Q9BPV8
PR
Gene name |
P2RY13 (GPR86, GPR94, FKSG77) |
Protein name |
P2Y purinoceptor 13 |
Names |
P2Y13, G-protein coupled receptor 86, G-protein coupled receptor 94 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:53829 |
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 Q9BPV8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BPV8-F1 | Predicted | AlphaFoldDB |
298 variants for Q9BPV8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1577346050 CA354977991 |
2 | T>P | No |
ClinGen Ensembl |
|
|
CA2667741 rs775853815 |
3 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4136990 rs139632884 CA2667739 |
4 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs907526968 CA85721941 |
5 | I>M | No |
ClinGen Ensembl |
|
|
rs199907771 CA2667738 |
5 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560035683 CA354977891 |
8 | Q>H | No |
ClinGen Ensembl |
|
|
rs770903652 CA354977881 |
10 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770903652 CA354977882 |
10 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770903652 CA2667737 |
10 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949361307 CA85721933 |
12 | S>N | No |
ClinGen Ensembl |
|
|
CA354977852 rs1577345897 |
14 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 15 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451516284 CA354977842 |
16 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1451516284 CA354977844 |
16 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA354977839 rs1577345875 |
16 | K>R | No |
ClinGen Ensembl |
|
|
rs766350629 CA2667723 |
17 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466243562 CA354977655 |
20 | E>D | No |
ClinGen TOPMed |
|
|
rs749980757 CA2667721 |
20 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2667722 rs749980757 |
20 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs764745405 CA354977651 |
21 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764745405 CA2667720 |
21 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354977628 rs141361811 CA2667719 |
22 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776306831 CA2667718 |
23 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1360716223 CA354977581 |
26 | V>A | No |
ClinGen gnomAD |
|
|
CA354977583 rs1360716223 |
26 | V>E | No |
ClinGen gnomAD |
|
|
rs772423641 CA2667717 |
26 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667716 rs759952511 |
27 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85721742 rs749193587 |
29 | G>V | No |
ClinGen Ensembl |
|
|
rs771476846 CA2667714 |
31 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2667715 rs774782565 |
31 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354977491 rs1464507733 |
32 | R>T | No |
ClinGen gnomAD |
|
|
CA354977457 rs1189050105 |
34 | E>V | No |
ClinGen gnomAD |
|
|
CA354977441 rs371578438 |
35 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1536977 CA2667711 rs371578438 |
35 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773366464 CA2667712 |
35 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354977440 rs1473210909 |
36 | C>S | No |
ClinGen TOPMed |
|
|
CA354977417 rs1158083512 |
37 | P>R | No |
ClinGen TOPMed |
|
|
CA2667710 rs146597143 |
38 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781282890 CA2667709 |
40 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354977372 rs1200037078 |
41 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs754757932 CA2667708 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354977358 rs1405928932 |
42 | I>R | No |
ClinGen TOPMed |
|
|
CA2667707 rs746804027 |
43 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354977338 rs1257306724 |
44 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA354977340 rs1257306724 |
44 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1233849357 CA354977311 |
46 | V>L | No |
ClinGen gnomAD |
|
|
rs867914537 CA85721672 |
47 | F>L | No |
ClinGen Ensembl |
|
|
CA2667706 rs779815610 |
50 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667705 rs758381185 |
52 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1577344361 CA354977220 |
53 | V>A | No |
ClinGen Ensembl |
|
|
CA85721664 rs902661215 |
54 | V>I | No |
ClinGen TOPMed |
|
|
rs1055421055 CA85721663 |
55 | F>S | No |
ClinGen TOPMed |
|
|
CA85721660 rs868119745 |
58 | G>D | No |
ClinGen Ensembl |
|
|
rs936533736 CA85721662 |
58 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372729106 CA85721658 |
59 | I>T | No |
ClinGen Ensembl |
|
|
rs756829710 CA2667702 |
66 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2667700 rs763750367 |
69 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2667699 rs759831858 |
70 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277334026 CA354976986 |
72 | I>M | No |
