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

5 structures for Q6DWJ6

Entry ID Method Resolution Chain Position Source
7VUG EM 320 A R 2-321 PDB
7VUH EM 322 A R 2-321 PDB
7VUI EM 330 A R 2-321 PDB
7VUJ EM 380 A R 2-321 PDB
AF-Q6DWJ6-F1 Predicted AlphaFoldDB

268 variants for Q6DWJ6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA7938422
rs756461493
2 E>K No ClinGen
ExAC
gnomAD
CA7938421
rs373852028
3 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1162476
rs781371656
CA7938420
4 T>M Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA395241777
rs1323835049
5 H>Q No ClinGen
gnomAD
TCGA novel 5 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395241773
rs1316148314
6 A>S No ClinGen
gnomAD
rs1032517369
CA279353799
8 L>F No ClinGen
TOPMed
CA7938418
rs753981536
9 A>V No ClinGen
ExAC
gnomAD
CA7938417
rs766414100
10 A>G No ClinGen
ExAC
gnomAD
rs1296624501
CA395241745
11 N>D No ClinGen
gnomAD
rs1460296053
CA395241735
12 S>I No ClinGen
gnomAD
rs1163977589
CA395241722
14 L>P No ClinGen
gnomAD
CA395241708
rs1443996024
16 W>L No ClinGen
TOPMed
gnomAD
rs1383243009
CA395241687
19 P>A Variant assessed as Somatic; 4.802e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395241683
rs1419112630
20 G>S No ClinGen
gnomAD
CA7938415
rs753759452
21 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA395241674
rs753759452
21 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs775328176
CA7938412
22 A>D No ClinGen
ExAC
gnomAD
rs775328176
CA395241668
22 A>V No ClinGen
ExAC
gnomAD
CA7938410
rs759200829
24 G>D No ClinGen
ExAC
gnomAD
rs773750094
CA7938409
29 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1596473373
CA395241619
30 V>G No ClinGen
Ensembl
rs1335194838
CA395241620
30 V>L No ClinGen
gnomAD
CA395241613
rs1388812927
31 V>A No ClinGen
gnomAD
rs777664660
CA395241615
31 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA395241612
rs1388812927
31 V>G No ClinGen
gnomAD
rs777664660
CA7938407
31 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1270041405
CA395241589
34 S>R No ClinGen
TOPMed
CA395241587
rs1346374230
35 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7938406
rs376264932
36 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs949786082
CA279353765
39 L>F No ClinGen
TOPMed
gnomAD
CA395241512
rs1461790339
43 A>G No ClinGen
gnomAD
rs781461709
CA7938403
43 A>S No ClinGen
ExAC
gnomAD
TCGA novel 44 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395241510
rs1449456374
44 N>Y No ClinGen
TOPMed
rs747226563
CA7938380
45 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1596463016
CA395241485
47 T>I No ClinGen
Ensembl
rs1271769549
CA395241480
48 V>A No ClinGen
gnomAD
CA395241476
rs1596463013
49 I>F No ClinGen
Ensembl
rs1227813348
CA395241462
51 L>F No ClinGen
gnomAD
rs141495504
CA395241445
53 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395241438
rs1463614016
55 V>M No ClinGen
gnomAD
rs1316083998
CA395241427
57 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7938375
rs756136132
57 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA395241393
rs1596462997
61 S>F No ClinGen
Ensembl
CA395241366
rs1421128326
65 Y>C No ClinGen
gnomAD
CA395241365
rs1421128326
65 Y>F No ClinGen
gnomAD
CA7938373
rs767455957
66 L>F No ClinGen
ExAC
gnomAD
CA279332299
rs914959837
68 A>T No ClinGen
TOPMed
CA279332296
rs769475571
70 A>T No ClinGen
Ensembl
CA279332290
rs1000112063
COSM244761
71 A>V prostate [Cosmic] No ClinGen
cosmic curated
Ensembl
CA279332288
rs759247227
74 I>L No ClinGen
gnomAD
CA7938369
rs762439043
74 I>M No ClinGen
ExAC
gnomAD
rs759247227
CA395241315
74 I>V No ClinGen
gnomAD
TCGA novel 76 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395241301
rs1266629567
76 V>I No ClinGen
TOPMed
TCGA novel 78 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1464793851
CA395241275
80 I>L No ClinGen
TOPMed
CA279332257
rs895582965
80 I>M No ClinGen
TOPMed
rs1014304157
CA279332260
80 I>T No ClinGen
Ensembl
rs369158552
CA7938367
82 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762328410
CA7938366
83 V>L No ClinGen
ExAC
gnomAD
CA7938365
rs777082356
84 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1295098832
CA395241241
85 F>S No ClinGen
gnomAD
rs761075198
CA7938362
88 E>V No ClinGen
ExAC
CA7938361
