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 Q53GS9

Entry ID Method Resolution Chain Position Source
3JCR EM 700 A V 1-565 PDB
6AH0 EM 570 A W 1-565 PDB
6QW6 EM 292 A U 1-555 PDB
6QX9 EM 328 A U 1-555 PDB
AF-Q53GS9-F1 Predicted AlphaFoldDB

393 variants for Q53GS9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs368702825
CA51741513
2 S>F No ClinGen
ESP
TOPMed
gnomAD
rs1451038511
CA347494810
2 S>P No ClinGen
TOPMed
gnomAD
CA1743282
rs753021536
3 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs753021536
CA1743281
3 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1187708357
CA347494818
4 R>G No ClinGen
TOPMed
CA347494819
rs1187708357
4 R>W No ClinGen
TOPMed
CA1743284
rs377373923
5 S>C No ClinGen
ExAC
gnomAD
rs764558997
CA1743283
5 S>P No ClinGen
ExAC
TOPMed
rs1194365075
CA347494828
6 K>E No ClinGen
gnomAD
CA1743285
rs757672604
6 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs978887963
CA51741531
7 R>G No ClinGen
TOPMed
rs781741366
CA1743286
8 E>G No ClinGen
ExAC
gnomAD
CA347494849
rs1285148574
9 S>C No ClinGen
gnomAD
CA347494850
rs1285148574
9 S>F No ClinGen
gnomAD
rs1485348665
CA347494852
10 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1394422905
CA347494859
11 G>D No ClinGen
TOPMed
CA1743288
rs755706376
11 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA347494868
rs1378525737
13 T>P No ClinGen
TOPMed
rs779369298
CA1743289
14 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs779369298
CA51741538
14 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs768255282
CA1743291
15 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1743292
rs768255282
15 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA1743295
rs773271024
16 K>T No ClinGen
ExAC
gnomAD
rs887527600
CA347494891
17 R>P No ClinGen
Ensembl
rs887527600
CA51741553
17 R>Q No ClinGen
Ensembl
CA51741582
rs941829473
20 E>G No ClinGen
Ensembl
rs1432113989
CA347494919
21 S>L No ClinGen
gnomAD
CA1743297
rs769931462
22 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs769931462
CA1743298
22 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA347494921
rs1417817111
22 R>W No ClinGen
gnomAD
rs1454837308
CA347494928
23 G>V No ClinGen
gnomAD
CA347494930
rs1364524402
24 S>G No ClinGen
gnomAD
CA51741589
rs1044529615
25 S>C No ClinGen
gnomAD
rs1044529615
CA347494940
25 S>Y No ClinGen
gnomAD
CA347494943
rs751798553
26 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA1743301
rs751798553
26 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1371148616
CA347494948
27 R>C No ClinGen
gnomAD
CA1743302
rs762333361
27 R>H No ClinGen
ExAC
gnomAD
rs867852816
CA51741596
28 V>I No ClinGen
Ensembl
rs767759506
CA1743303
29 K>* No ClinGen
ExAC
gnomAD
CA347494960
rs1195534786
29 K>R No ClinGen
TOPMed
rs750952537
CA51741606
31 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs750952537
CA1743304
31 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1743305
rs183831987
33 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs552542357
CA1743308
34 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs552542357
CA1743307
34 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779642637
CA1743306
34 R>W No ClinGen
ExAC
gnomAD
CA51741621
rs1035625944
35 E>K No ClinGen
Ensembl
rs778580860
CA51741622
36 R>W No ClinGen
ExAC
gnomAD
rs1004362393
CA51741624
37 E>K No ClinGen
TOPMed
CA1743310
rs371736825
37 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114838872
CA1743311
38 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA347495006
rs1420386936
38 P>T No ClinGen
gnomAD
rs746972484
CA1743313
39 E>K No ClinGen
ExAC
gnomAD
rs1165310963
CA347495023
40 A>V No ClinGen
gnomAD
rs1461245958
CA347495029
41 A>E No ClinGen
TOPMed
gnomAD
rs1390676663
CA347495030
42 S>R No ClinGen
TOPMed
rs763164583
CA1743316
43 S>F No ClinGen
ExAC
gnomAD