ClinGen TOPMed |
|
|
rs774813657 CA2667697 |
72 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2667696 rs766749093 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577344194 CA354976925 |
77 | T>I | No |
ClinGen Ensembl |
|
|
rs1262461075 CA354976866 |
81 | Y>* | No |
ClinGen TOPMed |
|
|
rs748249195 CA2667692 |
81 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214179778 CA354976819 |
85 | T>I | No |
ClinGen gnomAD |
|
|
rs1227578058 CA354976806 |
86 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs769029900 CA2667690 |
86 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA85721595 rs967488878 |
88 | A>S | No |
ClinGen Ensembl |
|
|
rs746749067 CA2667689 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1376178770 CA354976776 |
89 | D>A | No |
ClinGen gnomAD |
|
|
CA354976771 rs1055009153 |
89 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2667687 rs747246139 |
89 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667685 rs778773836 |
91 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667684 rs756701413 |
95 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA354976633 rs1382581297 |
99 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85721534 rs987493533 |
103 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1379145180 CA354976516 |
109 | W>* | No |
ClinGen gnomAD |
|
|
CA354976511 rs1191323915 |
109 | W>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 112 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144128158 CA2667680 |
113 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144128158 CA354976463 |
113 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354976458 rs1326423321 |
114 | F>I | No |
ClinGen TOPMed |
|
|
rs368981427 CA2667678 |
114 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354976432 rs1304227985 |
115 | V>A | No |
ClinGen gnomAD |
|
|
rs750882702 CA354976413 |
117 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542808259 CA2667676 |
117 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750882702 CA2667677 |
117 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184462683 CA2667674 |
118 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354976380 rs1322681529 |
119 | S>F | No |
ClinGen gnomAD |
|
|
rs575804697 CA85721450 |
120 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs768905525 CA2667673 |
120 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1176114027 CA354976345 |
122 | I>M | No |
ClinGen gnomAD |
|
|
CA2667671 rs200152293 |
123 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771887632 CA2667670 |
125 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2667669 rs745665642 |
125 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA354976311 rs1268247393 |
127 | M>I | No |
ClinGen TOPMed |
|
|
CA354976313 rs1265053963 |
127 | M>T | No |
ClinGen gnomAD |
|
|
CA2667668 rs563913195 |
128 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs770889205 CA2667667 |
129 | V>G | No |
ClinGen ExAC TOPMed |
|
|
CA354976294 rs1560034274 |
130 | G>C | No |
ClinGen Ensembl |
|
|
CA354976290 rs1378627478 |
131 | I>V | No |
ClinGen TOPMed |
|
|
CA354976279 rs1429932628 |
132 | V>G | No |
ClinGen TOPMed |
|
|
CA2667665 rs148391906 |
132 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144496684 CA2667663 |
135 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144496684 CA354976265 |
135 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215665537 CA354976259 |
136 | L>F | No |
ClinGen gnomAD |
|
|
CA354976255 rs1363166676 |
137 | I>L | No |
ClinGen TOPMed |
|
|
CA354976249 rs1276671546 |
137 | I>M | No |
ClinGen gnomAD |
|
|
rs1399820673 CA354976247 |
138 | A>T | No |
ClinGen gnomAD |
|
|
CA354976243 rs1356533560 |
138 | A>V | No |
ClinGen gnomAD |
|
|
CA85721378 rs866620319 |
139 | F>L | No |
ClinGen gnomAD |
|
|
CA354976238 rs1159733246 |
139 | F>S | No |
ClinGen gnomAD |
|
|
rs974375450 CA354976219 |
142 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2667662 rs200663977 |
142 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85721375 rs974375450 |
142 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 144 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667661 rs758720888 |
144 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1032617700 CA85721374 |
145 | I>S | No |
ClinGen TOPMed |
|
|
CA2667659 rs578001925 |
146 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs966937624 CA85721348 |
148 | P>L | No |
ClinGen TOPMed |
|
|
CA354976173 rs1256617458 |
149 | L>F | No |
ClinGen gnomAD |
|
|
rs138841969 CA2667657 |
149 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 150 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1054780321 CA85721321 |
151 | N>S | No |
ClinGen TOPMed |
|
|
rs1291180554 CA354976148 |
