P08908
PR
Gene name |
HTR1A (ADRB2RL1, ADRBRL1) |
Protein name |
5-hydroxytryptamine receptor 1A |
Names |
5-HT-1A, 5-HT1A, G-21, Serotonin receptor 1A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3350 |
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
384 variants for P08908
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280996 rs757955796 |
2 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs200251982 CA3280995 |
3 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359956125 rs1429353062 |
5 | S>N | No |
ClinGen gnomAD |
|
|
rs1427602417 CA359956104 |
7 | G>D | No |
ClinGen gnomAD |
|
|
rs537575957 CA120239580 |
8 | Q>R | No |
ClinGen Ensembl |
|
|
rs201221036 CA359956088 |
9 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3280992 rs201221036 |
9 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473053420 CA359956066 |
10 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201654331 CA3280990 |
11 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3280991 rs201654331 |
11 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359956044 rs199681622 |
12 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280989 rs199681622 |
12 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359956040 rs1295377505 |
13 | T>A | No |
ClinGen TOPMed |
|
|
rs1399962663 CA359956017 |
15 | P>Q | No |
ClinGen TOPMed |
|
|
VAR_003446 COSM149843 RCV000885325 CA3280988 rs1800041 |
16 | P>L | stomach [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs775618804 CA3280986 |
17 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359956004 rs775618804 |
17 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359956000 rs1312450799 |
17 | A>V | No |
ClinGen TOPMed |
|
|
rs372962077 CA3280984 |
18 | P>L | No |
ClinGen ESP ExAC |
|
|
CA3280985 rs769995349 |
18 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs977172338 CA120239579 |
19 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359955961 rs1329474310 |
20 | E>D | No |
ClinGen gnomAD |
|
|
CA120239578 rs138639292 |
21 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA120239577 rs1799920 |
22 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280982 rs1799920 VAR_011826 |
22 | G>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs777788129 CA3280980 |
23 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1323000923 CA359955922 |
24 | N>S | No |
ClinGen gnomAD |
|
|
rs778633941 CA3280977 |
25 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA359955902 rs1157172126 |
26 | T>A | No |
ClinGen gnomAD |
|
|
VAR_011827 RCV000951076 CA3280974 rs1799921 |
28 | I>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3280972 rs751966197 CA3280973 |
30 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA359955859 rs1424623447 |
30 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359955842 rs1249942484 |
31 | V>G | No |
ClinGen Ensembl |
|
|
CA359955848 rs764663330 |
31 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3280971 rs764663330 |
31 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763513993 CA3280970 |
33 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936239418 CA120239574 |
35 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs200981219 CA120239575 |
35 | Y>H | No |
ClinGen gnomAD |
|
|
CA359955768 rs1312837294 |
38 | I>N | No |
ClinGen gnomAD |
|
|
rs759721599 CA3280967 |
39 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA359955759 rs759721599 |
39 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA120239573 rs200597572 |
40 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1363080615 CA359955726 |
44 | G>S | No |
ClinGen TOPMed |
|
|
rs777505491 CA3280963 |
50 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs558561257 CA120239572 |
50 | A>S | No |
ClinGen Ensembl |
|
|
rs772131512 CA3280962 |
51 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3280960 rs778545977 |
53 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA359955612 rs1302647797 |
54 | N>S | No |
ClinGen TOPMed |
|
|
CA359955601 rs1396274167 |
55 | A>E | No |
ClinGen TOPMed |
|
|
rs1396274167 CA359955599 |
55 | A>G | No |
ClinGen TOPMed |
|
|
rs1163044674 CA359955579 |
56 | C>* | No |
ClinGen gnomAD |
|
|
rs898500423 CA120239571 |
57 | V>L | No |
ClinGen Ensembl |
|
|
rs375977137 CA3280957 |
61 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748855705 CA3280958 |
61 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359955528 rs1428970401 |
62 | A>S | No |
ClinGen gnomAD |
|
|
CA3280955 rs751944692 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs917281761 CA120239568 |
63 | L>M | No |
ClinGen Ensembl |
|
|
CA359955488 rs1489274740 |
65 | R>L | No |
ClinGen gnomAD |
|
|
rs764496968 CA3280954 |
65 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1221106719 CA359955478 |
66 | S>F | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359955458 rs1356621942 |
68 | Q>H | No |
ClinGen gnomAD |
|
|
rs937455963 CA120239567 |
68 | Q>L | No |
ClinGen Ensembl |
|
|
rs1277472972 CA359955453 |
69 | N>D | No |
ClinGen gnomAD |
|
|
rs1326266023 CA359955445 |
69 | N>K | No |
ClinGen gnomAD |
|
|
CA3280952 rs753240653 |
69 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201160588 CA120239566 |
70 | V>M | No |
ClinGen gnomAD |
|
|
CA120239565 rs920591557 |
72 | N>S | No |
ClinGen gnomAD |
|
|