rs768850385
CA1743317
44 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs768850385
CA347495043
44 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA51741662
rs968952197
45 G>D No ClinGen
gnomAD
CA347495049
rs1449122669
45 G>S No ClinGen
gnomAD
rs1382389661
CA347495053
46 S>G No ClinGen
gnomAD
CA1743318
rs774771518
46 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs1292216245
CA347495057
46 S>R No ClinGen
gnomAD
rs774771518
CA347495056
46 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs968925369
CA51741671
47 P>L No ClinGen
TOPMed
gnomAD
rs968925369
CA347495062
47 P>R No ClinGen
TOPMed
gnomAD
rs1023203469
CA51741667
47 P>S No ClinGen
TOPMed
gnomAD
rs1023203469
CA347495059
47 P>T No ClinGen
TOPMed
gnomAD
CA1743321
rs767925097
48 V>M No ClinGen
ExAC
gnomAD
CA51741680
rs1000361529
49 R>G No ClinGen
TOPMed
gnomAD
CA1743323
rs367889558
50 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1743322
rs750709837
50 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA347495073
rs750709837
50 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1253074561
CA347495078
51 K>E No ClinGen
TOPMed
rs1208305022
CA347495081
51 K>R No ClinGen
TOPMed
rs754314800
CA347495087
52 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs754314800
CA1743325
52 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs964702887
CA51741694
53 E>D No ClinGen
TOPMed
gnomAD
rs754552396
CA1743326
53 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754552396
CA1743327
53 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA347495101
rs1468161173
54 F>L No ClinGen
TOPMed
gnomAD
CA347495109
rs752363838
55 E>D No ClinGen
ExAC
gnomAD
rs1405452296
CA347495111
56 P>A No ClinGen
gnomAD
rs1453376967
CA347495115
56 P>L No ClinGen
gnomAD
CA347495119
rs556991835
57 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs556991835
CA51741701
57 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1743330
rs556991835
57 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1384721810
CA347495121
58 S>G No ClinGen
TOPMed
rs746734029
CA1743331
58 S>I No ClinGen
ExAC
gnomAD
rs757054450
CA347495125
58 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs781343856
CA1743333
59 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA347495132
rs1202319838
60 R>S No ClinGen
gnomAD
rs745785307
CA347495150
62 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs745785307
CA1743334
62 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs575261072
CA1743335
63 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1743336
rs575261072
63 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA347495159
rs1365941916
64 A>V No ClinGen
TOPMed
CA1743337
rs748429498
65 S>A No ClinGen
ExAC
gnomAD
rs772132448
CA1743338
65 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA347495178
rs1425486374
68 P>A No ClinGen
TOPMed
gnomAD
rs543189013
CA1743341
68 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs543189013
CA1743340
68 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs543189013
CA1743342
68 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1475678016
CA347495181
69 F>L No ClinGen
Ensembl
rs1204521116
CA347495192
70 V>G No ClinGen
TOPMed
CA1743343
rs759983127
70 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1470356977
CA347495194
71 R>Q No ClinGen
gnomAD
CA1743344
rs764731568
71 R>W No ClinGen
ExAC
gnomAD
rs1343692909
CA347495197
72 V>L No ClinGen
gnomAD
rs752163474
CA1743345
74 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA347495212
rs1430271703
74 R>W No ClinGen
gnomAD
CA1743347
rs763704524
75 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA347495215
rs758092721
75 E>K No ClinGen
ExAC
gnomAD
CA1743346
rs758092721
75 E>Q No ClinGen
ExAC
gnomAD
rs763704524
CA1743348
75 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs370005784
