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 Q9Y5V3

Entry ID Method Resolution Chain Position Source
AF-Q9Y5V3-F1 Predicted AlphaFoldDB

372 variants for Q9Y5V3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA413209747
rs1557363866
2 A>P No ClinGen
gnomAD
CA10417361
rs781923517
3 Q>H No ClinGen
ExAC
gnomAD
rs1247051538
CA413209781
6 D>E No ClinGen
TOPMed
CA413209779
rs1490184978
6 D>G No ClinGen
TOPMed
gnomAD
CA10417362
rs782164446
6 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA413209804
rs1557363870
10 G>S No ClinGen
gnomAD
CA413209822
rs1557363875
13 G>R No ClinGen
gnomAD
CA413210230
rs1557364020
16 A>V No ClinGen
gnomAD
CA413210239
rs1557364021
18 A>T No ClinGen
gnomAD
rs200403502
CA10417448
20 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA10417449
rs782630514
27 M>V No ClinGen
ExAC
gnomAD
rs1005773945
CA329857960
34 I>M No ClinGen
Ensembl
rs887431194
CA329857959
34 I>V No ClinGen
Ensembl
CA329857961
rs781969465
35 Q>H No ClinGen
TOPMed
gnomAD
rs1557364035
CA413210376
38 E>K No ClinGen
gnomAD
CA413210384
rs1172447418
39 A>T No ClinGen
TOPMed
gnomAD
CA413210403
rs1467011012
42 T>A No ClinGen
TOPMed
gnomAD
CA10417451
rs782478822
42 T>I No ClinGen
ExAC
CA413210415
rs868972461
44 Q>K No ClinGen
TOPMed
rs782081087
CA10417452
45 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1439282884
CA413210427
45 A>V No ClinGen
TOPMed
CA413210429
rs1238979737
46 T>A No ClinGen
TOPMed
CA10417454
rs782423064
47 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA10417453
rs782184047
47 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA10417455
rs782021678
48 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs782253302
CA10417456
50 S>C No ClinGen
ExAC
gnomAD
rs1200957240
CA413210474
53 S>T No ClinGen
TOPMed
rs1347107159
CA413210494
56 P>S No ClinGen
TOPMed
gnomAD
CA10417458
rs370800331
58 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782707442
CA10417460
59 A>D No ClinGen
ExAC
gnomAD
CA10417459
rs375273111
59 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413210520
rs868984329
60 N>K No ClinGen
Ensembl
rs1602271014
CA413210528
61 E>D No ClinGen
Ensembl
TCGA novel 63 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413210541
rs1354193576
63 A>V No ClinGen
TOPMed
rs1569556021
CA413210556
65 I>T No ClinGen
Ensembl
CA10417462
rs782161142
66 Q>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782782535
CA10417463
66 Q>R No ClinGen
ExAC
gnomAD
rs1602271047
CA413210569
67 V>G No ClinGen
Ensembl
TCGA novel
CA10417464
COSM457707
rs782818810
68 S>L Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA
ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1557364056
CA413210581
69 A>V No ClinGen
gnomAD
rs782486427
CA10417465
70 A>P No ClinGen
ExAC
gnomAD
CA10417466
COSM1468455
rs201938318
72 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413210609
rs1557364061
74 P>R No ClinGen
gnomAD
CA413210625
rs1557364062
77 A>T No ClinGen
TOPMed
gnomAD
CA10417467
rs202085108
77 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1397109630
CA413210657
81 Q>L No ClinGen
TOPMed
rs1569556022
CA413210678
84 T>N No ClinGen
Ensembl
rs1296920513
CA413210701
87 G>A No ClinGen
TOPMed
gnomAD
rs868947517
CA329857965
89 N>S No ClinGen
Ensembl
rs1381332385
CA413210719
90 G>D No ClinGen
TOPMed
gnomAD
rs1419429225
COSM1122839
CA413210716
90 G>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA413210721
rs1381332385
90 G>V No ClinGen
TOPMed
gnomAD
CA10417468
rs151112988
92 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1557364073
CA413210738
93 D>A No ClinGen
gnomAD
rs1557364073
CA413210739
93 D>G No ClinGen
gnomAD
rs944614430
CA329857967
94 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA413210778
rs1188389838
98 H>R No ClinGen
TOPMed
CA10417469
rs782685654
99 N>I No ClinGen
ExAC
gnomAD
TCGA novel 99 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868968232
CA413210802
101 K>N No ClinGen
Ensembl
rs1557364079
CA413210807
102 D>G No ClinGen
gnomAD
COSM1236076
CA10417470
rs141080853
103 V>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs900326660
CA329857968
104 P>L No ClinGen
