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 Q9Y5Y3

Entry ID Method Resolution Chain Position Source
AF-Q9Y5Y3-F1 Predicted AlphaFoldDB

315 variants for Q9Y5Y3

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 4 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748665162
CA1813501
5 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs748665162
CA348099154
5 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA1813503
rs770837246
COSM287190
6 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770837246
CA1813502
6 T>R No ClinGen
ExAC
TOPMed
gnomAD
VAR_035759 7 S>C a breast cancer sample; somatic mutation [UniProt] No UniProt
rs1558799266
CA348099172
8 L>P No ClinGen
Ensembl
CA348099178
rs1413055660
9 E>G No ClinGen
TOPMed
gnomAD
CA348099175
rs1336356971
9 E>Q No ClinGen
gnomAD
CA348099193
rs1161155014
11 Y>F No ClinGen
gnomAD
rs372207201
CA1813505
13 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs980110985
CA53397746
14 L>P No ClinGen
TOPMed
CA348099210
rs141939363
14 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348099232
rs1330055390
18 T>A No ClinGen
TOPMed
CA348099252
rs1230597460
20 N>K No ClinGen
gnomAD
CA348099253
COSM1527023
rs1289396618
21 A>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA1813509
rs145079238
21 A>V No ClinGen
ESP
ExAC
TOPMed
rs550462737
CA1813510
22 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766721869
CA1813511
24 S>L No ClinGen
ExAC
gnomAD
rs1302425649
CA348099293
27 T>I No ClinGen
TOPMed
CA1813514
rs765340371
28 Q>P No ClinGen
ExAC
gnomAD
rs1184025734
CA348099313
30 P>R No ClinGen
TOPMed
gnomAD
rs746939000
CA1813518
COSM1004747
31 A>S endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1813519
rs746939000
31 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA53397792
rs983351931
32 P>S No ClinGen
TOPMed
rs907774333
CA53397793
33 L>F No ClinGen
TOPMed
rs1157198306
CA348099337
35 I>V No ClinGen
gnomAD
CA1813520
COSM168370
rs781291024
36 S>F large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348099344
rs1472417397
36 S>P No ClinGen
gnomAD
CA1813521
rs781291024
36 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1357883445
CA348099356
38 A>S No ClinGen
gnomAD
CA348099364
rs1432481721
39 I>T No ClinGen
TOPMed
CA1813523
rs139229733
40 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA53397827
rs144600528
41 M>I No ClinGen
ESP
rs1190555389
CA348099376
41 M>T No ClinGen
TOPMed
CA53397850
rs766673600
46 V>A No ClinGen
TOPMed
rs768136880
CA1813525
46 V>M No ClinGen
ExAC
gnomAD
CA348099411
rs1346737783
47 V>G No ClinGen
gnomAD
CA53397852
rs931707200
47 V>M No ClinGen
TOPMed
CA348099417
rs1256915190
48 G>E No ClinGen
TOPMed
CA348099414
rs1573513153
48 G>R No ClinGen
Ensembl
rs773914555
CA1813526
49 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA1813530
rs759792071
55 V>A No ClinGen
ExAC
gnomAD
rs1402740332
CA348099482
58 I>T No ClinGen
gnomAD
rs370523818
CA1813532
59 V>A No ClinGen
ESP
ExAC
gnomAD
CA1813533
rs763334033
62 R>K No ClinGen
ExAC
gnomAD
CA53397911
rs903481209
63 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs533753702
CA1813537
66 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1813536
rs533753702
66 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1813535
rs201195065
66 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA1813539
rs755839753
67 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA348099556
rs1573513229
70 N>T No ClinGen
Ensembl
CA348099564
rs1326008989
71 L>P No ClinGen
gnomAD
rs1273667461
CA348099576
74 A>T No ClinGen
gnomAD
CA348099587
rs1465391003
75 T>N No ClinGen
TOPMed
rs1573513243
CA348099582
75 T>P No ClinGen
Ensembl
CA1813543
rs189330575
