Q9Y5Y4
Gene name |
PTGDR2 (CRTH2, DL1R, GPR44) |
Protein name |
Prostaglandin D2 receptor 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11251 |
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
4 structures for Q9Y5Y4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6D26 | X-ray | 280 A | A | 1-339 | PDB |
| 6D27 | X-ray | 274 A | A | 1-339 | PDB |
| 7M8W | X-ray | 261 A | A | 1-339 | PDB |
| AF-Q9Y5Y4-F1 | Predicted | AlphaFoldDB |
378 variants for Q9Y5Y4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA222808428 rs899422732 |
3 | A>D | No |
ClinGen Ensembl |
|
|
rs868723708 CA222808430 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs749693737 CA6027127 |
4 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756531361 CA6027125 |
5 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1331228556 CA380619563 |
5 | A>T | No |
ClinGen gnomAD |
|
|
CA380619556 rs756531361 |
5 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1443887935 CA380619543 |
6 | T>I | No |
ClinGen gnomAD |
|
|
CA380619513 rs1331888448 |
9 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6027123 rs779367187 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA380619464 rs1404978305 |
13 | I>V | No |
ClinGen TOPMed |
|
|
rs1478468727 CA380619445 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA380619442 rs1176877818 |
15 | E>K | No |
ClinGen gnomAD |
|
|
rs1439098402 CA380619425 |
16 | Q>E | No |
ClinGen gnomAD |
|
|
rs1439098402 CA380619423 |
16 | Q>K | No |
ClinGen gnomAD |
|
|
CA380619401 rs1239319568 |
17 | M>T | No |
ClinGen gnomAD |
|
|
rs1311971460 CA380619385 |
18 | S>N | No |
ClinGen TOPMed |
|
|
CA6027121 rs140107997 |
19 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380619361 rs1590579585 |
20 | L>P | No |
ClinGen Ensembl |
|
|
CA380619352 rs1441103287 |
21 | Q>* | No |
ClinGen gnomAD |
|
|
CA6027119 rs757092179 |
24 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA380619266 rs1345318629 |
26 | T>I | No |
ClinGen gnomAD |
|
|
rs1590579567 CA380619274 |
26 | T>P | No |
ClinGen Ensembl |
|
|
rs1305113045 CA380619242 |
28 | I>N | No |
ClinGen gnomAD |
|
|
CA6027118 rs763977880 |
29 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs974931539 CA222808409 |
29 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380619225 rs974931539 |
29 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6027117 rs763977880 |
29 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs760460958 CA6027116 |
30 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333292970 CA380619180 |
32 | D>G | No |
ClinGen gnomAD |
|
|
CA380619187 rs1338537653 |
32 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380619185 rs1338537653 |
32 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA380619170 rs1377512340 |
33 | H>N | No |
ClinGen gnomAD |
|
|
CA380619168 rs1377512340 |
33 | H>Y | No |
ClinGen gnomAD |
|
|
rs759678740 CA6027114 |
34 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6027113 rs759678740 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380619129 rs1472077936 |
36 | V>L | No |
ClinGen gnomAD |
|
|
rs1472077936 CA380619133 |
36 | V>M | No |
ClinGen gnomAD |
|
|
rs1444433077 CA380619108 |
38 | L>P | No |
ClinGen gnomAD |
|
|
rs1188709002 CA380619112 |
38 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA380619085 rs1214002175 |
40 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
rs1378201761 CA380619072 |
41 | L>V | No |
ClinGen TOPMed |
|
|
CA6027110 rs749549015 |
42 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA222808397 rs749549015 |
42 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6027108 rs770201396 |
44 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA380618980 rs1296644438 |
49 | E>* | No |
ClinGen gnomAD |
|
|
CA380618974 rs1399606590 |
49 | E>D | No |
ClinGen gnomAD |
|
|
CA380618932 rs1361294052 |
53 | I>V | No |
ClinGen gnomAD |
|
|
rs1020410142 CA222808380 |
54 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA380618882 rs1164278891 |
56 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1164278891 CA380618884 |
56 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6027103 rs757981361 |
58 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6027104 rs781753851 |
58 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1191130297 CA380618834 |
59 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA222808364 rs942533419 |