Ensembl
CA413210816
rs1260887186
104 P>S No ClinGen
TOPMed
rs782524377
CA10417471
105 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1215841173
CA413210826
105 N>K No ClinGen
TOPMed
TCGA novel 107 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA329857969
rs931761475
109 K>R No ClinGen
Ensembl
rs782224952
CA10417473
110 A>S No ClinGen
ExAC
gnomAD
rs782336578
CA10417474
111 A>G No ClinGen
ExAC
gnomAD
CA10417475
rs781940383
115 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA329857971
rs113823505
115 Q>L No ClinGen
Ensembl
rs113823505
CA329857970
115 Q>R No ClinGen
Ensembl
rs137856838
CA10417476
116 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1284254579
CA413210903
117 A>P No ClinGen
TOPMed
rs1246300305
CA413210911
118 T>N No ClinGen
TOPMed
CA10417477
rs781837717
120 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs782015606
CA10417478
121 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA10417479
rs782015606
121 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA413210932
rs1557364098
122 P>A No ClinGen
gnomAD
rs1557364099
CA413210947
124 A>S No ClinGen
gnomAD
rs782765353
CA10417480
126 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 127 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 129 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417481
rs781958046
130 Q>R No ClinGen
ExAC
gnomAD
CA10417482
rs782072763
132 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA413211006
rs1300493584
133 T>A No ClinGen
TOPMed
CA413211008
rs1403789983
133 T>I No ClinGen
TOPMed
CA329857973
rs1004467541
138 A>D No ClinGen
TOPMed
gnomAD
CA413211047
rs1557364105
139 A>V No ClinGen
gnomAD
CA413211052
rs1473792631
140 N>S No ClinGen
TOPMed
gnomAD
CA10417483
rs782690282
142 S>F No ClinGen
ExAC
gnomAD
CA413211083
rs1557364109
144 M>I No ClinGen
gnomAD
CA413211086
rs1557364110
145 A>T No ClinGen
gnomAD
rs781908113
CA10417484
147 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs782783990
CA10417486
152 T>I No ClinGen
ExAC
gnomAD
CA413211144
rs1557364116
153 T>I No ClinGen
gnomAD
CA10417487
rs781855948
153 T>P No ClinGen
ExAC
gnomAD
rs1478145988
CA413211149
154 K>R No ClinGen
TOPMed
CA413211164
rs1569556029
156 G>D No ClinGen
Ensembl
rs200672367
CA413211160
156 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA10417488
rs200672367
156 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA413211171
rs1265046448
158 N>H No ClinGen
TOPMed
rs373610127
CA10417489
159 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413211191
rs1450851195
161 Y>H No ClinGen
TOPMed
CA413211216
rs1557364119
164 S>P No ClinGen
gnomAD
TCGA novel 164 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 167 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781800238
CA10417490
167 L>R No ClinGen
ExAC
TOPMed
rs1336802925
CA413211254
169 A>G No ClinGen
TOPMed
rs1557364126
CA413211288
174 N>K No ClinGen
gnomAD
rs782279092
CA10417493
COSM367919
174 N>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1014916789
CA329857975
175 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA413211353
rs1218543591
184 W>R No ClinGen
TOPMed
gnomAD
TCGA novel 185 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1341730201
CA413211371
186 D>G No ClinGen
TOPMed
gnomAD
rs782388905
CA10417494
186 D>N No ClinGen
ExAC
gnomAD
CA413211392
rs1434718424
189 K>R No ClinGen
TOPMed
rs782620932
CA10417495
190 A>T No ClinGen
ExAC
gnomAD
rs1557364128
CA413211401
191 P>T No ClinGen
Ensembl
rs1557364131
CA413211409
192 T>A No ClinGen
gnomAD
rs1330910040
CA413211413
192 T>I No ClinGen
TOPMed
CA10417497
rs782219264
196 Q>E No ClinGen
ExAC
gnomAD
rs1324386205
CA413211440
196 Q>H No ClinGen
TOPMed
CA10417499
rs781919008
200 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 205 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782166963
CA10417500
210 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs782007617
CA10417502
211 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA413211543
rs1557364138
211 D>G No ClinGen
gnomAD
rs782122591
CA10417503
212 I>T No ClinGen
ExAC
gnomAD
rs781817508
CA10417505