CA120239564 rs199847800 |
74 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 78 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359955332 rs1422885093 COSM1438122 |
79 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA359955274 rs868535654 |
85 | V>L | No |
ClinGen Ensembl |
|
|
rs868535654 CA120239563 |
85 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA120239561 CA120239562 rs201675006 |
87 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
| TCGA novel | 91 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200062934 CA120239559 |
92 | M>L | No |
ClinGen Ensembl |
|
|
rs201953609 CA120239558 |
92 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359955188 rs1579954628 |
93 | A>T | No |
ClinGen Ensembl |
|
|
CA3280945 rs773047155 |
94 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280942 rs201760902 |
99 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1175917615 CA359955087 |
102 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1313137301 CA359955073 |
103 | T>I | No |
ClinGen gnomAD |
|
|
rs1282956328 CA359955058 |
105 | G>S | No |
ClinGen gnomAD |
|
|
CA359955001 rs1160515144 |
109 | C>W | No |
ClinGen Ensembl |
|
|
CA359954998 rs962187267 |
110 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs962187267 CA120239556 |
110 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748848484 CA3280940 |
111 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779492405 CA3280939 |
113 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1467451068 CA359954951 |
114 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755773890 CA3280938 |
115 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359954928 rs1479266939 |
116 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1309360767 CA359954898 |
118 | L>P | No |
ClinGen TOPMed |
|
|
rs778078124 CA3280936 |
119 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs954578507 CA120239555 |
121 | T>A | No |
ClinGen Ensembl |
|
|
rs140105110 CA120239554 |
123 | S>A | No |
ClinGen ESP |
|
|
rs1008675652 CA120239553 |
123 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3280934 rs750636045 |
124 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1249110171 CA359954825 |
125 | L>S | No |
ClinGen gnomAD |
|
|
rs765745470 CA3280933 |
129 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1328732 rs1222021133 CA359954762 |
131 | A>T | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 133 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766427659 CA3280930 |
134 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359954717 rs1289208359 |
135 | Y>S | No |
ClinGen gnomAD |
|
|
CA359954692 rs1334049995 |
137 | A>T | No |
ClinGen gnomAD |
|
|
CA3280929 rs760931046 |
139 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA120239550 rs1029278109 |
140 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 140 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774360620 CA359954623 |
142 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs562559511 CA3280926 |
142 | I>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs768723506 CA3280924 |
144 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359954587 rs1469242763 |
145 | V>A | No |
ClinGen gnomAD |
|
|
rs199752875 CA3280923 |
145 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199752875 CA3280922 |
145 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120239549 rs201519698 |
147 | K>E | No |
ClinGen TOPMed |
|
|
rs780855295 CA3280919 |
148 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1234703183 CA359954537 |
149 | T>R | No |
ClinGen TOPMed |
|
|
rs1179418467 CA359954541 |
149 | T>S | No |
ClinGen TOPMed |
|
|
CA3280917 rs748526206 |
150 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280915 rs755504345 |
151 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 152 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280913 rs201954577 |
152 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120239548 rs201954577 |
152 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000963012 CA3280912 rs145641566 |
155 | A>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA120239546 rs201277583 |
158 | S>L | No |
ClinGen Ensembl |
|
|
rs1399736027 CA359954367 |
165 | F>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 166 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280908 rs751399601 |
167 | I>F | No |
ClinGen ExAC |
|
|
CA3280907 rs751399601 |
167 | I>L | No |
ClinGen ExAC |
|
|
CA3280906 rs763839609 |
167 | I>M | No |
ClinGen ExAC |
|
|
rs146873107 CA3280905 COSM461968 |
168 | S>F | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1164498057 CA359954341 |
168 | S>P | No |
ClinGen gnomAD |
|
|
CA359954313 rs1433721428 |
170 | P>L | No |
ClinGen TOPMed |
|
|
rs775315146 CA3280904 |
171 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs202063419 CA120239545 |
171 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA120239544 rs200892898 |
176 | R>C | No |
ClinGen TOPMed |
|
|
rs1445530254 CA359954232 |
177 | T>I | No |
ClinGen gnomAD |
|
|
rs866583500 CA120239543 |
179 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 179 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223344777 CA359954194 |
181 | R>S | No |
ClinGen gnomAD |
|
|
rs112846276 CA359954184 |