60 | R>C | No |
ClinGen TOPMed |
|
|
rs145143849 CA380618816 |
60 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145143849 CA6027102 |
60 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380618800 CA380618798 rs1263389045 |
61 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6027101 rs756927031 |
62 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs373319775 CA6027099 |
62 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6027100 rs756927031 |
62 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs989408283 CA222808353 |
65 | V>M | No |
ClinGen gnomAD |
|
|
CA380618749 rs1276033280 |
66 | V>I | No |
ClinGen gnomAD |
|
|
CA6027094 rs201972295 |
70 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1324851093 CA380618664 |
71 | L>M | No |
ClinGen gnomAD |
|
|
CA6027092 rs150731729 |
72 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590579336 CA380618643 |
72 | H>P | No |
ClinGen Ensembl |
|
|
CA222808346 rs886432557 |
72 | H>Q | No |
ClinGen TOPMed |
|
|
rs150731729 CA380618646 |
72 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs556535305 CA6027089 |
74 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773499365 CA6027090 |
74 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs556535305 CA222808337 |
74 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA222808331 rs1023425447 |
77 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1222265973 CA380618575 |
77 | D>N | No |
ClinGen gnomAD |
|
|
rs1318251339 CA380618522 |
80 | A>V | No |
ClinGen gnomAD |
|
|
CA380618503 rs1298088096 |
81 | S>F | No |
ClinGen gnomAD |
|
|
rs777269301 CA6027087 |
82 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380618463 rs1275484342 |
84 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1275484342 CA380618465 |
84 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1331179942 CA380618448 |
85 | P>L | No |
ClinGen gnomAD |
|
|
rs536997157 CA6027086 |
85 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA222808322 rs991379420 |
86 | F>L | No |
ClinGen Ensembl |
|
|
CA380618400 rs1356626307 |
88 | T>I | No |
ClinGen gnomAD |
|
|
CA380618389 rs1393363442 |
89 | Y>H | No |
ClinGen TOPMed |
|
|
rs868760358 CA222808321 |
92 | A>D | No |
ClinGen gnomAD |
|
|
rs868760358 CA380618324 |
92 | A>V | No |
ClinGen gnomAD |
|
|
rs1193741895 CA380618318 |
93 | V>M | No |
ClinGen gnomAD |
|
|
rs1236293106 CA380618285 |
95 | H>Y | No |
ClinGen gnomAD |
|
|
CA380618257 rs1177929656 |
96 | S>L | No |
ClinGen gnomAD |
|
|
rs1208337071 CA380618217 |
98 | E>D | No |
ClinGen gnomAD |
|
|
rs1252834706 CA380618232 |
98 | E>K | No |
ClinGen gnomAD |
|
|
rs1311864237 CA380618164 |
102 | T>I | No |
ClinGen gnomAD |
|
|
CA380618172 rs1590579209 |
102 | T>P | No |
ClinGen Ensembl |
|
|
CA6027083 rs567746955 |
104 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1448138536 CA380618095 |
106 | L>P | No |
ClinGen gnomAD |
|
|
CA222808310 rs1016441688 |
107 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 113 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6027081 rs777522390 |
114 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA380617990 CA6027080 rs755857823 |
115 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436105635 CA380617974 |
117 | A>T | No |
ClinGen gnomAD |
|
|
CA6027078 rs780977793 |
119 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380617943 rs1267415201 |
121 | L>R | No |
ClinGen TOPMed |
|
|
CA380617940 rs1482775174 |
122 | L>F | No |
ClinGen gnomAD |
|
|
CA222808296 rs950681359 |
122 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1030738989 CA222808293 |
124 | A>T | No |
ClinGen gnomAD |
|
|
rs1565098380 CA380617921 |
125 | I>N | No |
ClinGen Ensembl |
|
|
rs1285373730 CA380617923 |
125 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA380617906 rs1311123631 |
127 | L>P | No |
ClinGen gnomAD |
|
|
CA380617908 rs1319286138 |
127 | L>V | No |
ClinGen gnomAD |
|
|
CA380617901 rs1590579125 |
128 | D>A | No |
ClinGen Ensembl |
|
|
rs766394399 CA6027076 |
129 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6027075 rs766394399 |
129 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA380617888 rs1313183771 |
130 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380617885 rs1416207905 |
130 | C>W | No |
ClinGen gnomAD |
|
|
CA380617889 rs1313183771 |