CA51741734
76 R>C No ClinGen
ESP
TOPMed
gnomAD
CA347495221
rs370005784
76 R>G No ClinGen
ESP
TOPMed
gnomAD
CA347495223
rs1220505044
76 R>P No ClinGen
gnomAD
CA1743350
rs781076069
78 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1743352
rs756071519
79 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1743353
rs779152840
80 E>D No ClinGen
ExAC
gnomAD
CA347495259
rs1419880209
81 D>E No ClinGen
gnomAD
rs1198360803
CA347495253
81 D>Y No ClinGen
gnomAD
rs748222143
CA1743354
82 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs748222143
CA347495264
82 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs773376009
CA1743357
84 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1743356
rs773376009
84 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs528791760
CA1743359
85 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs760067189
CA1743360
86 R>G No ClinGen
ExAC
gnomAD
CA347495287
rs1387700726
86 R>L No ClinGen
TOPMed
CA347495306
rs1403517286
89 R>L No ClinGen
gnomAD
rs1272232734
CA347495622
90 A>V No ClinGen
gnomAD
CA1743381
rs144774521
91 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775916424
CA347495644
94 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs775916424
CA1743383
94 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs763457651
CA1743384
94 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA347495647
rs1183224300
95 V>M No ClinGen
gnomAD
CA347495668
rs1473989847
98 E>Q No ClinGen
gnomAD
CA347495678
rs1206344999
99 D>A No ClinGen
TOPMed
CA347495679
rs1206344999
99 D>G No ClinGen
TOPMed
TCGA novel 99 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs151043919
CA1743388
100 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773871254
CA1743386
100 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1332859522
CA347495698
102 S>T No ClinGen
gnomAD
CA1743390
rs760611682
103 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 103 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766266447
CA1743391
106 P>L No ClinGen
ExAC
gnomAD
rs987036901
CA51742575
109 D>G No ClinGen
Ensembl
CA51742577
rs912785369
112 N>S No ClinGen
gnomAD
TCGA novel 113 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1558851707
CA347496053
115 V>L No ClinGen
Ensembl
CA347496072
rs1434335249
117 D>Y No ClinGen
TOPMed
rs776448033
CA1743410
126 I>S No ClinGen
ExAC
gnomAD
rs1450929860
CA347496225
126 I>V No ClinGen
gnomAD
rs186867317
CA1743412
127 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA51743083
rs536447039
128 L>I No ClinGen
Ensembl
CA1743415
rs767525144
141 K>N No ClinGen
ExAC
gnomAD
TCGA novel 143 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 146 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238236248
CA347497330
150 S>A No ClinGen
gnomAD
TCGA novel 151 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA51743740
rs879083407
151 H>Y No ClinGen
Ensembl
rs755427548
CA1743443
152 A>T No ClinGen
ExAC
gnomAD
CA347497357
rs1384178280
152 A>V No ClinGen
gnomAD
rs751498808
CA1743444
153 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1166623033
CA347497361
153 Y>H No ClinGen
gnomAD
rs1461418416
CA347497369
154 I>V No ClinGen
gnomAD
TCGA novel 155 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1313233722
CA347497457
165 L>P No ClinGen
gnomAD
rs1276941470
CA347497458
166 N>H No ClinGen
TOPMed
TCGA novel 171 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347497501
rs1306324707
172 F>L No ClinGen
gnomAD
TCGA novel 181 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347497576
rs1259192513
182 I>V No ClinGen
gnomAD
CA347497582
rs1558854424
183 D>N No ClinGen
Ensembl
TCGA novel 185 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347497621
rs1201179280
188 D>G No ClinGen
gnomAD
rs377622928
CA1743451
189 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1743452