153 | F>I | No |
ClinGen TOPMed |
|
|
CA354976135 rs1482439582 |
155 | K>* | No |
ClinGen gnomAD |
|
|
rs936613622 CA85721307 |
156 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs368920684 CA2667655 |
156 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147188000 CA354976123 |
157 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772189699 CA2667653 |
157 | P>H | No |
ClinGen ExAC |
|
|
rs147188000 CA2667654 |
157 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1560033985 | 157 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85721282 rs199795727 |
158 | V>F | No |
ClinGen gnomAD |
|
|
rs199623818 CA2667652 |
162 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354976078 rs1218584463 |
164 | S>* | No |
ClinGen gnomAD |
|
|
CA354976076 rs1218584463 |
164 | S>L | No |
ClinGen gnomAD |
|
|
CA354976057 rs1315275961 |
167 | I>N | No |
ClinGen gnomAD |
|
|
CA354976056 rs1315275961 |
167 | I>T | No |
ClinGen gnomAD |
|
|
rs749197349 CA2667649 |
168 | W>S | No |
ClinGen ExAC |
|
|
rs1397410740 CA354976032 |
170 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354976023 rs376836205 |
171 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85721266 rs201802200 |
172 | F>L | No |
ClinGen gnomAD |
|
|
rs751271920 CA2667643 |
174 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2667645 rs780854560 |
174 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780854560 CA354976004 |
174 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945152607 CA85721261 |
174 | I>V | No |
ClinGen Ensembl |
|
|
rs779389899 CA354976003 |
175 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779389899 CA2667642 |
175 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322373814 CA354975986 |
178 | N>D | No |
ClinGen TOPMed |
|
|
CA2667640 rs754383910 |
179 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_028299 CA2667639 rs1466684 |
179 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs752753008 CA85721202 |
180 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs767732637 CA2667636 |
180 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85721193 rs767732637 |
180 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667637 rs752753008 |
180 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2667634 rs774600360 |
182 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766160966 CA2667633 |
183 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs954752105 CA85721177 |
183 | N>K | No |
ClinGen Ensembl |
|
|
rs1320101430 CA354975938 |
185 | E>D | No |
ClinGen TOPMed |
|
|
CA2667632 rs762746331 |
188 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1243122579 COSM1593379 CA354975924 |
188 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2667629 rs760204895 |
189 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667630 rs769647505 |
189 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2667628 rs775981509 |
190 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs974761001 CA85721160 |
190 | S>T | No |
ClinGen gnomAD |
|
|
CA2667627 rs188633801 |
194 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1295034775 CA354975887 |
194 | C>G | No |
ClinGen gnomAD |
|
|
rs188633801 CA2667626 |
194 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354975880 rs1159411334 |
195 | A>V | No |
ClinGen gnomAD |
|
|
rs1250338520 CA354975861 |
198 | K>T | No |
ClinGen TOPMed |
|
|
CA354975846 rs1560033565 |
200 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA85721151 rs963633242 |
200 | P>S | No |
ClinGen Ensembl |
|
|
rs921654890 CA85721150 |
202 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354975836 rs921654890 COSM1179872 |
202 | G>V | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2667625 rs779910558 |
204 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs757639633 CA2667624 |
205 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016469526 CA85721141 |
205 | W>C | No |
ClinGen Ensembl |
|
|
CA354975797 rs1425121179 |
208 | M>T | No |
ClinGen TOPMed |
|
|
CA2667623 rs149544268 |
208 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354975766 rs1164933189 |
212 | I>T | No |
ClinGen TOPMed |
|
|
CA2667622 rs756603051 |
213 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2667621 rs756603051 |
213 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1362703932 CA354975761 |
213 | C>Y | No |
ClinGen TOPMed |
|
|
CA354975728 COSM1133678 rs1287201043 |
217 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1455611709 CA354975715 |
219 | T>A | No |
ClinGen TOPMed |
|
|
rs1161254625 CA354975713 |
219 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 219 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355485131 CA354975708 |
220 | V>A | No |
ClinGen gnomAD |
|
|
CA2667620 rs753299486 |