130 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA222808288 rs997564963 |
131 | L>P | No |
ClinGen Ensembl |
|
|
rs1187809995 CA380617880 |
132 | Q>K | No |
ClinGen TOPMed |
|
|
rs1259013577 CA380617876 |
132 | Q>R | No |
ClinGen TOPMed |
|
|
rs901904459 CA222808283 |
134 | V>A | No |
ClinGen TOPMed |
|
|
rs180805093 CA6027072 |
134 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs571378284 CA6027068 |
135 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571378284 CA6027069 |
135 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777073027 CA6027070 |
135 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6027067 rs148279533 |
136 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487444524 CA380617855 |
137 | V>M | No |
ClinGen gnomAD |
|
|
CA380617840 rs1565098345 |
139 | A>T | No |
ClinGen Ensembl |
|
|
rs777277288 CA6027064 |
143 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6027063 rs531558021 |
143 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1244693162 CA380617801 |
144 | T>I | No |
ClinGen gnomAD |
|
|
CA222808267 rs945653182 |
145 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 145 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380617787 rs1338001903 |
147 | A>T | No |
ClinGen gnomAD |
|
|
CA6027059 rs370596613 |
147 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs56067229 CA6027058 |
148 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291758942 CA380617773 |
149 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1290727204 CA380617775 |
149 | H>R | No |
ClinGen TOPMed |
|
|
RCV000971057 rs542817355 |
150 | K>missing | No |
ClinVar dbSNP |
|
|
CA6027055 rs750463480 |
151 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380617759 rs750463480 |
151 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380617761 rs1485268895 |
151 | V>I | No |
ClinGen TOPMed |
|
|
rs142523235 CA6027054 |
152 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6027052 rs754138332 |
155 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6027050 rs761163934 |
159 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA380617711 rs1430445362 |
159 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6027048 rs376767392 |
160 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380617699 rs1275550027 |
162 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380617694 rs1197146216 |
162 | N>S | No |
ClinGen gnomAD |
|
|
CA380617682 rs1565098277 |
164 | V>A | No |
ClinGen Ensembl |
|
|
rs777347417 CA6027044 |
167 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6027046 rs772710890 |
167 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6027042 rs768406482 |
169 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA380617644 rs1565098258 |
170 | R>Q | No |
ClinGen Ensembl |
|
|
CA380617645 rs1298591078 |
170 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1452144922 CA380617637 |
171 | D>G | No |
ClinGen TOPMed |
|
|
rs1439471564 CA380617641 |
171 | D>Y | No |
ClinGen gnomAD |
|
|
rs1395134306 CA380617632 |
172 | T>A | No |
ClinGen gnomAD |
|
|
CA380617628 rs1327769075 |
172 | T>I | No |
ClinGen gnomAD |
|
|
CA222808255 rs769718905 |
174 | S>A | No |
ClinGen Ensembl |
|
|
CA380617618 rs1310206144 |
174 | S>W | No |
ClinGen TOPMed |
|
|
CA6027041 rs746868690 |
175 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463700031 CA380617605 |
177 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1376083041 CA380617596 |
178 | G>R | No |
ClinGen gnomAD |
|
|
CA380617592 rs560069216 |
179 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA222808254 rs560069216 |
179 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560069216 CA6027040 |
179 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758293056 CA6027039 |
181 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6027038 rs745827224 |
182 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540395712 CA6027037 |
182 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA599793430 rs1438630116 |
183 | Y>* | No |
ClinGen gnomAD |
|
|
rs757463710 CA6027036 |
183 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374186483 CA6027035 |
183 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6027034 rs764479126 |
184 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886376440 CA222808253 |
185 | N>K | No |
ClinGen TOPMed |
|
|
CA6027033 rs756534607 |