rs745496090
190 T>A No ClinGen
ExAC
CA1743453
COSM3840160
rs769633859
190 T>M breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs144485583
CA1743465
192 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA347497860
rs1405499060
193 L>S No ClinGen
gnomAD
TCGA novel 194 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1399835730
CA347497890
195 P>S No ClinGen
gnomAD
CA347497901
rs1343009761
196 T>S No ClinGen
gnomAD
CA347497909
rs1274722377
197 F>S No ClinGen
gnomAD
CA347497918
rs1281736605
198 T>I No ClinGen
gnomAD
CA1743469
rs756852878
198 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1352483134
CA347497944
202 I>V No ClinGen
gnomAD
rs780512820
CA1743470
203 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA347497957
rs1390985790
204 N>D No ClinGen
gnomAD
CA347497955
rs1390985790
204 N>H No ClinGen
gnomAD
rs755397048
CA51744826
206 D>E No ClinGen
gnomAD
CA1743472
rs769278917
210 K>R No ClinGen
ExAC
TCGA novel 210 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768435215
CA1743475
213 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA347498046
rs1221677819
214 A>T No ClinGen
gnomAD
CA347498077
rs1378751674
216 D>G No ClinGen
gnomAD
CA1743478
rs370387517
217 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1323500306
CA347498117
220 Y>H No ClinGen
gnomAD
rs1449140867
CA347498145
222 P>L No ClinGen
TOPMed
rs1307612184
CA347498211
227 L>P No ClinGen
TOPMed
gnomAD
CA347498280
rs1305725553
233 N>S No ClinGen
TOPMed
CA347498320
rs1240432141
236 A>V No ClinGen
gnomAD
rs752122273
CA1743485
237 N>T No ClinGen
ExAC
gnomAD
CA347498344
rs1208978885
238 A>T No ClinGen
gnomAD
CA1743487
rs372123765
239 V>I No ClinGen
ESP
ExAC
gnomAD
rs903103286
CA51747768
242 A>P No ClinGen
TOPMed
rs1214164236
CA347498642
246 V>A No ClinGen
TOPMed
CA51747780
rs868268039
249 L>F No ClinGen
gnomAD
CA347498656
rs868268039
249 L>I No ClinGen
gnomAD
rs746933002
CA1743516
250 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1743515
rs777638540
250 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1743518
rs368012126
252 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA51747796
rs1051558799
252 Y>H No ClinGen
TOPMed
CA1743519
rs749540166
253 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA347498681
rs1362602818
253 F>S No ClinGen
gnomAD
TCGA novel 256 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769046464
CA1743520
259 Y>C No ClinGen
ExAC
gnomAD
rs769046464
CA347498726
259 Y>S No ClinGen
ExAC
gnomAD
CA347498750
rs1342884527
COSM3840162
262 I>M Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA1743522
rs201584124
262 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762147072
CA1743523
263 K>R No ClinGen
ExAC
gnomAD
rs762147072
CA51747812
263 K>T No ClinGen
ExAC
gnomAD
CA51747823
rs543640825
264 R>C No ClinGen
TOPMed
CA51747820
rs543640825
264 R>G No ClinGen
TOPMed
rs767910692
CA1743524
264 R>H No ClinGen
ExAC
gnomAD
rs1017293838
CA51747834
265 P>S No ClinGen
TOPMed
rs1444525840
CA347498765
266 P>T No ClinGen
gnomAD
rs1478427561
CA347498782
268 D>E No ClinGen
gnomAD
CA347498777
rs898859767
268 D>N No ClinGen
TOPMed
gnomAD
rs898859767
CA51747840
268 D>Y No ClinGen
TOPMed
gnomAD
CA347498798
rs1172277229
270 M>I No ClinGen
gnomAD
TCGA novel 270 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347498807
rs1344331804
271 F>L No ClinGen
TOPMed
rs773605164
CA1743525
272 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA1743526
rs761101414
274 V>I No ClinGen
ExAC
gnomAD
rs1573421113
CA347498849
278 G>R No ClinGen
Ensembl
CA347498859
rs1371747492
279 E>G No ClinGen
Ensembl
CA347498871
rs1341114649
281 M>T No ClinGen
gnomAD
rs1297328200
CA347498867
281 M>V No ClinGen
gnomAD
rs1480469963
CA347498919
287 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1743531
rs748592767
288 R>* No ClinGen