77 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 82 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1170471026
CA348099628
82 M>V No ClinGen
TOPMed
CA1813544
rs747620860
84 S>C No ClinGen
ExAC
gnomAD
CA348099642
rs1315419788
84 S>P No ClinGen
gnomAD
TCGA novel 86 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348099663
rs1291802702
87 C>Y No ClinGen
gnomAD
CA1813546
rs776984771
88 M>V No ClinGen
ExAC
gnomAD
rs1573513267
CA348099690
91 T>P No ClinGen
Ensembl
rs1356756765
CA348099694
91 T>S No ClinGen
TOPMed
gnomAD
rs1189342876
CA348099708
94 T>P No ClinGen
gnomAD
CA348099710
rs1189342876
94 T>S No ClinGen
gnomAD
CA348099737
rs1165326711
98 V>A No ClinGen
TOPMed
gnomAD
CA348099733
rs1460940995
98 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs763424464
CA1813550
99 R>C No ClinGen
ExAC
gnomAD
rs763424464
CA1813551
99 R>G No ClinGen
ExAC
gnomAD
CA1813552
rs200554082
COSM1527021
99 R>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348099749
rs1322464207
100 W>* No ClinGen
TOPMed
gnomAD
rs1322464207
CA348099748
COSM387062
100 W>C lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs61734870
CA53397987
104 D>E No ClinGen
TOPMed
gnomAD
rs1296169376
CA348099790
106 F>V No ClinGen
TOPMed
CA348099803
rs1341866530
107 C>* No ClinGen
TOPMed
CA348099798
rs1224676889
107 C>G No ClinGen
TOPMed
rs1573513314
CA348099800
107 C>S No ClinGen
Ensembl
rs199769227
CA1813553
108 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs140418322
CA1813554
109 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1813555
rs750312491
112 T>R No ClinGen
ExAC
gnomAD
CA348099834
rs1285677959
113 L>H No ClinGen
gnomAD
CA53398010
rs112707014
115 W>* No ClinGen
Ensembl
CA1813559
rs371040711
118 V>A No ClinGen
ESP
ExAC
gnomAD
CA348099899
rs1573513345
123 A>P No ClinGen
Ensembl
rs1190201165
CA348099906
124 I>V No ClinGen
gnomAD
rs1369611602
CA348099912
125 L>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1163283261
CA348099919
126 L>H No ClinGen
gnomAD
rs1028077098
CA53398024
126 L>V No ClinGen
TOPMed
gnomAD
CA53398030
rs554225455
127 I>V No ClinGen
1000Genomes
gnomAD
CA53398036
rs952111482
131 D>G No ClinGen
TOPMed
gnomAD
CA348099983
rs1473855544
132 R>C No ClinGen
TOPMed
rs757834636
CA1813563
132 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA348099989
rs757834636
132 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA348099982
rs1473855544
132 R>S No ClinGen
TOPMed
rs777411177
CA1813564
135 I>N No ClinGen
ExAC
gnomAD
rs746506937
CA1813565
136 I>T No ClinGen
ExAC
gnomAD
CA348100041
rs1331441448
137 V>A No ClinGen
gnomAD
rs572247634
CA1813567
137 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs769181230
CA1813569
138 Q>P No ClinGen
ExAC
gnomAD
rs774691771
CA53398057
139 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1813570
rs774691771
139 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs762181882
CA1813571
140 Q>H No ClinGen
ExAC
gnomAD
CA1813572
rs767487900
141 D>G No ClinGen
ExAC
gnomAD
CA348100105
rs1183378009
143 L>V No ClinGen
TOPMed
rs766303852
COSM714903
CA1813575
145 P>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 145 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765078347
CA1813578
146 R>C No ClinGen
ExAC
gnomAD
CA348100143
COSM261164
rs1483000559
146 R>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs758004590
CA1813580
147 R>G No ClinGen
ExAC
gnomAD
CA348100168
rs1271548205
149 K>E No ClinGen
TOPMed
CA53398121
rs145118947
150 V>L No ClinGen
ESP
ExAC
gnomAD
rs145118947
CA1813581
150 V>M No ClinGen
ESP
ExAC
gnomAD
rs200821166
CA1813583
153 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138940615
CA1813584
153 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749859640