rs376132502
89 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395241190
rs1313754000
92 L>F No ClinGen
gnomAD
rs772331191
CA7938360
93 N>T No ClinGen
ExAC
gnomAD
CA7938359
rs746022625
94 M>I No ClinGen
ExAC
gnomAD
rs1329060702
CA395241182
94 M>L No ClinGen
gnomAD
rs1394836405
CA395241173
95 Q>E No ClinGen
gnomAD
rs143074187
CA7938358
95 Q>R No ClinGen
ESP
ExAC
CA279332201
rs941617485
96 M>T No ClinGen
TOPMed
gnomAD
CA395241166
rs1165860928
96 M>V No ClinGen
gnomAD
CA279332200
rs908747188
97 P>L No ClinGen
TOPMed
gnomAD
rs181415488
CA7938357
98 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs748140778
CA7938356
101 D>N Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395241108
rs1385137171
104 I>M No ClinGen
TOPMed
CA7938355
rs781252777
104 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA7938353
rs751365983
106 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
CA395241098
rs751365983
106 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA395241087
rs1226140747
108 E>* No ClinGen
gnomAD
TCGA novel 112 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395241057
rs1328940523
112 I>T No ClinGen
TOPMed
CA279332167
COSM302324
rs1015377222
114 T>I Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs758080532
CA7938351
116 I>M No ClinGen
ExAC
gnomAD
rs770710839
CA279332163
116 I>V No ClinGen
Ensembl
rs1003961744
CA279332160
117 W>C No ClinGen
TOPMed
CA395241014
rs1265354362
119 T>A No ClinGen
gnomAD
CA7938350
rs749993997
120 V>L No ClinGen
ExAC
gnomAD
rs761281280
CA7938348
121 P>Q No ClinGen
ExAC
gnomAD
CA395241002
rs1425613899
121 P>S No ClinGen
gnomAD
CA279332121
rs538799671
123 T>S No ClinGen
1000Genomes
rs975483612
CA279332114
124 I>M No ClinGen
gnomAD
CA7938346
rs142100378
124 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1032845174
CA279332101
129 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1490438746
CA395240946
130 V>L No ClinGen
gnomAD
rs770936651
CA395240925
133 P>A No ClinGen
TOPMed
rs759836680
CA7938342
133 P>L No ClinGen
ExAC
gnomAD
rs759836680
CA7938343
133 P>Q No ClinGen
ExAC
gnomAD
rs770936651
CA279332100
133 P>T No ClinGen
TOPMed
CA395240916
rs1318655690
135 K>Q No ClinGen
gnomAD
rs137883582
CA7938340
137 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749366228
CA7938339
138 T>A No ClinGen
ExAC
gnomAD
CA7938338
rs146922265
138 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1345333213
CA395240887
139 V>F No ClinGen
gnomAD
rs1345333213
CA395240888
139 V>L No ClinGen
gnomAD
rs537730436
CA7938335
141 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
CA395240876
rs1292118687
141 Y>N No ClinGen
gnomAD
CA7938334
rs758087867
143 A>S No ClinGen
ExAC
gnomAD
CA7938333
rs750115024
144 R>C Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs778511361
CA7938332
144 R>H No ClinGen
ExAC
gnomAD
COSM557113
CA395240859
rs750115024
144 R>S lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs117796776
CA279332028
145 T>S No ClinGen
1000Genomes
rs1177481050
CA395240852
145 T>S No ClinGen
gnomAD
CA7938331
rs756813774
COSM1253519
146 R>Q Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1000398834
CA279332020
146 R>W No ClinGen
TOPMed
rs779166553
CA395240828
149 I>M No ClinGen
TOPMed
gnomAD
CA7938329
rs371060930
149 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA395240818
rs753106637
151 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs756668514
CA7938328
151 S>R No ClinGen
ExAC
gnomAD
CA7938327
rs753106637
151 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA395240808
rs1244720077
153 Y>H No ClinGen
TOPMed
CA279332000
rs1013940734
156 C>F No ClinGen
gnomAD
CA7938326
rs767966063
161 I>F No ClinGen
ExAC
gnomAD
CA7938325
rs759798192
164 Y>* No ClinGen
ExAC
gnomAD
TCGA novel 165 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 166 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1009146155
CA279331980
166 W>R No ClinGen
TOPMed
rs1363307473
CA395240690
169 I>M No ClinGen
gnomAD
CA279331975
rs868806533
COSM1708825
170 W>* skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1272020019
CA395240688
170 W>R No ClinGen
TOPMed
CA279331951
rs890668532
174 Y>* No ClinGen
TOPMed
CA279331968
rs1001230865
174 Y>S No ClinGen
Ensembl
CA279331945
rs905407464
175 I>T No ClinGen
gnomAD