ExAC
gnomAD
CA347498921
COSM3840163
rs1476664894
288 R>Q Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA1743532
rs758188312
292 A>T No ClinGen
ExAC
gnomAD
CA1743535
rs757223057
305 L>V No ClinGen
ExAC
gnomAD
rs749417185
CA1743537
306 C>F No ClinGen
ExAC
gnomAD
rs374810446
CA1743536
306 C>R No ClinGen
ESP
ExAC
gnomAD
rs1432122760
CA347499068
309 K>T No ClinGen
gnomAD
rs1220746210
CA347499076
310 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 313 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1558862161
CA347499107
315 K>E No ClinGen
Ensembl
rs143539117
CA1743539
315 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA51751133
rs1045884040
317 G>E No ClinGen
gnomAD
rs1422924028
CA347499161
320 V>A No ClinGen
gnomAD
CA1743562
rs747415791
324 S>F No ClinGen
ExAC
gnomAD
rs374381478
CA51751157
325 W>R No ClinGen
ESP
TOPMed
rs771281301
CA1743563
327 L>V No ClinGen
ExAC
gnomAD
CA347499221
rs1311009123
329 A>V No ClinGen
gnomAD
CA347499230
rs1246165722
331 H>P No ClinGen
gnomAD
CA51751164
rs998576092
331 H>Q No ClinGen
Ensembl
rs1375428903
CA347499229
331 H>Y No ClinGen
Ensembl
rs1197426933
CA347499254
335 G>E No ClinGen
gnomAD
CA347499260
rs1558867219
336 G>V No ClinGen
Ensembl
rs200622671
CA1743566
338 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA1743567
COSM1023389
rs775028076
341 K>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA1743583
rs141157341
344 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411669550
CA347499343
347 D>H No ClinGen
gnomAD
TCGA novel 349 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1743584
rs560266348
350 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1358774403
CA347499381
352 S>C No ClinGen
gnomAD
CA347499384
rs1325941636
353 M>V No ClinGen
TOPMed
rs369544524
CA1743586
355 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA51752008
rs369544524
355 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA347499445
rs1244697357
361 P>L No ClinGen
TOPMed
gnomAD
CA347499442
rs1363479648
361 P>S No ClinGen
gnomAD
rs115043522
CA1743615
367 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1402201084
CA347499520
371 E>K No ClinGen
TOPMed
gnomAD
CA1743617
rs750594033
374 L>R No ClinGen
ExAC
gnomAD
CA51753361
rs867992804
375 H>Y No ClinGen
Ensembl
CA347499567
rs1378655227
377 D>G No ClinGen
gnomAD
CA347499563
rs1558870030
377 D>N No ClinGen
Ensembl
TCGA novel 380 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA51753371
rs372439936
380 Q>R No ClinGen
ESP
TOPMed
gnomAD
CA1743618
rs756512545
381 E>* No ClinGen
ExAC
gnomAD
CA1743619
rs756512545
381 E>Q No ClinGen
ExAC
gnomAD
CA1743620
rs200081633
382 T>A No ClinGen
ExAC
gnomAD
CA1743621
rs555765963
383 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1743623
rs747700719
386 S>A No ClinGen
ExAC
gnomAD
rs771705876
CA1743624
386 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA347499635
rs1353915240
387 T>S No ClinGen
gnomAD
rs1290447517
CA347499650
CA347499651
389 M>I No ClinGen
gnomAD
CA1743625
rs374156240
389 M>K No ClinGen
ESP
ExAC
gnomAD
CA1743626
rs374156240
389 M>T No ClinGen
ESP
ExAC
gnomAD
rs1573441190
CA347499655
390 Y>S No ClinGen
Ensembl
rs200865646
CA347499666
392 T>A No ClinGen
1000Genomes
TOPMed
CA347499669
rs1335584714
392 T>M No ClinGen
gnomAD
rs200865646
CA51753392
392 T>S No ClinGen
1000Genomes
TOPMed
CA1743627
rs770765564
393 L>R No ClinGen
ExAC
gnomAD
CA347499684
rs1477416742
395 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA347499692
rs1558870182
396 P>L No ClinGen
Ensembl
rs892119074
CA347499695
397 T>A No ClinGen
TOPMed
gnomAD
CA51753397
rs892119074
397 T>S No ClinGen
TOPMed
gnomAD
CA1743631
rs759494754
403 D>N No ClinGen
ExAC
gnomAD
CA51753420
rs1001196152
403 D>V No ClinGen
Ensembl
rs1462608730
CA347499771
408 L>I No ClinGen
gnomAD
CA347499772
rs1462608730