182 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112846276 RCV000899353 CA3280899 |
182 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs112846276 CA120239542 |
182 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1800043 CA359954173 |
184 | P>H | No |
ClinGen TOPMed |
|
|
rs1800043 CA120239540 VAR_011828 |
184 | P>L | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA359954174 rs779217199 |
184 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280898 rs779217199 |
184 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452211745 CA359954171 |
185 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3280895 rs537559050 |
186 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1438119 CA3280896 rs557845021 |
186 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3280894 rs149998895 |
188 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529984146 CA120239538 |
189 | I>F | No |
ClinGen Ensembl |
|
|
CA120239539 rs529984146 |
189 | I>V | No |
ClinGen Ensembl |
|
|
rs1324333436 CA359954136 |
190 | S>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 191 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405098010 CA359954122 |
192 | D>E | No |
ClinGen gnomAD |
|
|
rs781475070 CA3280892 |
192 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs954828937 CA359954124 |
192 | D>N | No |
ClinGen Ensembl |
|
|
rs781475070 CA3280893 |
192 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs954828937 CA120239537 |
192 | D>Y | No |
ClinGen Ensembl |
|
|
rs757525509 CA3280891 |
193 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879102441 CA120239536 |
195 | Y>* | No |
ClinGen Ensembl |
|
|
rs751883662 CA3280890 |
197 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3280889 rs763904022 |
199 | S>P | No |
ClinGen ExAC |
|
|
CA3280887 rs752614842 |
205 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359954034 rs1266156831 |
206 | I>L | No |
ClinGen gnomAD |
|
|
CA359954031 rs1474599448 |
206 | I>N | No |
ClinGen gnomAD |
|
|
rs949518910 CA120239535 COSM592951 |
207 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs949518910 CA359954023 |
207 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359954025 rs1248736722 |
207 | P>S | No |
ClinGen gnomAD |
|
|
CA3280885 rs759529264 |
208 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 209 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359953985 rs1403228466 |
214 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs760297873 CA3280882 |
215 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359953971 rs1273554893 |
216 | G>E | No |
ClinGen gnomAD |
|
|
rs867755853 CA120239532 |
216 | G>R | No |
ClinGen Ensembl |
|
|
CA359953967 rs1406728369 |
217 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772760594 CA3280881 |
217 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs769022804 CA3280880 |
218 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA3280879 rs377011173 |
219 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA120239531 rs957757364 |
220 | R>G | No |
ClinGen Ensembl |
|
|
VAR_011829 rs1800044 CA3280878 |
220 | R>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1443653373 CA359953941 |
222 | A>P | No |
ClinGen gnomAD |
|
|
rs746421729 CA3280876 |
222 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs555710952 COSM592954 CA3280875 |
223 | R>C | lung Variant assessed as Somatic; 0.0 impact. oesophagus [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM592955 CA3280874 rs757438767 |
223 | R>H | lung Variant assessed as Somatic; 0.0 impact. oesophagus [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1177483577 CA359953923 |
225 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359953917 rs1271701250 |
226 | I>F | No |
ClinGen TOPMed |
|
|
rs367863011 CA359953913 |
226 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359953909 COSM74957 rs1427412024 |
227 | R>H | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1427412024 CA359953907 |
227 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs879251256 CA120239530 |
229 | T>M | No |
ClinGen Ensembl |
|
|
rs1263148863 CA359953884 |
231 | K>R | No |
ClinGen TOPMed |
|
|
rs777864947 CA359953872 |
232 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486795930 CA359953852 |
235 | K>R | No |
ClinGen gnomAD |
|
|
rs758155850 CA3280871 |
236 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1223852313 CA359953842 |
237 | G>A | No |
ClinGen gnomAD |
|
|
CA3280869 rs201899093 COSM1620451 |
237 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201179587 CA3280865 |
239 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200711760 COSM1620450 CA120239526 |
239 | D>E | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs201179587 CA3280866 |
239 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359953824 rs1385336241 |
240 | T>I | No |
ClinGen TOPMed |
|
|
CA3280864 rs75236124 |
240 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs761581962 CA3280862 |
241 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775709782 CA3280861 |
241 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA3280860 rs770336424 |
242 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359953816 rs1440620503 |
242 | H>R | No |
ClinGen gnomAD |
|
|
rs150835535 CA3280859 |
243 | G>A | No |
ClinGen ESP ExAC TOPMed |
|
|
COSM1069287 CA3280858 rs142264665 |