185 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs916305901 CA222808252 |
186 | V>A | No |
ClinGen gnomAD |
|
|
CA6027032 rs753053259 |
187 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1334999027 CA380617522 |
188 | L>P | No |
ClinGen gnomAD |
|
|
CA380617510 rs1407964527 |
189 | L>P | No |
ClinGen TOPMed |
|
|
CA380617489 rs760047266 CA6027030 |
190 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411406615 CA380617493 |
190 | N>S | No |
ClinGen gnomAD |
|
|
rs774740653 CA6027029 |
191 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774740653 CA380617473 |
191 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173182171 CA380617479 |
191 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761350678 CA6027027 |
192 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1439650279 CA380617443 |
193 | P>H | No |
ClinGen gnomAD |
|
|
CA380617424 rs1233928252 |
194 | D>E | No |
ClinGen gnomAD |
|
|
CA380617414 rs1184436768 |
195 | R>C | No |
ClinGen gnomAD |
|
|
rs1440994969 CA380617411 |
195 | R>H | No |
ClinGen gnomAD |
|
|
CA380617402 rs1253714262 |
196 | D>N | No |
ClinGen gnomAD |
|
|
CA6027026 rs371086118 |
198 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768351350 CA6027025 |
199 | C>G | No |
ClinGen ExAC |
|
|
rs1281813783 CA380617351 |
199 | C>Y | No |
ClinGen gnomAD |
|
|
CA380617337 rs746672454 |
200 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746672454 CA6027024 |
200 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444204137 CA380617307 |
201 | S>L | No |
ClinGen TOPMed |
|
|
rs775318917 CA6027023 |
202 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380617292 rs1444122926 |
203 | Q>* | No |
ClinGen gnomAD |
|
|
CA6027020 rs2467642 VAR_063131 |
204 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2467642 CA380617271 |
204 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6027021 rs745798810 |
204 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1296459878 CA380617269 |
205 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749437828 CA6027018 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1222315528 CA380617256 |
207 | A>G | No |
ClinGen TOPMed |
|
|
CA6027012 rs755345035 |
208 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1308877342 CA380617248 |
209 | S>R | No |
ClinGen TOPMed |
|
|
rs1213827593 CA380617232 |
211 | F>I | No |
ClinGen gnomAD |
|
|
CA380617217 rs1267311587 |
213 | L>R | No |
ClinGen TOPMed |
|
|
CA380617197 rs1225386546 |
216 | L>P | No |
ClinGen gnomAD |
|
|
CA380617184 rs1421994075 |
218 | P>L | No |
ClinGen TOPMed |
|
|
CA6027010 rs766860087 |
219 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761295583 CA6027009 |
221 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA380617160 rs1430177739 |
223 | A>T | No |
ClinGen gnomAD |
|
|
rs753283471 CA6027008 |
225 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166139910 CA380617129 |
227 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 227 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380617125 rs1419586482 |
228 | A>S | No |
ClinGen gnomAD |
|
|
CA380617120 rs763629755 |
229 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6027007 rs763629755 |
229 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565098107 CA380617116 |
230 | S>R | No |
ClinGen Ensembl |
|
|
CA6027006 rs760275552 |
232 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1217253964 CA380617090 |
234 | Q>* | No |
ClinGen gnomAD |
|
|
rs1449827211 CA380617088 |
234 | Q>R | No |
ClinGen gnomAD |
|
|
CA222808243 rs945630948 |
235 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6027005 rs775057256 |
236 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771871405 CA6027004 |
236 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1276617126 CA380617072 |
237 | G>R | No |
ClinGen gnomAD |
|
|
rs1276617126 CA380617073 |
237 | G>S | No |
ClinGen gnomAD |
|
|
CA380617062 rs1362808311 |
238 | R>H | No |
ClinGen gnomAD |
|
|
CA380617067 rs1214175493 |
238 | R>S | No |
ClinGen gnomAD |
|
|
CA380617059 rs774333725 |
239 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1208718 CA6027002 rs774333725 |
239 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA222808242 rs914134006 |
240 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1434343794 CA380617056 |
240 | R>W | No |
ClinGen gnomAD |
|
|
CA6027001 rs770935570 |