215 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10417506
rs782059533
217 G>A No ClinGen
ExAC
gnomAD
rs1557364140
CA413211580
217 G>S No ClinGen
gnomAD
CA10417508
rs187608453
221 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1477539787
CA413211614
222 D>G No ClinGen
TOPMed
rs1557364146
CA413211611
222 D>N No ClinGen
gnomAD
rs1200539590
CA413211620
223 G>C No ClinGen
TOPMed
gnomAD
rs1200539590
CA413211621
223 G>R No ClinGen
TOPMed
gnomAD
rs782647419
CA10417510
224 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA413211648
rs1602271926
227 Q>H No ClinGen
Ensembl
CA10417511
rs781843210
228 T>I No ClinGen
ExAC
gnomAD
CA10417512
rs372248500
229 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1319430880
CA413211679
232 G>D No ClinGen
TOPMed
gnomAD
rs782586931
CA10417513
234 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA329857978
VAR_060070
rs12689461
238 L>M No ClinGen
UniProt
Ensembl
dbSNP
CA413211736
rs1557364162
241 R>Q No ClinGen
gnomAD
CA413211734
rs1367265626
241 R>W No ClinGen
TOPMed
CA413211761
rs1557364167
245 R>L No ClinGen
gnomAD
rs782441648
CA10417515
245 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1438859188
CA413211762
246 G>S No ClinGen
TOPMed
TCGA novel 247 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557364170
CA413211788
249 T>I No ClinGen
gnomAD
CA10417516
rs782664441
250 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA413211791
rs1557364172
250 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1375022505
CA413211795
251 K>E No ClinGen
TOPMed
gnomAD
rs937568012
CA329858014
254 N>K No ClinGen
TOPMed
gnomAD
rs1430602642
CA413211853
257 V>I No ClinGen
TOPMed
gnomAD
CA413211871
rs1569556038
259 E>G No ClinGen
Ensembl
rs1054652414
CA329858015
261 S>N No ClinGen
Ensembl
CA413211901
rs1265716558
263 G>E No ClinGen
TOPMed
rs1190827666
CA413211918
265 Q>H No ClinGen
TOPMed
gnomAD
rs1557364241
CA413211929
267 R>Q No ClinGen
gnomAD
rs1569556039
CA413211927
267 R>W No ClinGen
Ensembl
CA10417531
rs782813783
268 A>S No ClinGen
ExAC
gnomAD
rs1254946533
CA413211937
269 P>S No ClinGen
TOPMed
CA413211944
rs1557364248
270 L>V No ClinGen
gnomAD
CA10417533
rs41307638
272 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10417534
rs200760701
274 T>N No ClinGen
1000Genomes
ExAC
gnomAD
rs782067804
CA10417535
279 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs782464555
CA10417536
280 V>L No ClinGen
ExAC
gnomAD
CA10417537
rs782579183
281 P>L No ClinGen
ExAC
gnomAD
TCGA novel 281 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417539
rs782412901
288 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA10417540
rs782723158
289 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10417542
rs782366877
290 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10417543
rs781843206
291 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs782816205
CA10417544
292 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs782816205
CA413212080
292 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs782816205
CA413212079
292 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 293 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782037331
CA10417546
293 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA10417547
rs782157196
295 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA10417548
rs782785070
296 W>* No ClinGen
ExAC
gnomAD
CA10417549
COSM1122845
rs374985036
298 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782716564
CA10417551
302 W>L No ClinGen
ExAC
gnomAD
COSM1714977
CA329858016
rs953337601
305 P>L skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs144665907
CA10417552
305 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1557364269
CA413212172
306 S>* No ClinGen
gnomAD
rs868919469
CA413212186
308 W>* No ClinGen
Ensembl
CA413212194
rs1557364271
309 Q>R No ClinGen
gnomAD
rs1376273974
CA413212209
311 Q>R No ClinGen
TOPMed
rs1433953500
CA413212215
312 T>S No ClinGen
TOPMed
rs1557364279
CA413212224
313 A>V No ClinGen
gnomAD
rs782429347
CA10417553
314 R>G No ClinGen
ExAC
rs369211587
CA10417554
317 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413212253