244 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3280857 rs771070406 |
245 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs896078356 CA120239525 |
246 | P>H | No |
ClinGen TOPMed |
|
|
CA3280855 rs202078108 |
247 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758546216 CA3280854 |
247 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1468561116 CA359953787 |
248 | P>S | No |
ClinGen gnomAD |
|
|
rs1468561116 CA359953786 |
248 | P>T | No |
ClinGen gnomAD |
|
|
CA120239524 rs1029046608 COSM1544243 |
250 | P>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3280852 rs148698436 |
250 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3280850 rs753733145 |
251 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147211774 CA359953751 |
253 | S>I | No |
ClinGen ESP gnomAD |
|
|
rs147211774 CA120239523 |
253 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA359953731 rs1317040159 |
256 | G>A | No |
ClinGen gnomAD |
|
|
CA359953728 rs1305700771 |
257 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761266205 CA120239522 COSM592956 |
258 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA120239521 rs865852563 |
259 | G>R | No |
ClinGen TOPMed |
|
|
CA359953706 rs1380997484 |
260 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1212825456 CA359953702 |
261 | R>G | No |
ClinGen Ensembl |
|
|
rs761353761 CA3280845 |
262 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1442155788 CA359953676 |
264 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 264 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561279065 CA359953664 |
266 | G>D | No |
ClinGen Ensembl |
|
|
CA3280844 rs34158987 |
267 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120239520 rs34158987 COSM738411 |
267 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1426563131 CA359953655 COSM738412 |
268 | E>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 268 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 268 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759986249 CA359953645 |
269 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3280841 rs777222317 |
269 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs759986249 CA3280842 |
269 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3280840 rs771552839 |
272 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280836 RCV000960854 VAR_011830 rs1800042 |
273 | G>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3280838 rs138074971 |
273 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3280837 rs1800042 |
273 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3280835 rs373988348 |
274 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372264021 CA3280834 |
275 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359953594 rs1413743244 |
278 | N>S | No |
ClinGen TOPMed |
|
|
rs1293191104 CA359953590 |
279 | G>S | No |
ClinGen gnomAD |
|
|
CA359953581 rs1357859963 |
280 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359953569 rs1361540968 |
282 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359953560 rs1287317501 |
283 | Q>P | No |
ClinGen gnomAD |
|
|
CA359953557 rs1406918237 |
284 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs149284354 CA3280828 CA3280829 |
285 | D>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1164192846 CA359953551 |
285 | D>N | No |
ClinGen gnomAD |
|
|
rs199635945 CA359953539 |
286 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359953544 rs1366606163 |
286 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359953543 rs1366606163 |
286 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1191018744 CA359953528 |
288 | A>D | No |
ClinGen gnomAD |
|
|
CA359953529 rs1260684033 |
288 | A>S | No |
ClinGen gnomAD |
|
|
CA359953531 rs1260684033 |
288 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359953526 rs1191018744 |
288 | A>V | No |
ClinGen gnomAD |
|
|
CA359953525 rs1561279015 |
289 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA120239517 rs957870350 |
291 | E>K | No |
ClinGen Ensembl |
|
|
CA359953502 rs1579954035 |
292 | V>G | No |
ClinGen Ensembl |
|
|
rs761065498 CA3280822 |
294 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280820 rs772003513 |
295 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA359953478 rs1561279004 |
296 | H>P | No |
ClinGen Ensembl |
|
|
rs925000687 CA120239516 |
296 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3280819 rs761956170 |
297 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359953473 rs866709542 |
297 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866709542 CA120239515 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs774496102 CA3280818 |
298 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120239514 rs201332668 |
300 | N>D | No |
ClinGen gnomAD |
|
|
CA3280817 rs150096239 |
300 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3280816 rs150096239 |
300 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150096239 CA359953458 |
300 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367954876 CA3280815 |
301 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA120239513 rs866342116 |
303 | E>K | No |
ClinGen TOPMed |
|
|
CA359953442 rs866342116 |
303 | E>Q | No |
ClinGen TOPMed |
|
|
rs769656650 CA3280814 |