CA1813585
154 V>D No ClinGen
ExAC
gnomAD
CA348100216
rs1558799474
154 V>L No ClinGen
Ensembl
CA53398129
rs921747850
156 W>C No ClinGen
TOPMed
rs1265531128
CA348100226
156 W>R No ClinGen
TOPMed
rs769126007
CA1813586
157 V>L No ClinGen
ExAC
gnomAD
CA1813587
rs774918861
159 S>A No ClinGen
ExAC
gnomAD
rs1553454422
CA1813588
159 S>Y No ClinGen
Ensembl
CA1813590
rs145670700
161 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141953039
CA348100316
163 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141953039
CA348100313
163 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1004748
CA1813592
rs141953039
163 A>T endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348100327
rs1558799486
163 A>V No ClinGen
Ensembl
CA1813594
rs766423256
164 G>R No ClinGen
ExAC
gnomAD
CA1813596
rs759537674
165 P>L No ClinGen
ExAC
gnomAD
rs943742352
CA53398167
166 S>* No ClinGen
TOPMed
gnomAD
CA53398169
rs943742352
166 S>L No ClinGen
TOPMed
gnomAD
TCGA novel 166 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1813597
rs765164320
168 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA348100371
rs765164320
168 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA53398181
rs765164320
168 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA348100381
rs1171673709
169 G>D No ClinGen
gnomAD
CA1813600
COSM3713354
rs562662336
171 T>M upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA348100428
rs1162769242
172 L>P No ClinGen
TOPMed
rs754389608
CA1813604
174 E>K No ClinGen
ExAC
gnomAD
CA53398199
rs902149476
175 V>M No ClinGen
TOPMed
CA348100469
rs374437830
176 P>L No ClinGen
ESP
ExAC
gnomAD
rs374437830
CA53398203
176 P>Q No ClinGen
ESP
ExAC
gnomAD
rs374437830
CA1813605
176 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA1813607
rs752768882
177 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA1813606
rs779573167
177 A>P No ClinGen
ExAC
gnomAD
CA53398206
rs752768882
177 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 179 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348100489
rs757225198
179 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1813608
rs757225198
COSM1669188
179 A>T ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA348100495
rs1479429541
180 P>S No ClinGen
gnomAD
rs368662446
CA1813609
181 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348100534
rs747257210
CA1813610
183 V>L No ClinGen
ExAC
gnomAD
CA1813611
rs770997380
184 L>P No ClinGen
ExAC
gnomAD
rs370457497
CA53398235
185 G>A No ClinGen
ESP
TOPMed
gnomAD
rs1450013500
CA348100549
185 G>C No ClinGen
gnomAD
rs140456971
CA53398239
187 T>A No ClinGen
ESP
TOPMed
CA1813612
rs151145166
187 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140456971
CA348100565
187 T>P No ClinGen
ESP
TOPMed
rs751210465
CA1813618
191 A>P No ClinGen
ExAC
gnomAD
CA348100624
rs751210465
191 A>S No ClinGen
ExAC
gnomAD
rs970662249
CA53398291
194 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs761439391
CA1813619
194 A>V No ClinGen
ExAC
gnomAD
CA1813621
rs749892636
196 V>L No ClinGen
ExAC
gnomAD
CA348100686
rs1265654433
197 V>I No ClinGen
gnomAD
CA348100716
rs1279824133
199 L>F No ClinGen
gnomAD
CA53398318
rs1014935138
200 V>A No ClinGen
gnomAD
CA1813623
rs779534228
202 A>V No ClinGen
ExAC
gnomAD
CA53398327
rs560190604
203 V>L No ClinGen
1000Genomes
gnomAD
CA348100744
rs560190604
203 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
CA1813624
rs527336507
206 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1813625
rs758780573
206 A>V No ClinGen
ExAC
gnomAD
rs1322590252
CA348100796
207 P>T No ClinGen
gnomAD
CA53398351
rs962014378
209 G>C No ClinGen
TOPMed
gnomAD
CA348100822
rs1277558189