rs1557364285
318 P>L No ClinGen
gnomAD
CA413212252
rs1557364283
318 P>S No ClinGen
gnomAD
CA10417555
rs782278863
COSM4149115
320 R>C ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA10417556
rs373153783
COSM1122846
320 R>H Variant assessed as Somatic; 0.0001875 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1016077804
CA329858018
325 A>T No ClinGen
Ensembl
rs1557364293
CA413212300
325 A>V No ClinGen
gnomAD
CA413212330
rs1197469487
327 Q>H No ClinGen
TOPMed
CA413212342
rs1482263573
328 T>N No ClinGen
TOPMed
rs962156612
CA329858019
331 A>G No ClinGen
gnomAD
CA10417557
rs782639348
331 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 334 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413212435
rs1255164238
334 N>Y No ClinGen
TOPMed
TCGA novel 335 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM613064
rs1557364302
CA413212477
337 A>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA10417559
rs782328913
338 W>S No ClinGen
ExAC
gnomAD
rs782563644
CA10417560
339 Q>H No ClinGen
ExAC
gnomAD
rs782408875
CA10417562
341 P>L No ClinGen
ExAC
CA413212671
rs1557364306
350 W>C No ClinGen
gnomAD
rs782365744
CA329858020
356 W>* No ClinGen
ExAC
gnomAD
rs782365744
CA10417565
356 W>C No ClinGen
ExAC
gnomAD
rs202231305
CA329858021
360 I>T No ClinGen
TOPMed
gnomAD
CA413212835
rs868908762
362 W>R No ClinGen
Ensembl
CA10417567
rs782058530
364 G>S No ClinGen
ExAC
gnomAD
CA413212940
rs1393627992
369 P>L No ClinGen
TOPMed
gnomAD
rs1569556046
CA413212987
373 A>V No ClinGen
Ensembl
CA413213009
rs1397289172
374 W>C No ClinGen
TOPMed
CA329858022
rs949089253
375 Q>H No ClinGen
TOPMed
CA413213059
rs1557364328
378 P>S No ClinGen
gnomAD
rs1557364329
CA413213073
379 G>E No ClinGen
gnomAD
TCGA novel 380 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413213161
rs1184123102
385 G>V No ClinGen
TOPMed
gnomAD
rs1422163082
CA413213165
386 W>R No ClinGen
TOPMed
CA10417571
rs782143827
390 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA413213249
rs1557364344
391 G>A No ClinGen
gnomAD
rs1557364344
CA413213254
391 G>D No ClinGen
gnomAD
rs781858162
CA10417573
398 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA413213377
rs1557364351
399 Q>R No ClinGen
gnomAD
rs782485124
COSM356555
CA10417574
404 W>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA413213464
rs1241941161
405 P>L No ClinGen
TOPMed
gnomAD
rs199911189
CA413213461
405 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10417575
rs199911189
405 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA329858023
rs937605675
408 P>A No ClinGen
Ensembl
CA413213504
rs1415944420
409 D>N No ClinGen
TOPMed
TCGA novel 411 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA329858024
rs782664037
413 P>L No ClinGen
1000Genomes
rs1569556047
CA413213574
414 P>S No ClinGen
Ensembl
rs868916611
CA413213621
417 P>S No ClinGen
Ensembl
CA413213649
rs1557364370
419 P>L No ClinGen
gnomAD
rs782272903
CA10417582
430 P>S No ClinGen
ExAC
gnomAD
CA10417584
COSM272915
rs200856189
431 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782320715
CA10417586
439 W>G No ClinGen
ExAC
gnomAD
CA10417587
rs377687584
443 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10417588
rs782201149
443 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs782396572
CA10417589
445 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs782396572
CA10417590
445 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs782743389
COSM1214237
CA10417592
449 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA413214063
rs1207718321
449 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA413214074
rs1557364387
450 P>L No ClinGen
gnomAD
TCGA novel 450 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782567257
CA329858025
454 S>L No ClinGen
TOPMed
gnomAD
CA10417593
rs781823534
455 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10417594
rs782054914
455 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA413214151
rs1557364396
456 A>V No ClinGen
gnomAD
CA10417599
rs144566171
461 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10417598
rs782632346