304 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs960290206 CA120239512 COSM3828272 |
304 | H>Y | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3280812 rs202228609 |
306 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745757475 CA3280813 |
306 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745757475 CA359953422 |
306 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202886495 CA359953405 |
309 | S>C | No |
ClinGen gnomAD |
|
|
rs140681943 COSM482949 CA3280811 |
309 | S>R | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 310 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3828271 rs751102953 CA3280810 |
310 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359953400 rs751102953 |
310 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280809 rs777494279 |
311 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256589065 CA359953379 |
313 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359953378 rs1256589065 |
313 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758093561 CA3280808 |
314 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs932850974 CA120239509 |
314 | T>P | No |
ClinGen Ensembl |
|
|
CA3280807 rs766800783 |
315 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766800783 CA3280806 |
315 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA120239508 rs899324898 |
315 | P>S | No |
ClinGen gnomAD |
|
|
rs1261288982 CA359953367 |
316 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3280804 rs756532927 |
317 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3280803 rs750826326 |
317 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1391915766 CA359953354 |
318 | P>S | No |
ClinGen gnomAD |
|
|
CA359953348 rs1395635564 |
319 | A>S | No |
ClinGen gnomAD |
|
|
CA120239507 rs200094518 |
320 | S>A | No |
ClinGen Ensembl |
|
|
CA120239506 rs1037914652 |
320 | S>F | No |
ClinGen TOPMed |
|
|
rs1470798298 CA359953336 |
321 | F>S | No |
ClinGen gnomAD |
|
|
CA359953331 rs1205693779 |
322 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 323 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767072546 CA120239505 |
323 | R>S | No |
ClinGen Ensembl |
|
|
rs768080641 CA3280802 |
324 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs768080641 CA359953318 |
324 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762281720 CA3280801 |
325 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1365009552 CA359953304 |
326 | E>K | No |
ClinGen gnomAD |
|
|
CA120239503 rs200770355 |
328 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs886552793 CA120239501 |
329 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs763135676 CA3280798 |
330 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1236815465 CA359953277 |
330 | E>Q | No |
ClinGen gnomAD |
|
|
rs775724917 CA3280797 |
331 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280796 rs769413533 |
332 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3280795 rs745690816 |
333 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1264580658 CA359953257 |
333 | R>S | No |
ClinGen TOPMed |
|
|
rs181835946 CA3280794 |
334 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3280792 rs200535872 |
335 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1306968077 CA359953229 |
337 | L>Q | No |
ClinGen gnomAD |
|
|
rs1454434636 CA359953228 |
338 | A>T | No |
ClinGen gnomAD |
|
|
rs777400546 CA3280791 |
339 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3280789 rs747762187 |
341 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3280790 rs747762187 |
341 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 343 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1254489 rs756374179 CA3280787 |
346 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 350 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280786 rs750784546 |
356 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA359953022 rs1242941126 |
360 | P>L | No |
ClinGen gnomAD |
|
|
rs767833915 CA3280785 |
361 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3280784 rs201890227 |
363 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA359952999 rs1262622336 |
363 | I>T | No |
ClinGen gnomAD |
|
|
CA359953003 rs201890227 |
363 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764122815 CA359952995 |
364 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3280782 rs764122815 |
364 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA120239497 rs867446127 |
365 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3280780 rs775635014 |
367 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA359952954 rs1360006268 |
368 | L>V | No |
ClinGen gnomAD |
|
|
rs765486347 CA3280779 |
369 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3280778 rs759745068 |
370 | F>C | No |
ClinGen ExAC |
|
|
rs1445456280 CA359952899 |
372 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs200892437 COSM1637644 CA120239496 |
373 | S>N | bone [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA359952889 rs1291866075 |
373 | S>R | No |
ClinGen TOPMed |
|
|
CA359952886 rs1327848498 |
374 | S>G | No |
ClinGen gnomAD |
|
|
rs199708804 CA120239495 |
374 | S>T | No |
ClinGen Ensembl |
|
|
rs1318556302 CA359952833 |
378 | P>S | No |
ClinGen gnomAD |
|
|
rs776458272 CA3280777 |
379 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3280775 rs746894232 |