209 G>D No ClinGen
TOPMed
CA1813628
rs771083431
210 V>G No ClinGen
ExAC
gnomAD
COSM2981120
CA1813627
rs747405939
210 V>I pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1229194789
CA348100868
213 C>W No ClinGen
TOPMed
gnomAD
rs202232782
CA1813629
214 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1438851473
CA348100882
215 Y>H No ClinGen
TOPMed
CA1813630
rs745910123
216 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA348100927
rs1231098574
218 I>T No ClinGen
gnomAD
rs769899916
CA1813631
219 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA53398378
rs975934405
221 T>A No ClinGen
TOPMed
gnomAD
rs775474130
CA348100961
COSM387063
221 T>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs775474130
CA1813632
221 T>R No ClinGen
ExAC
gnomAD
rs1182162078
CA348100975
COSM3938446
223 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1256576888
CA348100976
223 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1256576888
CA348100978
223 R>L No ClinGen
TOPMed
gnomAD
rs1256576888
CA348100977
223 R>P No ClinGen
TOPMed
gnomAD
rs200019068
CA1813634
225 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773946510
CA1813635
226 A>T No ClinGen
ExAC
gnomAD
CA1813637
rs767227335
227 V>E No ClinGen
ExAC
gnomAD
rs1400185024
CA348101000
227 V>L No ClinGen
gnomAD
rs750129453
CA1813638
228 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA348101007
rs1449445706
228 R>P No ClinGen
gnomAD
rs201940295
CA348101021
230 H>Q No ClinGen
1000Genomes
TOPMed
gnomAD
CA348101037
rs1446096457
232 Q>H No ClinGen
TOPMed
rs1412111352
CA348101031
232 Q>K No ClinGen
gnomAD
rs1289831207
CA348101034
232 Q>P No ClinGen
gnomAD
rs1289831207
CA348101035
232 Q>R No ClinGen
gnomAD
rs1573513703
CA348101039
233 S>T No ClinGen
Ensembl
CA1813639
rs760243757
233 S>W No ClinGen
ExAC
gnomAD
rs1313840998
CA348101052
235 S>R No ClinGen
gnomAD
CA1813641
rs753248193
236 L>Q No ClinGen
ExAC
gnomAD
CA348101079
rs1484547932
239 R>Q No ClinGen
TOPMed
gnomAD
CA348101083
rs1232159036
240 Q>E No ClinGen
TOPMed
CA1813643
rs764676645
243 R>S No ClinGen
ExAC
gnomAD
rs376184501
CA348101111
244 A>E No ClinGen
ESP
TOPMed
gnomAD
CA53398424
rs376184501
244 A>V No ClinGen
ESP
TOPMed
gnomAD
CA1813644
rs751822459
245 G>S No ClinGen
ExAC
gnomAD
CA53398451
rs143245552
247 R>Q No ClinGen
ESP
TOPMed
COSM569184
CA1813645
rs757651651
247 R>W lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA348101128
rs1173529372
248 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA53398460
COSM1398580
rs369449960
248 R>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
rs369449960
CA348101130
248 R>L No ClinGen
ESP
TOPMed
rs201182325
CA1813647
249 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs746136645
CA1813648
250 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA348101142
rs112504064
251 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348101143
rs780064917
251 R>L No ClinGen
ExAC
gnomAD
CA1813650
rs780064917
251 R>Q No ClinGen
ExAC
gnomAD
rs112504064
CA1813649
251 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348101167
rs143732878
254 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1573513780
CA348101172
255 V>G No ClinGen
Ensembl
CA348101169
rs1277213574
255 V>I No ClinGen
gnomAD
rs1451883726
CA348101178
256 S>N No ClinGen
TOPMed
CA53398492
rs934984070
257 V>L No ClinGen
TOPMed
gnomAD
rs934984070
CA348101183
257 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA348101194
rs768416385
258 D>E No ClinGen
ExAC
gnomAD
rs774366129
CA1813653
259 L>S No ClinGen
ExAC
gnomAD
CA348101211
rs1474863348
261 F>V No ClinGen
TOPMed
rs111311547
CA53398498
262 K>R No ClinGen
Ensembl
CA1813654
rs747909232
263 T>I No ClinGen
ExAC
gnomAD