408 L>V No ClinGen
gnomAD
rs1167903660
CA347499811
414 P>S No ClinGen
gnomAD
CA1743636
rs750660001
417 N>S No ClinGen
ExAC
gnomAD
CA347499857
rs1338509718
421 K>E No ClinGen
gnomAD
CA347499868
rs1276685816
422 F>S No ClinGen
TOPMed
CA347499878
rs1357262854
423 N>K No ClinGen
gnomAD
CA1743638
rs533368995
423 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1362915202
CA347499882
424 G>D No ClinGen
TOPMed
CA347499888
rs1296732427
425 I>T No ClinGen
TOPMed
rs754301836
CA1743639
426 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs775677730
CA51753440
426 T>N No ClinGen
Ensembl
TCGA novel 428 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347499945
rs1303852696
431 K>N No ClinGen
TOPMed
CA347500008
rs1385536651
440 R>C No ClinGen
gnomAD
rs137957308
CA1743666
440 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1329352584
CA347500025
442 Q>H No ClinGen
TOPMed
gnomAD
CA347500034
rs1382312988
444 T>A No ClinGen
TOPMed
rs1233866690
CA347500043
445 K>R No ClinGen
gnomAD
rs1558872040
CA347500059
447 P>L No ClinGen
Ensembl
TCGA novel 451 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347500082
rs1350543708
451 I>N No ClinGen
gnomAD
CA347500098
rs1285992369
453 C>S No ClinGen
gnomAD
CA347500097
rs1285992369
453 C>Y No ClinGen
gnomAD
rs1206444418
CA347500113
455 K>R No ClinGen
gnomAD
rs1044660
CA51754529
456 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1450479837
CA347500155
461 N>Y No ClinGen
TOPMed
gnomAD
TCGA novel 462 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779781605
CA51754536
464 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs779781605
CA1743671
464 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1437634529
CA347500200
467 N>T No ClinGen
gnomAD
CA347500253
rs1350251931
475 I>V No ClinGen
gnomAD
rs749242731
CA1743672
476 T>I No ClinGen
ExAC
TOPMed
gnomAD
COSM1023392
rs1558875194
CA347500287
478 V>A Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA1743693
rs778773531
478 V>L No ClinGen
ExAC
gnomAD
rs778773531
CA347500284
478 V>M No ClinGen
ExAC
gnomAD
CA347500298
rs1233427114
480 L>V No ClinGen
gnomAD
rs748061552
CA1743694
483 Y>H No ClinGen
ExAC
gnomAD
CA347500332
rs1315465908
485 S>P No ClinGen
gnomAD
CA51756386
rs1038050515
489 Q>L No ClinGen
Ensembl
rs904894205
CA347500392
493 K>N No ClinGen
gnomAD
CA347500399
rs1251491102
494 N>K No ClinGen
gnomAD
rs1002276033
CA51756394
495 T>S No ClinGen
gnomAD
CA51756398
rs374640624
497 Y>C No ClinGen
ESP
TOPMed
rs1179880468
CA347500437
500 I>T No ClinGen
gnomAD
CA1743695
rs771140022
501 A>G No ClinGen
ExAC
TOPMed
CA347500460
rs1255458174
504 V>M No ClinGen
gnomAD
CA347500469
rs1475493159
505 H>P No ClinGen
gnomAD
rs867164533
COSM248250
CA51756401
507 G>D prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA1743697
rs762640231
507 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1426823789
CA347500489
508 K>R No ClinGen
TOPMed
rs770193348
CA1743698
509 P>S No ClinGen
ExAC
gnomAD
rs763297712
CA1743700
511 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs763297712
CA347500505
511 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1408711602
CA347500522
513 S>C No ClinGen
TOPMed
rs749981625
CA1743706
515 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA1743705
rs749981625
515 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs143344250
CA1743703
COSM288992
515 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA51756434
rs967436008
516 I>L No ClinGen
TOPMed
TCGA novel 518 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347500556
rs1258573634
519 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs753514207
CA1743708
521 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA347500592
rs1192024388
522 G>V No ClinGen
gnomAD
TCGA novel 533 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372217346