382 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 383 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359952765 rs1385081541 |
384 | I>R | No |
ClinGen gnomAD |
|
|
CA359952744 rs1476586438 |
386 | N>S | No |
ClinGen gnomAD |
|
|
CA359952748 rs1339053959 |
386 | N>Y | No |
ClinGen TOPMed |
|
|
CA3280773 rs771640828 |
387 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3280772 rs747672805 |
389 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778344352 CA3280771 |
390 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1404586951 CA359952689 |
391 | S>F | No |
ClinGen gnomAD |
|
|
CA359952688 rs1579953784 |
392 | N>H | No |
ClinGen Ensembl |
|
|
CA359952682 rs1271172204 |
392 | N>S | No |
ClinGen gnomAD |
|
|
rs921728780 CA120239493 |
393 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1288985628 CA359952650 |
395 | L>P | No |
ClinGen gnomAD |
|
|
CA3280770 rs754651969 |
397 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120239491 rs200512649 |
397 | P>S | No |
ClinGen Ensembl |
|
|
CA120239490 rs1032828064 |
398 | V>F | No |
ClinGen TOPMed |
|
|
CA359952586 rs1270454037 |
401 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA359952587 rs1270454037 |
401 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1217657912 CA359952531 |
408 | Q>E | No |
ClinGen gnomAD |
|
|
CA359952528 rs1337905645 |
408 | Q>R | No |
ClinGen gnomAD |
|
|
rs781594054 CA3280768 |
410 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA120239489 rs199776808 |
410 | A>S | No |
ClinGen Ensembl |
|
|
rs752001226 CA3280766 |
413 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1561278835 CA359952484 |
414 | I>T | No |
ClinGen Ensembl |
|
|
COSM1210105 CA3280763 rs758965208 |
418 | K>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3280762 rs752821044 |
420 | C>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with P08908
[MIM: 614674]: Periodic fever, menstrual cycle-dependent (PFMC)
A condition characterized by recurrent fevers up to 40 degrees Celsius associated with the luteal phase of the menstrual cycle. Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. {ECO:0000269|PubMed:21990073}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A condition characterized by recurrent fevers up to 40 degrees Celsius associated with the luteal phase of the menstrual cycle. Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. {ECO:0000269|PubMed:21990073}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P08908
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 53 - 400 | IPR017452 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled serotonin receptor activity | Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| receptor-receptor interaction | The aggregation, arrangement and bonding together of two or more different receptor complexes that individually undergo combination with a hormone, neurotransmitter, drug or intracellular messenger to form a higher level receptor complex. The formation of the higher level complex initiates a change in cell function. |
| serotonin binding | Binding to serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-inhibiting serotonin receptor signaling pathway | An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by serotonin binding to its receptor, and ending with the regulation of a downstream cellular process. |
| behavioral fear response | An acute behavioral change resulting from a perceived external threat. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| exploration behavior | The specific behavior of an organism in response to a novel environment or 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. |
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide. |
| gamma-aminobutyric acid signaling pathway | The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to its receptor on the surface of a target cell. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| regulation of behavior | Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. |
| regulation of dopamine metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving dopamine. |
| regulation of hormone secretion | Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. |
| regulation of serotonin secretion | Any process that modulates the frequency, rate or extent of the regulated release of serotonin. |
| regulation of vasoconstriction | Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels. |
| serotonin metabolic process | The chemical reactions and pathways involving serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. |
| serotonin receptor signaling pathway | The series of molecular signals generated as a consequence of a serotonin receptor binding to one of its physiological ligands. |
127 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2YDN1 | GPR161 | G protein-coupled receptor 161 | Bos taurus (Bovine) | PR |
| Q0GBZ5 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Bos taurus (Bovine) | PR |
| Q17QD8 | GPR37L1 | G-protein coupled receptor 37-like 1 | Bos taurus (Bovine) | PR |
| Q8SPN1 | PROKR2 | Prokineticin receptor 2 | Bos taurus (Bovine) | PR |
| P46626 | ADRB3 | Beta-3 adrenergic receptor | Bos taurus (Bovine) | PR |
| O46639 | TRHR | Thyrotropin-releasing hormone receptor | Bos taurus (Bovine) | PR |