242 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6027000 rs749242968 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA380617041 rs749242968 |
243 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA380617040 rs1290306509 |
243 | R>H | No |
ClinGen TOPMed |
|
|
CA6026999 rs770014924 |
246 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6026998 rs770014924 |
246 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA380617015 rs1409036697 |
247 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380617012 rs1470677791 |
248 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA380616994 rs1590578493 |
251 | V>A | No |
ClinGen Ensembl |
|
|
CA6026996 rs781308596 |
251 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs755364144 CA6026995 |
254 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA222808230 rs979811922 |
255 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1255896071 CA380616695 |
256 | A>T | No |
ClinGen gnomAD |
|
|
rs970239250 CA222808228 |
256 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1275297676 CA380616675 |
257 | L>P | No |
ClinGen gnomAD |
|
|
CA380616681 rs1308332947 |
257 | L>V | No |
ClinGen gnomAD |
|
|
rs1283427410 CA380616672 |
258 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380616646 rs1217558920 |
259 | W>* | No |
ClinGen gnomAD |
|
|
rs1224137156 CA380616649 |
259 | W>S | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758867069 CA6026992 |
264 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380616583 rs758867069 |
264 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985005190 CA380616522 |
268 | L>P | No |
ClinGen TOPMed |
|
|
rs985005190 CA222808221 |
268 | L>R | No |
ClinGen TOPMed |
|
|
rs1443303307 CA380616487 |
271 | R>G | No |
ClinGen gnomAD |
|
|
CA380616481 rs575311239 |
271 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380616483 rs575311239 |
271 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575311239 CA6026990 |
271 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565098020 CA380616474 |
272 | A>E | No |
ClinGen Ensembl |
|
|
CA380616476 rs1590578403 |
272 | A>S | No |
ClinGen Ensembl |
|
|
rs1393922316 CA380616452 |
274 | A>T | No |
ClinGen gnomAD |
|
|
CA6026988 rs760146329 |
275 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763575164 CA380616432 |
275 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6026989 rs763575164 |
275 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA380616415 rs1248276867 |
276 | P>L | No |
ClinGen gnomAD |
|
|
rs1234869101 CA380616405 |
277 | G>E | No |
ClinGen gnomAD |
|
|
CA380616412 rs1480802580 |
277 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6026986 rs767136063 |
279 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1281097090 CA380616374 |
280 | P>L | No |
ClinGen gnomAD |
|
|
RCV000923710 CA380616366 rs1236541796 |
281 | L>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs773952294 CA6026984 |
283 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA380616338 rs1352162656 |
283 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1446644693 CA380616326 |
284 | R>C | No |
ClinGen TOPMed |
|
|
CA222808209 rs966032658 |
284 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1382548962 CA380616318 |
285 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770880210 CA6026983 |
286 | L>M | No |
ClinGen ExAC |
|
|
rs1444878399 CA380616292 |
287 | P>L | No |
ClinGen Ensembl |
|
|
rs762934437 CA6026981 |
288 | F>L | No |
ClinGen ExAC TOPMed |
|
|
CA380616274 rs1299567960 |
289 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1299567960 CA380616272 |
289 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1312990492 CA380616221 |
293 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1435967594 COSM397949 CA380616209 |
294 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA380616203 rs1362006501 |
294 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769961680 CA380616155 |
297 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6026979 rs769961680 |
297 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748240414 CA6026978 |
298 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA222808199 rs1017653624 |
298 | V>M | No |
ClinGen TOPMed |
|
|
CA222808196 rs867031959 |
299 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6026977 rs776896074 |