461 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs148038224
CA10417601
465 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148038224
CA10417600
465 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413214271
rs782178846
466 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10417603
rs782539728
466 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA413214287
rs1557364406
467 D>G No ClinGen
gnomAD
TCGA novel 474 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 477 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413214528
rs1256652889
479 V>I No ClinGen
TOPMed
TCGA novel 481 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 485 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413214653
rs868913093
487 Y>H No ClinGen
Ensembl
rs782145405
CA10417612
490 V>M No ClinGen
ExAC
gnomAD
rs1557364465
CA413214879
498 L>R No ClinGen
gnomAD
rs1557364467
CA413214911
500 D>E No ClinGen
gnomAD
rs1006137150
CA329858049
501 I>V No ClinGen
TOPMed
CA10417629
rs782242302
503 R>H No ClinGen
ExAC
gnomAD
CA10417630
rs782365292
506 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1602274476
CA413214988
506 T>N No ClinGen
Ensembl
CA10417631
rs781958274
507 D>G No ClinGen
ExAC
gnomAD
rs1569556057
CA413215009
COSM756978
508 V>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA413215094
rs1159412192
513 I>M No ClinGen
TOPMed
rs1557364472
CA413215086
513 I>V No ClinGen
gnomAD
TCGA novel 514 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 517 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 521 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 523 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417641
rs781804243
525 G>R No ClinGen
ExAC
gnomAD
rs1557364489
CA413215446
535 E>G No ClinGen
gnomAD
rs1557364497
CA413215632
550 I>V No ClinGen
gnomAD
TCGA novel 551 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 552 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 553 T>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417645
rs782505944
553 T>M No ClinGen
ExAC
gnomAD
rs1557364543
CA413215760
556 D>E No ClinGen
gnomAD
TCGA novel 556 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413215977
rs1557364545
573 N>K No ClinGen
gnomAD
rs375975220
CA10417661
576 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413216012
rs1557364547
COSM1682617
576 R>H haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1463800515
CA413216021
577 A>S No ClinGen
TOPMed
TCGA novel 579 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782610849
CA10417672
581 V>L No ClinGen
ExAC
gnomAD
CA413216192
COSM1122855
rs1279409349
587 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA413216199
rs1557364572
587 R>H No ClinGen
gnomAD
TCGA novel 590 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417673
rs782215243
592 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM613061
CA413216352
rs1357761085
595 V>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs199703705
CA10417690
599 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 608 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413218137
rs1557364755
619 Y>C No ClinGen
Ensembl
rs1557364757
CA413218146
620 R>G No ClinGen
gnomAD
CA413218163
rs1365984416
621 R>L No ClinGen
TOPMed
gnomAD
CA413218164
COSM1122856
rs1365984416
621 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA413218169
rs782716409
622 V>L No ClinGen
ExAC
gnomAD
CA10417705
rs782716409
622 V>M No ClinGen
ExAC
gnomAD
TCGA novel 628 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557364762 629 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs782812478
CA10417708
635 G>D No ClinGen
ExAC
gnomAD
CA10417709
rs781886205
636 L>I No ClinGen
ExAC
gnomAD
rs868987476
CA413218378
637 R>C No ClinGen
Ensembl
TCGA novel 657 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417720
rs782350059
660 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1265067489
CA413218754
660 R>H No ClinGen
TOPMed
rs868975876
CA413218778
662 W>* No ClinGen
Ensembl
CA413218801
rs868944708
663 T>P No ClinGen
Ensembl
rs781949229
CA10417721
663 T>S No ClinGen
ExAC
gnomAD
rs1557364951
CA413218823