| Q8SPN2 | PROKR1 | Prokineticin receptor 1 | Bos taurus (Bovine) | PR |
| B9VR26 | CMLKR1 | Chemerin-like receptor 1 | Bos taurus (Bovine) | PR |
| P18130 | ADRA1A | Alpha-1A adrenergic receptor | Bos taurus (Bovine) | PR |
| B4XF06 | GPR39 | G-protein coupled receptor 39 | Bos taurus (Bovine) | PR |
| O18913 | OPN1LW | Long-wave-sensitive opsin 1 | Felis catus (Cat) (Felis silvestris catus) | PR |
| P28683 | PRA1 | Green-sensitive opsin | Gallus gallus (Chicken) | PR |
| Q9N298 | HTR1A | 5-hydroxytryptamine receptor 1A | Pan troglodytes (Chimpanzee) | PR |
| Q6XXX9 | HTR1A | 5-hydroxytryptamine receptor 1A | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P08099 | Rh2 | Opsin Rh2 | Drosophila melanogaster (Fruit fly) | PR |
| P06002 | ninaE | Opsin Rh1 | Drosophila melanogaster (Fruit fly) | PR |
| Q4LBB9 | Octbeta2R | Octopamine receptor beta-2R | Drosophila melanogaster (Fruit fly) | PR |
| Q0EAB6 | HTR1A | 5-hydroxytryptamine receptor 1A | Equus caballus (Horse) | PR |
| Q8NFJ6 | PROKR2 | Prokineticin receptor 2 | Homo sapiens (Human) | PR |
| Q13585 | GPR50 | Melatonin-related receptor | Homo sapiens (Human) | PR |
| Q9BZJ6 | GPR63 | Probable G-protein coupled receptor 63 | Homo sapiens (Human) | PR |
| P28336 | NMBR | Neuromedin-B receptor | Homo sapiens (Human) | PR |
| Q9Y5Y3 | GPR45 | Probable G-protein coupled receptor 45 | Homo sapiens (Human) | PR |
| P08913 | ADRA2A | Alpha-2A adrenergic receptor | Homo sapiens (Human) | PR |
| P41597 | CCR2 | C-C chemokine receptor type 2 | Homo sapiens (Human) | PR |
| P51681 | CCR5 | C-C chemokine receptor type 5 | Homo sapiens (Human) | PR |
| Q8TCW9 | PROKR1 | Prokineticin receptor 1 | Homo sapiens (Human) | PR |
| Q99788 | CMKLR1 | Chemerin-like receptor 1 | Homo sapiens (Human) | PR |
| P30559 | OXTR | Oxytocin receptor | Homo sapiens (Human) | PR |
| P32239 | CCKBR | Gastrin/cholecystokinin type B receptor | Homo sapiens (Human) | PR |
| O60883 | GPR37L1 | G-protein coupled receptor 37-like 1 | Homo sapiens (Human) | PR |
| Q8TDU9 | RXFP4 | Relaxin-3 receptor 2 | Homo sapiens (Human) | PR |
| P04000 | OPN1LW | Long-wave-sensitive opsin 1 | Homo sapiens (Human) | PR |
| Q6U736 | OPN5 | Opsin-5 | Homo sapiens (Human) | PR |
| P34972 | CNR2 | Cannabinoid receptor 2 | Homo sapiens (Human) | PR |
| P24530 | EDNRB | Endothelin receptor type B | Homo sapiens (Human) | PR |
| P35348 | ADRA1A | Alpha-1A adrenergic receptor | Homo sapiens (Human) | PR |
| Q6W5P4 | NPSR1 | Neuropeptide S receptor | Homo sapiens (Human) | PR |
| O43613 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Homo sapiens (Human) | PR |
| P61073 | CXCR4 | C-X-C chemokine receptor type 4 | Homo sapiens (Human) | PR |
| Q9BXC0 | HCAR1 | Hydroxycarboxylic acid receptor 1 | Homo sapiens (Human) | PR |
| P30556 | AGTR1 | Type-1 angiotensin II receptor | Homo sapiens (Human) | PR |
| Q15761 | NPY5R | Neuropeptide Y receptor type 5 | Homo sapiens (Human) | PR |
| Q8N6U8 | GPR161 | G-protein coupled receptor 161 | Homo sapiens (Human) | PR |
| Q6DWJ6 | GPR139 | Probable G-protein coupled receptor 139 | Homo sapiens (Human) | PR |
| P21462 | FPR1 | fMet-Leu-Phe receptor | Homo sapiens (Human) | PR |
| P35414 | APLNR | Apelin receptor | Homo sapiens (Human) | PR |
| P46091 | CMKLR2 | Chemerin-like receptor 2 | Homo sapiens (Human) | PR |
| P32745 | SSTR3 | Somatostatin receptor type 3 | Homo sapiens (Human) | PR |
| P41439 | FOLR3 | Folate receptor gamma | Homo sapiens (Human) | PR |
| Q9H3N8 | HRH4 | Histamine H4 receptor | Homo sapiens (Human) | PR |
| P08173 | CHRM4 | Muscarinic acetylcholine receptor M4 | Homo sapiens (Human) | PR |
| P11229 | CHRM1 | Muscarinic acetylcholine receptor M1 | Homo sapiens (Human) | PR |
| P08912 | CHRM5 | Muscarinic acetylcholine receptor M5 | Homo sapiens (Human) | PR |
| P08172 | CHRM2 | Muscarinic acetylcholine receptor M2 | Homo sapiens (Human) | PR |
| P20309 | CHRM3 | Muscarinic acetylcholine receptor M3 | Homo sapiens (Human) | PR |
| P35367 | HRH1 | Histamine H1 receptor | Homo sapiens (Human) | PR |
| P19973 | Lsp1 | Lymphocyte-specific protein 1 | Mus musculus (Mouse) | PR |
| O54799 | Nmbr | Neuromedin-B receptor | Mus musculus (Mouse) | PR |
| P51675 | Ccr1 | C-C chemokine receptor type 1 | Mus musculus (Mouse) | PR |
| Q5U431 | Gpr39 | G-protein coupled receptor 39 | Mus musculus (Mouse) | PR |
| Q99JG2 | Gpr37l1 | G-protein coupled receptor 37-like 1 | Mus musculus (Mouse) | PR |
| P97295 | Npy2r | Neuropeptide Y receptor type 2 | Mus musculus (Mouse) | PR |
| O08786 | Cckar | Cholecystokinin receptor type A | Mus musculus (Mouse) | PR |
| P56481 | Cckbr | Gastrin/cholecystokinin type B receptor | Mus musculus (Mouse) | PR |
| P30731 | Gpr83 | G-protein coupled receptor 83 | Mus musculus (Mouse) | PR |
| P97468 | Cmklr1 | Chemerin-like receptor 1 | Mus musculus (Mouse) | PR |
| P21761 | Trhr | Thyrotropin-releasing hormone receptor | Mus musculus (Mouse) | PR |
| Q5QD16 | Taar3 | Trace amine-associated receptor 3 | Mus musculus (Mouse) | PR |
| P97292 | Hrh2 | Histamine H2 receptor | Mus musculus (Mouse) | PR |
| Q9EQQ3 | Gpr63 | Probable G-protein coupled receptor 63 | Mus musculus (Mouse) | PR |
| Q924H0 | Npffr2 | Neuropeptide FF receptor 2 | Mus musculus (Mouse) | PR |