299 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380616107 rs1258413807 |
301 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA380616105 rs1258413807 |
301 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380616109 rs1258413807 |
301 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1216395493 CA380616088 |
302 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1216395493 CA380616086 |
302 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1260724622 CA380616071 |
304 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA222808191 rs768698494 |
305 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6026976 rs768698494 |
305 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747256636 CA6026975 |
306 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6026974 rs41459145 |
308 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293465766 CA380615988 |
310 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA222808183 rs12807053 |
310 | D>G | No |
ClinGen Ensembl |
|
|
rs1157529005 CA380616000 |
310 | D>N | No |
ClinGen TOPMed |
|
|
rs12807051 CA222808181 |
311 | M>L | No |
ClinGen gnomAD |
|
|
CA380615984 rs12807051 |
311 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6026972 rs371953294 |
313 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA222808176 rs779466222 |
314 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA222808174 rs892644625 |
315 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs755638586 CA380615916 |
316 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs755638586 CA6026970 |
316 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA380615920 rs1302867940 |
316 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6026969 rs368130260 |
317 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6026968 rs767058222 |
317 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334551229 CA380615900 |
318 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 320 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325774893 CA380615858 |
321 | T>M | No |
ClinGen TOPMed |
|
|
CA380615855 rs1190331332 |
322 | V>M | No |
ClinGen gnomAD |
|
|
CA222808168 rs939638183 |
324 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 324 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6026966 rs751278829 |
325 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181398425 CA380615793 |
326 | V>G | No |
ClinGen TOPMed |
|
|
rs1044475989 CA222808162 |
326 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762879192 CA6026964 |
327 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380615786 rs1481134746 |
327 | L>P | No |
ClinGen TOPMed |
|
|
rs1401107499 CA380615775 |
328 | V>A | No |
ClinGen gnomAD |
|
|
rs1428238084 CA380615754 |
329 | D>E | No |
ClinGen TOPMed |
|
|
CA380615750 rs1335893919 |
330 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1335893919 CA380615748 |
330 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs773277258 CA380615718 |
332 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs773277258 CA6026963 |
332 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1169243737 CA380615706 |
333 | L>M | No |
ClinGen TOPMed |
|
|
rs1246490105 CA380615702 |
333 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1246490105 CA380615701 |
333 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs983635490 CA380615690 |
334 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs983635490 CA222808156 |
334 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1294257752 CA380615654 |
337 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA222808152 rs984564590 |
337 | G>R | No |
ClinGen TOPMed |
|
|
rs765142335 CA6026962 |
339 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380615634 rs1249791017 |
339 | S>R | No |
ClinGen TOPMed |
|
|
rs1030605096 CA222808148 |
340 | R>C | No |
ClinGen Ensembl |
|
|
CA6026961 rs761821276 |
340 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776503511 CA6026960 |
341 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776503511 CA222808145 |
341 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6026959 rs374184117 |
342 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380615624 rs1394906734 |
342 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6026958 rs747181485 |
343 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs747181485 CA380615618 |