220 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2667617 rs755157659 |
225 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 225 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667616 rs751770650 |
226 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs531618516 COSM1419955 CA85721093 |
227 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1419955 CA2667614 rs150366287 |
227 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354975632 rs1421738088 |
231 | I>T | No |
ClinGen gnomAD |
|
|
rs200013625 CA85721082 |
231 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1358917802 CA354975624 |
232 | A>P | No |
ClinGen gnomAD |
|
|
CA354975616 rs1158305647 |
232 | A>V | No |
ClinGen gnomAD |
|
|
rs200963598 CA85721071 |
233 | K>E | No |
ClinGen 1000Genomes |
|
| TCGA novel | 233 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773010566 CA2667613 |
233 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765128279 CA354975585 |
234 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354975579 rs1328540438 |
235 | V>L | No |
ClinGen TOPMed |
|
| rs771457469 | 235 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771457469 | 235 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85721046 rs767264751 |
236 | Y>* | No |
ClinGen gnomAD |
|
|
CA85721051 rs201673223 |
236 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| TCGA novel | 237 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569431405 CA2667610 |
239 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 240 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354975510 rs1319744181 |
240 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775216984 CA2667606 |
241 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs746532106 CA2667607 |
241 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA85721028 rs746195218 |
242 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746195218 CA2667605 |
242 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs749622675 CA2667604 |
244 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2667603 rs777980296 |
245 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756545023 CA2667602 |
247 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2667600 rs748602377 |
249 | N>K | No |
ClinGen ExAC |
|
|
CA354975337 rs1577342154 |
249 | N>S | No |
ClinGen Ensembl |
|
|
rs561301002 CA85721016 |
252 | K>E | No |
ClinGen Ensembl |
|
|
rs1471337877 CA354975258 |
253 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 254 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354975247 rs1160689762 |
254 | E>Q | No |
ClinGen TOPMed |
|
|
rs759096971 CA85721011 |
256 | K>E | No |
ClinGen TOPMed |
|
|
CA354975187 rs1469177413 |
257 | V>E | No |
ClinGen TOPMed |
|
| TCGA novel | 257 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85721004 rs1000530433 |
258 | F>S | No |
ClinGen Ensembl |
|
|
rs754980456 CA2667598 |
259 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354975114 rs1404438401 |
261 | V>A | No |
ClinGen gnomAD |
|
|
CA2667595 rs377720689 |
261 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 261 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170956423 CA354975104 |
262 | A>T | No |
ClinGen gnomAD |
|
|
CA354975094 rs1469720704 |
262 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577341951 CA354975082 |
263 | V>G | No |
ClinGen Ensembl |
|
|
CA354975028 rs1196503068 |
266 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200030247 CA85720982 |
266 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1477016523 CA354975025 |
267 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354975002 rs1455021157 |
270 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs945204880 CA85720971 |
276 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2667594 rs750682032 |
276 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA85720964 rs890940981 |
278 | Y>H | No |
ClinGen Ensembl |
|
|
CA2667593 rs764935400 |
279 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376103971 CA85720931 |
285 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs61736003 CA2667590 |
290 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs975190098 CA85720923 |
291 | L>R | No |
ClinGen Ensembl |
|
|
CA354974857 rs1220622082 |
291 | L>V | No |
ClinGen Ensembl |
|
|
rs760223474 CA354974813 |
297 | I>N | No |
ClinGen ExAC TOPMed |
|
|
rs760223474 CA2667588 |
297 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs148292157 CA2667587 |
298 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2667586 rs771759173 |
298 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269448762 CA354974799 |
300 | E>K | No |
ClinGen gnomAD |
|
|
CA2667585 rs759235588 |
302 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332241263 CA354974748 |