CA1743732
535 T>I No ClinGen
ESP
ExAC
CA347500705
rs372217346
535 T>S No ClinGen
ESP
ExAC
rs1573457302
CA347500733
539 P>L No ClinGen
Ensembl
CA347500748
rs1405966161
541 M>L No ClinGen
gnomAD
rs1379076001
CA347500796
545 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1305288756
CA347500818
547 A>V No ClinGen
gnomAD
rs981604053
CA51757781
550 Q>L No ClinGen
TOPMed
rs755005706
CA1743753
555 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA347482078
rs369097755
555 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1743754
rs369097755
555 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA347482100
rs1281262749
557 N>D No ClinGen
TOPMed
gnomAD
CA1743756
rs758766897
558 D>E No ClinGen
ExAC
gnomAD
rs1215382435
CA347482139
560 T>N No ClinGen
TOPMed
CA1743757
rs375627272
561 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756086990
CA51743819
561 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs747537055
CA1743758
561 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA51743824
rs1026564235
562 Q>* No ClinGen
Ensembl
CA347482156
rs1026564235
562 Q>E No ClinGen
Ensembl
CA347482158
rs1352324052
562 Q>L No ClinGen
TOPMed
rs1300704073
CA347482176
563 Q>H No ClinGen
TOPMed
CA347482182
rs1372414100
564 G>E No ClinGen
TOPMed
rs371581754
CA1743761
COSM95477
CA1743762
564 G>R ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q53GS9

3 regional properties for Q53GS9

Type Name Position InterPro Accession
domain Peptidase C19, ubiquitin carboxyl-terminal hydrolase 225 - 550 IPR001394
domain Zinc finger, UBP-type 103 - 200 IPR001607
domain Ubiquitin specific protease domain 225 - 555 IPR028889

Functions

Description
EC Number 3.4.19.12 Omega peptidases
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
spliceosomal complex Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U4/U6 x U5 tri-snRNP complex A ribonucleoprotein complex that is formed by the association of the U4/U6 and U5 snRNPs.

1 GO annotations of molecular function

Name Definition
zinc ion binding Binding to a zinc ion (Zn).

7 GO annotations of biological process

Name Definition
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
mRNA processing Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
mRNA splicing, via spliceosome The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
protein deubiquitination The removal of one or more ubiquitin groups from a protein.
RNA splicing The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.
spliceosomal complex assembly The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9Y2K6 USP20 Ubiquitin carboxyl-terminal hydrolase 20 Homo sapiens (Human) PR
P51784 USP11 Ubiquitin carboxyl-terminal hydrolase 11 Homo sapiens (Human) PR
P40818 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Homo sapiens (Human) PR
O75604 USP2 Ubiquitin carboxyl-terminal hydrolase 2 Homo sapiens (Human) PR
Q3TIX9 Usp39 U4/U6.U5 tri-snRNP-associated protein 2 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSGRSKRESR GSTRGKRESE SRGSSGRVKR ERDREREPEA ASSRGSPVRV KREFEPASAR
70 80 90 100 110 120
EAPASVVPFV RVKREREVDE DSEPEREVRA KNGRVDSEDR RSRHCPYLDT INRSVLDFDF
130 140 150 160 170 180
EKLCSISLSH INAYACLVCG KYFQGRGLKS HAYIHSVQFS HHVFLNLHTL KFYCLPDNYE
190 200 210 220 230 240
IIDSSLEDIT YVLKPTFTKQ QIANLDKQAK LSRAYDGTTY LPGIVGLNNI KANDYANAVL
250 260 270 280 290 300
QALSNVPPLR NYFLEEDNYK NIKRPPGDIM FLLVQRFGEL MRKLWNPRNF KAHVSPHEML
310 320 330 340 350 360
QAVVLCSKKT FQITKQGDGV DFLSWFLNAL HSALGGTKKK KKTIVTDVFQ GSMRIFTKKL
370 380 390 400 410 420
PHPDLPAEEK EQLLHNDEYQ ETMVESTFMY LTLDLPTAPL YKDEKEQLII PQVPLFNILA
430 440 450 460 470 480
KFNGITEKEY KTYKENFLKR FQLTKLPPYL IFCIKRFTKN NFFVEKNPTI VNFPITNVDL
490 500 510 520 530 540
REYLSEEVQA VHKNTTYDLI ANIVHDGKPS EGSYRIHVLH HGTGKWYELQ DLQVTDILPQ
550 560
MITLSEAYIQ IWKRRDNDET NQQGA