343 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs571515921 CA6026954 |
346 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380615568 rs1193552946 |
349 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA222808144 rs1011668064 |
352 | S>P | No |
ClinGen TOPMed |
|
|
CA380615520 rs1194385684 |
353 | P>T | No |
ClinGen gnomAD |
|
|
CA222808142 rs1017599685 |
354 | L>S | No |
ClinGen TOPMed |
|
|
CA222808140 rs1007949943 |
355 | A>G | No |
ClinGen TOPMed |
|
|
rs753507290 CA222808141 |
355 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA380615483 rs1227594925 |
356 | L>F | No |
ClinGen gnomAD |
|
|
rs1383938130 CA380615433 |
360 | P>A | No |
ClinGen TOPMed |
|
|
rs1293712891 CA380615413 |
361 | E>G | No |
ClinGen TOPMed |
|
|
CA380615382 rs1440054560 |
363 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380615364 rs1590577870 |
365 | G>S | No |
ClinGen Ensembl |
|
|
rs780518762 CA6026949 |
368 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1396056866 CA380615322 |
368 | R>L | No |
ClinGen gnomAD |
|
|
CA222808135 rs1009657951 |
371 | G>D | No |
ClinGen TOPMed |
|
|
CA6026948 rs754566001 |
371 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751223841 CA6026947 |
373 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751223841 CA380615265 |
373 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA222808131 rs1003730997 |
384 | G>D | No |
ClinGen TOPMed |
|
|
CA380615124 rs1590577787 |
387 | N>I | No |
ClinGen Ensembl |
|
|
CA380615123 rs1164709984 |
387 | N>K | No |
ClinGen TOPMed |
|
|
CA380615121 rs1046341416 |
388 | R>G | No |
ClinGen gnomAD |
|
|
CA222808128 rs1046341416 |
388 | R>W | No |
ClinGen gnomAD |
|
|
CA222808125 rs199514968 |
392 | S>R | No |
ClinGen gnomAD |
|
|
CA380615088 rs1287180867 |
393 | T>I | No |
ClinGen TOPMed |
|
|
rs1249466813 CA380615082 |
394 | S>* | No |
ClinGen gnomAD |
|
|
CA222808123 rs949045758 |
395 | S>T | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9Y5Y4
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled receptor activity | Combining with an extracellular signal 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. |
| neuropeptide binding | Interacting selectively and non-covalently and stoichiometrically with neuropeptides, peptides with direct synaptic effects (peptide neurotransmitters) or indirect modulatory effects on the nervous system (peptide neuromodulators). |
| peptide binding | Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. |
| prostaglandin D receptor activity | Combining with prostaglandin D (PGD(2)) to initiate a change in cell activity. |
| prostaglandin F receptor activity | Combining with prostaglandin F (PGF (2-alpha)) to initiate a change in cell activity. |
| prostaglandin J receptor activity | Combining with prostaglandin J (PGJ(2)), a metabolite of prostaglandin D (PGD(2)) to initiate a change in cell activity. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP). |
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| chemotaxis | The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| 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. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| negative regulation of male germ cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of male germ cell proliferation. |
| neuropeptide signaling pathway | A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| positive regulation of G protein-coupled receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of G protein-coupled receptor signaling pathway activity. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSANATLKPL | CPILEQMSRL | QSHSNTSIRY | IDHAAVLLHG | LASLLGLVEN | GVILFVVGCR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MRQTVVTTWV | LHLALSDLLA | SASLPFFTYF | LAVGHSWELG | TTFCKLHSSI | FFLNMFASGF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLSAISLDRC | LQVVRPVWAQ | NHRTVAAAHK | VCLVLWALAV | LNTVPYFVFR | DTISRLDGRI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MCYYNVLLLN | PGPDRDATCN | SRQVALAVSK | FLLAFLVPLA | IIASSHAAVS | LRLQHRGRRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGRFVRLVAA | VVAAFALCWG | PYHVFSLLEA | RAHANPGLRP | LVWRGLPFVT | SLAFFNSVAN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVLYVLTCPD | MLRKLRRSLR | TVLESVLVDD | SELGGAGSSR | RRRTSSTARS | ASPLALCSRP |
| 370 | 380 | 390 | |||
| EEPRGPARLL | GWLLGSCAAS | PQTGPLNRAL | SSTSS |