307 | A>V | No |
ClinGen gnomAD |
|
|
rs1183735382 CA354974743 |
308 | T>I | No |
ClinGen TOPMed |
|
|
rs770045022 CA2667582 |
310 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85720856 rs1025591839 |
311 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2667579 rs769169595 |
313 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs781507151 CA2667580 |
313 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2667578 rs747561399 |
314 | P>S | No |
ClinGen ExAC |
|
|
rs780075715 CA2667577 |
318 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1419242485 CA354974677 |
318 | I>V | No |
ClinGen gnomAD |
|
|
rs369934525 CA2667576 COSM1593380 |
319 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA85720816 rs992331106 |
319 | F>S | No |
ClinGen Ensembl |
|
|
CA2667574 rs376418702 |
324 | F>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750596329 CA2667573 |
324 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779208733 CA2667572 |
326 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA354974511 rs371851954 |
327 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2667569 rs200097493 |
330 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272000631 CA354974463 |
330 | C>W | No |
ClinGen gnomAD |
|
|
rs201083333 CA2667568 |
331 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2667567 rs752724201 |
332 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2667566 rs767135062 |
335 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759179323 CA2667565 |
337 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377652232 CA354974344 |
337 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1445195988 CA354974332 |
338 | A>E | No |
ClinGen gnomAD |
|
|
CA2667564 rs145063671 |
338 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770644573 CA2667563 |
339 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs777028773 CA2667561 |
342 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354974248 rs1412096125 |
343 | N>S | No |
ClinGen gnomAD |
|
|
CA354974219 rs769046736 |
344 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2667559 rs747508218 |
345 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2667558 rs780595250 |
346 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1445262301 CA354974136 |
350 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354974106 rs1232197525 |
352 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs772080675 CA2667555 |
354 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA354974048 rs1435886411 |
355 | G>L | No |
ClinGen gnomAD |
|
|
CA2667553 rs778963652 |
355 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BPV8
5 regional properties for Q9BPV8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Glutaredoxin | 72 - 135 | IPR002109 |
| domain | Glutaredoxin, eukaryotic/virial | 72 - 153 | IPR011899 |
| domain | Glutaredoxin subgroup | 72 - 90 | IPR014025-1 |
| domain | Glutaredoxin subgroup | 118 - 131 | IPR014025-2 |
| domain | Glutaredoxin subgroup | 132 - 145 | IPR014025-3 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled purinergic nucleotide receptor activity | Combining with a purine nucleotide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to organic cyclic compound | 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 an organic cyclic compound stimulus. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| negative regulation of adenylate cyclase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of adenylate cyclase activity. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9H244 | P2RY12 | P2Y purinoceptor 12 | Homo sapiens (Human) | PR |
| Q9UPC5 | GPR34 | Probable G-protein coupled receptor 34 | Homo sapiens (Human) | PR |
| Q9CPV9 | P2ry12 | P2Y purinoceptor 12 | Mus musculus (Mouse) | PR |
| Q9D8I2 | P2yr13 | P2Y purinoceptor 13 | Mus musculus (Mouse) | PR |
| Q9EPX4 | P2ry12 | P2Y purinoceptor 12 | Rattus norvegicus (Rat) | PR |
| Q6GUG4 | P2ry13 | P2Y purinoceptor 13 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTAAIRRQRE | LSILPKVTLE | AMNTTVMQGF | NRSERCPRDT | RIVQLVFPAL | YTVVFLTGIL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LNTLALWVFV | HIPSSSTFII | YLKNTLVADL | IMTLMLPFKI | LSDSHLAPWQ | LRAFVCRFSS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VIFYETMYVG | IVLLGLIAFD | RFLKIIRPLR | NIFLKKPVFA | KTVSIFIWFF | LFFISLPNTI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSNKEATPSS | VKKCASLKGP | LGLKWHQMVN | NICQFIFWTV | FILMLVFYVV | IAKKVYDSYR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KSKSKDRKNN | KKLEGKVFVV | VAVFFVCFAP | FHFARVPYTH | SQTNNKTDCR | LQNQLFIAKE |
| 310 | 320 | 330 | 340 | 350 | |
| TTLFLAATNI | CMDPLIYIFL | CKKFTEKLPC | MQGRKTTASS | QENHSSQTDN | ITLG |