CA395240634
rs1408438853
177 T>I No ClinGen
gnomAD
rs1337462285
CA395240622
179 V>A No ClinGen
gnomAD
TCGA novel 179 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1421932721
CA395240626
179 V>M No ClinGen
TOPMed
rs1373611772
CA395240614
180 H>Q No ClinGen
TOPMed
CA7938322
rs773441202
182 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA7938321
rs773441202
182 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7938319
rs746995178
183 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1304900610
CA395240591
184 I>M No ClinGen
TOPMed
CA279331915
rs915011877
184 I>S No ClinGen
TOPMed
gnomAD
CA7938317
rs771946888
184 I>V No ClinGen
ExAC
gnomAD
rs1244518828
CA395240588
185 W>G No ClinGen
TOPMed
gnomAD
rs1244518828
CA395240590
185 W>R No ClinGen
TOPMed
gnomAD
rs1460608621
CA395240545
190 T>N No ClinGen
gnomAD
COSM3787096
rs368847803
CA7938315
191 V>I pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA7938314
rs756905722
194 V>E No ClinGen
ExAC
gnomAD
rs755549727
CA7938311
197 S>C No ClinGen
ExAC
gnomAD
CA7938310
rs753297345
198 I>N No ClinGen
ExAC
rs1451916218
CA395240490
199 F>L No ClinGen
gnomAD
CA395240475
rs1377279993
201 I>S No ClinGen
TOPMed
gnomAD
CA395240476
rs1377279993
201 I>T No ClinGen
TOPMed
gnomAD
rs767897247
CA7938308
203 N>S No ClinGen
ExAC
gnomAD
CA7938306
rs145592899
205 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1386953566
CA395240437
207 V>E No ClinGen
gnomAD
rs934038967
CA279331862
208 Y>N No ClinGen
Ensembl
CA395240411
rs1462141768
211 R>K No ClinGen
TOPMed
gnomAD
rs763292683
CA7938304
212 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA395240388
rs1451326198
214 S>T No ClinGen
TOPMed
rs1480751019
CA395240369
216 F>L No ClinGen
gnomAD
rs942765597
COSM967969
CA279331812
217 R>C large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs761772877
CA7938302
217 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7938301
rs761772877
217 R>L No ClinGen
ExAC
gnomAD
CA7938300
rs775551797
218 L>F No ClinGen
ExAC
gnomAD
rs771899095
CA7938299
219 R>C No ClinGen
ExAC
gnomAD
rs372844926
CA7938298
219 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374393252
CA279331771
221 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144787739
CA7938295
223 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144787739
CA7938296
COSM1563214
223 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199641856
CA7938292
224 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780690861
CA7938291
227 T>I No ClinGen
ExAC
gnomAD
CA395240307
rs1314429704
228 A>S No ClinGen
gnomAD
rs1314429704
CA395240308
COSM271930
228 A>T Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7938289
rs752066033
229 I>V No ClinGen
ExAC
gnomAD
rs140826186
CA7938288
231 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs551069792
CA395240261
235 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs551069792
CA7938286
235 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA395240263
rs1366271799
235 S>P No ClinGen
gnomAD
rs1219343579
CA395240253
236 I>M No ClinGen
TOPMed
rs762019600
CA7938284
238 A>V No ClinGen
ExAC
gnomAD
rs143674735
CA7938283
239 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7938282
rs562935712
240 L>F No ClinGen
1000Genomes
ExAC
CA395240220
rs1310132792
242 A>T No ClinGen
TOPMed
rs1270027468
CA395240212
243 P>S No ClinGen
gnomAD
TCGA novel 243 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7938280
rs774243224
244 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA7938279
rs140063049
244 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA279331686
rs866286293
247 M>I No ClinGen
Ensembl
CA7938277
rs370101416
248 I>V No ClinGen
ESP
ExAC
gnomAD
rs1567233885
CA621665006
250 Y>* No ClinGen
Ensembl
CA395240163
rs562419932
250 Y>* No ClinGen
1000Genomes
ExAC
CA395240162
rs1383056575
251 H>N No ClinGen
gnomAD
rs747782887
CA7938274
251 H>Q No ClinGen
ExAC
gnomAD
rs780592517
CA7938273
253 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 254 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7938272
rs768243680
255 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1388412861
CA395240118
258 Q>K No ClinGen
gnomAD
rs747556372
CA7938271
260 R>C No ClinGen
ExAC
gnomAD
rs201301006
CA7938270