664 A>V No ClinGen
gnomAD
rs1245884922
CA413218963
671 D>G No ClinGen
TOPMed
CA10417726
rs782695083
680 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA10417727
rs781839401
681 A>S No ClinGen
ExAC
gnomAD
rs1295438307
CA413219123
682 A>V No ClinGen
TOPMed
gnomAD
CA413219144
rs1557364963
684 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
COSM1468462
CA10417729
rs147478214
685 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 687 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417731
rs782548124
692 T>N No ClinGen
ExAC
gnomAD
CA413219262
rs1557364973
693 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10417732
RCV000999437
rs782675141
COSM1122858
693 R>H Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
TCGA novel 701 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1389832006
CA413219378
702 S>F No ClinGen
TOPMed
CA413219428
rs1557364984
706 S>N No ClinGen
gnomAD
CA413219686
rs1387960923
724 G>E No ClinGen
TOPMed
TCGA novel 725 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782611897
CA10417735
727 W>R No ClinGen
ExAC
gnomAD
TCGA novel 728 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413219794
rs1557365000
732 F>S No ClinGen
gnomAD
rs1449548717
CA413219808
733 T>N No ClinGen
TOPMed
CA413219831
rs1196023954
735 W>R No ClinGen
TOPMed
gnomAD
rs782320607
CA10417737
738 Y>H No ClinGen
ExAC
CA10417738
rs782557815
740 Q>H No ClinGen
ExAC
gnomAD
CA413219945
rs1557365011
743 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs782402643
CA10417740
743 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413219978
rs1210837854
746 F>V No ClinGen
TOPMed
CA10417742
rs150014410
748 Q>P No ClinGen
ESP
ExAC
rs782345608
CA10417743
750 F>V No ClinGen
ExAC
gnomAD
rs868979585
CA413220068
751 A>V No ClinGen
Ensembl
rs782050057
CA10417745
752 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs782050057
CA10417746
752 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781893662
CA10417747
754 I>V No ClinGen
ExAC
gnomAD
rs145319637
CA10417748
755 I>V No ClinGen
ESP
ExAC
TCGA novel 758 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782757319
CA10417749
760 T>A No ClinGen
ExAC
TOPMed
rs1557365021
CA413220187
761 A>D No ClinGen
gnomAD
CA329858238
rs935426204
762 S>G No ClinGen
TOPMed
CA413220201
rs1557365027
762 S>R No ClinGen
gnomAD
CA413220198
rs1557365024
762 S>T No ClinGen
gnomAD
TCGA novel 764 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782464602
CA10417751
766 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA413220266
rs1557365032
767 A>D No ClinGen
Ensembl
rs1323910111
CA413220330
772 I>V No ClinGen
TOPMed
gnomAD
rs1388327925
CA413220337
773 G>S No ClinGen
TOPMed
TCGA novel 777 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782541624
CA10417755
778 E>D No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q9Y5V3

1 regional properties for Q9Y5V3

Type Name Position InterPro Accession
domain MAGE homology domain 471 - 669 IPR002190

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cell membrane ; Peripheral membrane protein
  • Nucleus
  • Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

2 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
transcription coactivator activity A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

11 GO annotations of biological process

Name Definition
circadian regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.
negative regulation of epithelial cell proliferation Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.
negative regulation of protein localization to nucleus Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
positive regulation of branching involved in ureteric bud morphogenesis Any process that increases the rate, frequency or extent of branching involved in ureteric bud morphogenesis, the process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.
positive regulation of MAP kinase activity Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
protein localization to nucleus A process in which a protein transports or maintains the localization of another protein to the nucleus.
regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P43356 MAGEA2B Melanoma-associated antigen 2 Homo sapiens (Human) PR
O15479 MAGEB2 Melanoma-associated antigen B2 Homo sapiens (Human) PR
Q96MG7 NSMCE3 Non-structural maintenance of chromosomes element 3 homolog Homo sapiens (Human) PR
Q8TD90 MAGEE2 Melanoma-associated antigen E2 Homo sapiens (Human) PR
O15480 MAGEB3 Melanoma-associated antigen B3 Homo sapiens (Human) PR
P43365 MAGEA12 Melanoma-associated antigen 12 Homo sapiens (Human) PR
P43361 MAGEA8 Melanoma-associated antigen 8 Homo sapiens (Human) PR
P43364 MAGEA11 Melanoma-associated antigen 11 Homo sapiens (Human) PR
P43355 MAGEA1 Melanoma-associated antigen 1 Homo sapiens (Human) PR
P43358 MAGEA4 Melanoma-associated antigen 4 Homo sapiens (Human) PR
P43357 MAGEA3 Melanoma-associated antigen 3 Homo sapiens (Human) PR
P43360 MAGEA6 Melanoma-associated antigen 6 Homo sapiens (Human) PR
P43363 MAGEA10 Melanoma-associated antigen 10 Homo sapiens (Human) PR
Q9UNF1 MAGED2 Melanoma-associated antigen D2 Homo sapiens (Human) PR
Q96JG8 MAGED4B Melanoma-associated antigen D4 Homo sapiens (Human) PR
Q9BZ81 MAGEB5 Melanoma-associated antigen B5 Homo sapiens (Human) PR
Q9HAY2 MAGEF1 Melanoma-associated antigen F1 Homo sapiens (Human) PR
Q9QYH6 Maged1 Melanoma-associated antigen D1 Mus musculus (Mouse) PR
Q6ITT4 MAGED1 Melanoma-associated antigen D1 Sus scrofa (Pig) PR
Q9ES73 Maged1 Melanoma-associated antigen D1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAQKMDCGAG LLGFQAEASV EDSALLMQTL MEAIQISEAP PTNQATAAAS PQSSQPPTAN
70 80 90 100 110 120
EMADIQVSAA AARPKSAFKV QNATTKGPNG VYDFSQAHNA KDVPNTQPKA AFKSQNATPK
130 140 150 160 170 180
GPNAAYDFSQ AATTGELAAN KSEMAFKAQN ATTKVGPNAT YNFSQSLNAN DLANSRPKTP
190 200 210 220 230 240
FKAWNDTTKA PTADTQTQNV NQAKMATSQA DIETDPGISE PDGATAQTSA DGSQAQNLES
250 260 270 280 290 300
RTIIRGKRTR KINNLNVEEN SSGDQRRAPL AAGTWRSAPV PVTTQNPPGA PPNVLWQTPL
310 320 330 340 350 360
AWQNPSGWQN QTARQTPPAR QSPPARQTPP AWQNPVAWQN PVIWPNPVIW QNPVIWPNPI
370 380 390 400 410 420
VWPGPVVWPN PLAWQNPPGW QTPPGWQTPP GWQGPPDWQG PPDWPLPPDW PLPPDWPLPT
430 440 450 460 470 480
DWPLPPDWIP ADWPIPPDWQ NLRPSPNLRP SPNSRASQNP GAAQPRDVAL LQERANKLVK
490 500 510 520 530 540
YLMLKDYTKV PIKRSEMLRD IIREYTDVYP EIIERACFVL EKKFGIQLKE IDKEEHLYIL
550 560 570 580 590 600
ISTPESLAGI LGTTKDTPKL GLLLVILGVI FMNGNRASEA VLWEALRKMG LRPGVRHPLL
610 620 630 640 650 660
GDLRKLLTYE FVKQKYLDYR RVPNSNPPEY EFLWGLRSYH ETSKMKVLRF IAEVQKRDPR
670 680 690 700 710 720
DWTAQFMEAA DEALDALDAA AAEAEARAEA RTRMGIGDEA VSGPWSWDDI EFELLTWDEE
730 740 750 760 770
GDFGDPWSRI PFTFWARYHQ NARSRFPQTF AGPIIGPGGT ASANFAANFG AIGFFWVE