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs760271953 CA8721802 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1250950895 CA400694567 |
241 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA400694564 rs1198502508 |
241 | R>W | No |
ClinGen gnomAD |
|
|
rs375347933 CA8721803 |
242 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202135500 CA8721804 |
242 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757772003 COSM983198 CA8721805 |
243 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1164270280 CA400694579 |
244 | R>K | No |
ClinGen gnomAD |
|
|
CA400694582 rs780374055 |
244 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1417700053 CA400694585 |
245 | S>P | No |
ClinGen TOPMed |
|
|
rs747028631 CA8721810 |
246 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs989387905 CA293196824 |
246 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200921531 CA293196830 |
247 | S>P | No |
ClinGen TOPMed |
|
|
rs1567761455 CA400694611 |
249 | S>Y | No |
ClinGen Ensembl |
|
|
rs755157652 CA8721811 |
250 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs370622371 CA293196837 |
251 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA400694628 rs1334779642 |
252 | A>S | No |
ClinGen gnomAD |
|
|
CA400694637 COSM380914 rs1230291904 |
253 | S>L | lung Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA293196855 rs376262241 CA8721816 |
258 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs376262241 CA8721817 |
258 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA400694672 rs1481510444 |
259 | S>L | No |
ClinGen gnomAD |
|
|
CA293196868 rs932358745 |
261 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1274702846 CA400694693 |
262 | G>D | No |
ClinGen TOPMed |
|
|
CA400694696 rs1184362272 |
263 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 264 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400694703 rs1279592730 |
264 | K>R | No |
ClinGen gnomAD |
|
|
CA400694715 rs1387149745 |
266 | T>A | No |
ClinGen gnomAD |
|
|
rs1233357194 CA400694726 |
268 | A>T | No |
ClinGen TOPMed |
|
|
CA293196871 rs1049519654 |
269 | I>L | No |
ClinGen TOPMed |
|
|
rs929227780 CA293196872 |
270 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400694749 rs1296775828 |
271 | M>I | No |
ClinGen gnomAD |
|
|
CA400694747 rs1567761503 |
271 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs866333708 CA293196875 |
273 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 275 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567761508 CA400694771 |
275 | S>P | No |
ClinGen Ensembl |
|
|
CA293196881 rs762265124 |
276 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8721823 rs762265124 |
276 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8721822 rs776121743 |
276 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1258502203 CA400694795 |
278 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8721824 rs149010646 |
279 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8721825 rs371870032 |
282 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378871517 CA400694826 |
284 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1204567430 CA400694850 |
287 | T>S | No |
ClinGen gnomAD |
|
|
CA8721830 rs781356523 |
289 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs375114114 CA8721829 |
289 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400694866 rs1409412572 |
290 | A>G | No |
ClinGen TOPMed |
|
|
rs1430803175 CA400694862 |
290 | A>T | No |
ClinGen gnomAD |
|
|
CA8721832 rs115238163 |
295 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8721833 rs569774258 |
296 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8721834 rs373248340 |
298 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771955211 CA8721835 |
299 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA400694940 rs1294697731 |
301 | L>M | No |
ClinGen gnomAD |
|
|
CA8721836 rs775161356 |
301 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8721837 rs746604287 |
302 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA293196987 rs1007043136 |
303 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8721838 rs768326835 |
304 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8721839 rs776072571 |
305 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317413380 CA400695012 |
311 | L>V | No |
ClinGen TOPMed |
|
|
rs1486853842 CA400695021 |
312 | K>T | No |
ClinGen gnomAD |
|
|
rs893913240 CA293196997 |
314 | G>S | No |
ClinGen TOPMed |
|
|
rs765702561 CA8721841 |
315 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs137899115 CA293197010 |
316 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762818108 CA8721843 |
317 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413552230 CA400695192 |
319 | M>I | No |
ClinGen gnomAD |
|
|
rs561608193 CA293197017 |
319 | M>K | No |
ClinGen TOPMed |
|
|
CA8721845 rs751878206 |
322 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400695274 rs1427963530 |
323 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8721846 rs140902954 |
323 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400695277 rs1427963530 |
323 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8721847 rs767898217 |
324 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598129687 CA400695317 |
325 | T>P | No |
ClinGen Ensembl |
No associated diseases with Q9UBN1
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| AMPA glutamate receptor complex | An assembly of four or five subunits which form a structure with an extracellular N-terminus and a large loop that together form the ligand binding domain. The C-terminus is intracellular. The ionotropic glutamate receptor complex itself acts as a ligand gated ion channel; on binding glutamate, charged ions pass through a channel in the center of the receptor complex. The AMPA receptors mediate fast synaptic transmission in the CNS and are composed of subunits GluR1-4, products from separate genes. These subunits have an extracellular N-terminus and an intracellular C-terminus. |
| cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| endocytic vesicle membrane | The lipid bilayer surrounding an endocytic vesicle. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic density membrane | The component of the postsynaptic density membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| L-type voltage-gated calcium channel complex | A type of voltage-dependent calcium channel responsible for excitation-contraction coupling of skeletal, smooth, and cardiac muscle. 'L' stands for 'long-lasting' referring to the length of activation. |
| 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 membrane | The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated. |
| somatodendritic compartment | The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium channel regulator activity | Modulates the activity of a calcium channel. |
| channel regulator activity | Bonds to and modulates the activity of a channel. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. |
| ionotropic glutamate receptor binding | Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels. |
| voltage-gated calcium channel activity | Enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| neurotransmitter receptor internalization | A receptor-mediated endocytosis process that results in the internalization of a neurotransmitter receptor. |
| neurotransmitter receptor transport, postsynaptic endosome to lysosome | The directed movement of neurotransmitter receptor from the postsynaptic endosome in tranpsort vesicles to the lysosome for degradation. |
| positive regulation of AMPA receptor activity | Any process that activates or increases the frequency, rate or extent of AMPA selective glutamate receptor activity. |
| positive regulation of synaptic transmission, glutamatergic | Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| postsynaptic neurotransmitter receptor diffusion trapping | The process by which diffusing neurotransmitter receptor becomes trapped at the postsynaptic specialization membrane. This is typically due to interaction with components of the post-synaptic specialization. |
| regulation of AMPA receptor activity | Any process that modulates the frequency, rate or extent of AMPA selective glutamate receptor activity. |
| regulation of postsynaptic neurotransmitter receptor activity | Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. |
| response to cocaine | 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 cocaine stimulus. Cocaine is a crystalline alkaloid obtained from the leaves of the coca plant. |
| transmission of nerve impulse | The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVRCDRGLQM | LLTTAGAFAA | FSLMAIAIGT | DYWLYSSAHI | CNGTNLTMDD | GPPPRRARGD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTHSGLWRVC | CIEGIYKGHC | FRINHFPEDN | DYDHDSSEYL | LRIVRASSVF | PILSTILLLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GGLCIGAGRI | YSRKNNIVLS | AGILFVAAGL | SNIIGIIVYI | SSNTGDPSDK | RDEDKKNHYN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YGWSFYFGAL | SFIVAETVGV | LAVNIYIEKN | KELRFKTKRE | FLKASSSSPY | ARMPSYRYRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRSRSSSRST | EASPSRDVSP | MGLKITGAIP | MGELSMYTLS | REPLKVTTAA | SYSPDQEASF |
| 310 | 320 | ||||
| LQVHDFFQQD | LKEGFHVSML | NRRTTPV |