rs1211963159
CA348101234
264 K>R No ClinGen
TOPMed
CA1813655
rs772045210
271 I>F No ClinGen
ExAC
gnomAD
rs772988591
CA1813656
271 I>T No ClinGen
ExAC
gnomAD
CA1813657
rs760474889
273 F>S No ClinGen
ExAC
gnomAD
rs1442842968
CA348101296
274 V>L No ClinGen
TOPMed
CA53398513
rs937515441
277 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA53398518
rs138866799
278 L>I No ClinGen
ESP
gnomAD
rs539216616
CA1813659
279 C>S No ClinGen
1000Genomes
ExAC
gnomAD
CA348101334
rs1396253161
COSM3364193
280 W>* kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
CA348101352
rs1371546648
283 H>D No ClinGen
gnomAD
rs1573513867
CA348101354
283 H>P No ClinGen
Ensembl
CA348101358
rs1226567213
COSM714900
283 H>Q lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1813660
rs759108867
286 Y>C No ClinGen
ExAC
gnomAD
CA348101372
rs1573513878
286 Y>H No ClinGen
Ensembl
CA1813662
rs752102168
287 S>N No ClinGen
ExAC
gnomAD
rs1573513882
CA348101378
287 S>R No ClinGen
Ensembl
rs757594370
CA1813663
290 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA1813664
rs767926021
292 F>I No ClinGen
ExAC
gnomAD
rs1230552552
CA348101425
294 Q>P No ClinGen
gnomAD
rs1447888691
CA348101432
295 R>C No ClinGen
TOPMed
gnomAD
rs750639584
CA1813665
COSM200377
295 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1447888691
CA348101430
295 R>S No ClinGen
TOPMed
gnomAD
CA348101435
rs1286243828
296 F>I No ClinGen
TOPMed
TCGA novel 297 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375629461
CA348101458
298 C>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780333283
CA53398549
299 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780333283
CA1813667
299 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1371766892
CA348101462
299 G>V No ClinGen
TOPMed
rs1213074882
CA348101476
302 F>I No ClinGen
gnomAD
rs1251250626
CA348101484
303 Y>H No ClinGen
gnomAD
rs1005354962
CA53398550
304 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1813669
rs755114729
305 T>N No ClinGen
ExAC
gnomAD
COSM171693
CA53398556
rs1014931172
309 V>I Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA1813671
VAR_049394
rs35946826
312 L>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs773078857
CA1813673
319 F>L No ClinGen
ExAC
gnomAD
CA1813675
rs746818166
COSM381473
320 N>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1813676
rs776377304
321 P>S No ClinGen
ExAC
gnomAD
CA1813678
rs953279063
322 I>L No ClinGen
TOPMed
rs758939694
CA1813680
322 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1285738675
CA348101613
323 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA348101625
rs1232922107
324 Y>* No ClinGen
gnomAD
CA1813682
rs774823465
324 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs774823465
CA348101623
324 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1271558791
CA348101626
325 C>S No ClinGen
TOPMed
gnomAD
rs762373048
CA1813683
325 C>Y No ClinGen
ExAC
gnomAD
CA1813684
rs372741548
326 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1813685
rs750727237
328 I>N No ClinGen
ExAC
gnomAD
rs1258687311
CA348101673
331 F>Y No ClinGen
gnomAD
CA1813686
rs761119993
COSM1398584
332 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348101680
rs1352198171
COSM148920
332 R>H Variant assessed as Somatic; impact. central_nervous_system stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs766468335
CA348101683
333 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1813687
rs766468335
333 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1813689
rs755001691
334 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs754127381
CA1813688
334 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA348101693
rs755001691