260 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs747556372
CA395240102
260 R>S No ClinGen
ExAC
gnomAD
CA7938269
rs758887814
261 W>L No ClinGen
ExAC
gnomAD
CA395240097
rs1410793752
261 W>R No ClinGen
gnomAD
CA395240081
rs1423315743
263 V>A No ClinGen
TOPMed
rs373440031
CA279331629
265 I>M No ClinGen
Ensembl
rs1414678143
CA395240067
265 I>T No ClinGen
TOPMed
CA7938265
rs754041218
266 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA395240062
rs1159032666
266 M>T No ClinGen
TOPMed
rs757433137
CA7938266
266 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs760723072
CA7938263
268 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7938261
rs374532990
269 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA279331606
rs374532990
269 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1266281677
CA395240033
271 N>D No ClinGen
gnomAD
rs539936998
CA7938260
271 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7938259
rs762886187
272 M>I No ClinGen
ExAC
gnomAD
CA7938256
rs761406669
279 A>V No ClinGen
ExAC
gnomAD
TCGA novel 280 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776388655
CA7938255
282 F>V No ClinGen
ExAC
CA7938254
rs768327452
284 L>F No ClinGen
ExAC
TCGA novel 285 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7938252
rs144836581
291 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7938253
rs556069972
COSM182607
291 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA7938251
rs750639804
293 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs746326530
CA7938250
293 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs746326530
CA395239882
293 R>L No ClinGen
ExAC
gnomAD
rs1406283279
CA395239876
294 T>I No ClinGen
gnomAD
CA7938247
rs749523304
295 M>T No ClinGen
ExAC
TOPMed
gnomAD
COSM3736139
CA7938248
rs149441644
295 M>V skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7938245
rs188626855
298 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7938244
rs752778755
299 T>A No ClinGen
ExAC
gnomAD
rs767531379
CA395239849
299 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7938243
rs767531379
299 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1278131938
CA395239845
300 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 300 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs533506374
CA395239838
301 K>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs533506374
CA279331554
301 K>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs1252825563
CA395239827
303 F>L No ClinGen
gnomAD
CA395239803
rs1471800860
306 C>G No ClinGen
TOPMed
CA279331550
rs770079261
310 P>S No ClinGen
Ensembl
rs1419204742
CA395239765
311 V>E No ClinGen
TOPMed
CA7938240
rs764984700
311 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7938239
rs761645297
312 Q>P No ClinGen
ExAC
gnomAD
TCGA novel 313 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7938238
rs776481788
314 Y>C No ClinGen
ExAC
gnomAD
CA7938237
rs763831028
316 N>K No ClinGen
ExAC
gnomAD
rs868621318
CA395239714
318 N>K No ClinGen
gnomAD
rs760333722
CA7938236
318 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA395239708
rs1361698674
319 F>S No ClinGen
TOPMed
gnomAD
rs1399166045
CA395239710
319 F>V No ClinGen
TOPMed
gnomAD
rs1168838873
CA395239697
321 I>V No ClinGen
gnomAD
CA395239688
rs1429688515
322 T>K No ClinGen
TOPMed
gnomAD
rs1429688515
CA395239687
322 T>R No ClinGen
TOPMed
gnomAD
CA395239642
rs1237205341
COSM3741808
328 S>L liver [Cosmic] No ClinGen
cosmic curated
Ensembl
rs904899563
COSM172181
CA279331519
329 P>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 331 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 333 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1379723211
CA395239603
334 C>F No ClinGen
TOPMed
CA7938234
rs771560703
336 K>* No ClinGen
ExAC
gnomAD
TCGA novel 345 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7938231
rs771259684
348 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs778045772
CA7938229
350 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA395239482
rs1247565139
351 V>A No ClinGen
gnomAD
CA7938228
rs756345987
351 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7938226
rs199929675
353 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748325656
CA7938227
353 P>S No ClinGen
ExAC
gnomAD