| P34971 | Adrb1 | Beta-1 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q91ZY2 | Hrh4 | Histamine H4 receptor | Mus musculus (Mouse) | PR |
| O88416 | Gpr33 | Probable G-protein coupled receptor 33 | Mus musculus (Mouse) | PR |
| Q8K087 | Cmklr2 | Chemerin-like receptor 2 | Mus musculus (Mouse) | PR |
| P70658 | Cxcr4 | C-X-C chemokine receptor type 4 | Mus musculus (Mouse) | PR |
| Q9WV08 | Aplnr | Apelin receptor | Mus musculus (Mouse) | PR |
| P97718 | Adra1a | Alpha-1A adrenergic receptor | Mus musculus (Mouse) | PR |
| Q8BZP8 | Npsr1 | Neuropeptide S receptor | Mus musculus (Mouse) | PR |
| Q8K458 | Prokr2 | Prokineticin receptor 2 | Mus musculus (Mouse) | PR |
| P58308 | Hcrtr2 | Orexin receptor type 2 | Mus musculus (Mouse) | PR |
| Q7TQP3 | Gpr119 | Glucose-dependent insulinotropic receptor | Mus musculus (Mouse) | PR |
| Q8BGE9 | Rxfp3 | Relaxin-3 receptor 1 | Mus musculus (Mouse) | PR |
| Q6VZZ7 | Opn5 | Opsin-5 | Mus musculus (Mouse) | PR |
| Q8CIM5 | Gpr84 | G-protein coupled receptor 84 | Mus musculus (Mouse) | PR |
| P25962 | Adrb3 | Beta-3 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q80UC8 | Gpr139 | Probable G-protein coupled receptor 139 | Mus musculus (Mouse) | PR |
| P0C5I1 | Gpr25 | Probable G-protein coupled receptor 25 | Mus musculus (Mouse) | PR |
| P47936 | Cnr2 | Cannabinoid receptor 2 | Mus musculus (Mouse) | PR |
| Q5QD13 | Taar6 | Trace amine-associated receptor 6 | Mus musculus (Mouse) | PR |
| P35846 | Folr1 | Folate receptor alpha | Mus musculus (Mouse) | PR |
| P58307 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Mus musculus (Mouse) | PR |
| Q8C131 | Hcar1 | Hydroxycarboxylic acid receptor 1 | Mus musculus (Mouse) | PR |
| Q9EQQ4 | Gpr45 | Probable G-protein coupled receptor 45 | Mus musculus (Mouse) | PR |
| B2RPY5 | Gpr161 | G-protein coupled receptor 161 | Mus musculus (Mouse) | PR |
| Q64264 | Htr1a | 5-hydroxytryptamine receptor 1A | Mus musculus (Mouse) | PR |
| Q764M9 | CXCR4 | C-X-C chemokine receptor type 4 | Sus scrofa (Pig) | PR |
| Q9EQD2 | Npffr2 | Neuropeptide FF receptor 2 | Rattus norvegicus (Rat) | PR |
| O08565 | Cxcr4 | C-X-C chemokine receptor type 4 | Rattus norvegicus (Rat) | PR |
| Q01717 | Trhr | Thyrotropin-releasing hormone receptor | Rattus norvegicus (Rat) | PR |
| P30936 | Sstr3 | Somatostatin receptor type 3 | Rattus norvegicus (Rat) | PR |
| Q9JHG3 | Aplnr | Apelin receptor | Rattus norvegicus (Rat) | PR |
| P43140 | Adra1a | Alpha-1A adrenergic receptor | Rattus norvegicus (Rat) | PR |
| P56719 | Hcrtr2 | Orexin receptor type 2 | Rattus norvegicus (Rat) | PR |
| P28564 | Htr1b | 5-hydroxytryptamine receptor 1B | Rattus norvegicus (Rat) | PR |
| P56718 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Rattus norvegicus (Rat) | PR |
| P28647 | Adora3 | Adenosine receptor A3 | Rattus norvegicus (Rat) | PR |
| P25102 | Hrh2 | Histamine H2 receptor | Rattus norvegicus (Rat) | PR |
| P23944 | Adra1d | Alpha-1D adrenergic receptor | Rattus norvegicus (Rat) | PR |
| Q8R415 | Prokr2 | Prokineticin receptor 2 | Rattus norvegicus (Rat) | PR |
| Q5QD24 | Taar3 | Trace amine-associated receptor 3 | Rattus norvegicus (Rat) | PR |
| P0C0W8 | Gpr139 | Probable G-protein coupled receptor 139 | Rattus norvegicus (Rat) | PR |
| P35370 | Oprl1 | Nociceptin receptor | Rattus norvegicus (Rat) | PR |
| P46090 | Cmklr2 | Chemerin-like receptor 2 | Rattus norvegicus (Rat) | PR |
| P19327 | Htr1a | 5-hydroxytryptamine receptor 1A | Rattus norvegicus (Rat) | PR |
| O97664 | CMKLR2 | Chemerin-like receptor 2 | Macaca mulatta (Rhesus macaque) | PR |
| O97666 | APLNR | Apelin receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q56H79 | NPSR1 | Neuropeptide S receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q18904 | npr-8 | Probable G-protein coupled receptor npr-8 | Caenorhabditis elegans | PR |
| Q09388 | gar-2 | Muscarinic acetylcholine receptor gar-2 | Caenorhabditis elegans | PR |
| B3DM66 | gpr161 | G-protein coupled receptor 161 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q9W6A6 | opn1mw4 | Green-sensitive opsin-4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q9W6A5 | opn1mw1 | Green-sensitive opsin-1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYM7 | opn1mw3 | Green-sensitive opsin-3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYN0 | opn1lw2 | Red-sensitive opsin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q90X46 | gpr161 | G-protein coupled receptor 161 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVLSPGQGN | NTTSPPAPFE | TGGNTTGISD | VTVSYQVITS | LLLGTLIFCA | VLGNACVVAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IALERSLQNV | ANYLIGSLAV | TDLMVSVLVL | PMAALYQVLN | KWTLGQVTCD | LFIALDVLCC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TSSILHLCAI | ALDRYWAITD | PIDYVNKRTP | RRAAALISLT | WLIGFLISIP | PMLGWRTPED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RSDPDACTIS | KDHGYTIYST | FGAFYIPLLL | MLVLYGRIFR | AARFRIRKTV | KKVEKTGADT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RHGASPAPQP | KKSVNGESGS | RNWRLGVESK | AGGALCANGA | VRQGDDGAAL | EVIEVHRVGN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SKEHLPLPSE | AGPTPCAPAS | FERKNERNAE | AKRKMALARE | RKTVKTLGII | MGTFILCWLP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FFIVALVLPF | CESSCHMPTL | LGAIINWLGY | SNSLLNPVIY | AYFNKDFQNA | FKKIIKCKFC |
| RQ |