334 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1449293820
CA348101703
336 I>V No ClinGen
gnomAD
TCGA novel 337 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752832419
CA1813691
COSM1613251
340 P>L liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA1813692
rs201875537
342 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA53398666
rs200226637
345 I>T No ClinGen
TOPMed
TCGA novel 349 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1352620324
CA348101797
350 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA53398672
rs1003479730
350 P>S No ClinGen
Ensembl
rs746761296
CA1813694
352 R>G No ClinGen
ExAC
gnomAD
CA1813695
rs770801979
352 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA348101815
rs1202684999
353 I>T No ClinGen
TOPMed
gnomAD
CA53398686
rs751905324
354 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1281720099
CA348101826
355 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 357 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780688429
CA1813696
361 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA348101874
rs1254889885
362 V>A No ClinGen
gnomAD
CA348101885
rs377185135
364 V>L No ClinGen
ESP
ExAC
gnomAD
COSM1004750
rs377185135
CA1813698
364 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs1451056384
CA348101898
366 N>D No ClinGen
gnomAD
rs267598823
CA53398696
367 E>K No ClinGen
Ensembl
CA348101920
rs1376066935
369 Q>K No ClinGen
gnomAD
CA348101929
rs1433849643
370 S>P No ClinGen
TOPMed
gnomAD
rs1433849643
CA348101928
370 S>T No ClinGen
TOPMed
gnomAD
CA1813700
rs762463206
371 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs879189805
CA53398737
373 V>L No ClinGen
Ensembl
rs1393176319
CA348101951
373 V>Y No ClinGen
gnomAD

No associated diseases with Q9Y5Y3

1 regional properties for Q9Y5Y3

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 43 - 285 IPR017452

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
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 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.

1 GO annotations of biological process

Name Definition
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.

119 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
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
Q8NFJ6 PROKR2 Prokineticin receptor 2 Homo sapiens (Human) PR
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor 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
P08908 HTR1A 5-hydroxytryptamine receptor 1A 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
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
P19973 Lsp1 Lymphocyte-specific protein 1 Mus musculus (Mouse) PR
O54799 Nmbr Neuromedin-B receptor Mus musculus (Mouse) PR
Q64264 Htr1a 5-hydroxytryptamine receptor 1A 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
B2RPY5 Gpr161 G-protein coupled receptor 161 Mus musculus (Mouse) PR
Q9EQQ4 Gpr45 Probable G-protein coupled receptor 45 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
P19327 Htr1a 5-hydroxytryptamine receptor 1A 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
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
MACNSTSLEA YTYLLLNTSN ASDSGSTQLP APLRISLAIV MLLMTVVGFL GNTVVCIIVY
70 80 90 100 110 120
QRPAMRSAIN LLLATLAFSD IMLSLCCMPF TAVTLITVRW HFGDHFCRLS ATLYWFFVLE
130 140 150 160 170 180
GVAILLIISV DRFLIIVQRQ DKLNPRRAKV IIAVSWVLSF CIAGPSLTGW TLVEVPARAP
190 200 210 220 230 240
QCVLGYTELP ADRAYVVTLV VAVFFAPFGV MLCAYMCILN TVRKNAVRVH NQSDSLDLRQ
250 260 270 280 290 300
LTRAGLRRLQ RQQQVSVDLS FKTKAFTTIL ILFVGFSLCW LPHSVYSLLS VFSQRFYCGS
310 320 330 340 350 360
SFYATSTCVL WLSYLKSVFN PIVYCWRIKK FREACIELLP QTFQILPKVP ERIRRRIQPS
370
TVYVCNENQS AV