No associated diseases with Q6DWJ6

3 regional properties for Q6DWJ6

Type Name Position InterPro Accession
repeat RPEL repeat 63 - 88 IPR004018-1
repeat RPEL repeat 583 - 608 IPR004018-2
repeat RPEL repeat 621 - 646 IPR004018-3

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.

2 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
neuropeptide receptor activity Combining with a neuropeptide to initiate a change in cell activity.

2 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.
phospholipase C-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG).

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
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor 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
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
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
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
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
Q80UC8 Gpr139 Probable G-protein coupled receptor 139 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
P35370 Oprl1 Nociceptin receptor Rattus norvegicus (Rat) PR
P46090 Cmklr2 Chemerin-like receptor 2 Rattus norvegicus (Rat) PR
P0C0W8 Gpr139 Probable G-protein coupled receptor 139 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
MEHTHAHLAA NSSLSWWSPG SACGLGFVPV VYYSLLLCLG LPANILTVII LSQLVARRQK
70 80 90 100 110 120
SSYNYLLALA AADILVLFFI VFVDFLLEDF ILNMQMPQVP DKIIEVLEFS SIHTSIWITV
130 140 150 160 170 180
PLTIDRYIAV CHPLKYHTVS YPARTRKVIV SVYITCFLTS IPYYWWPNIW TEDYISTSVH
190 200 210 220 230 240
HVLIWIHCFT VYLVPCSIFF ILNSIIVYKL RRKSNFRLRG YSTGKTTAIL FTITSIFATL
250 260 270 280 290 300
WAPRIIMILY HLYGAPIQNR WLVHIMSDIA NMLALLNTAI NFFLYCFISK RFRTMAAATL
310 320 330 340 350
KAFFKCQKQP VQFYTNHNFS ITSSPWISPA NSHCIKMLVY QYDKNGKPIK VSP