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 Q8N9U0

Entry ID Method Resolution Chain Position Source
AF-Q8N9U0-F1 Predicted AlphaFoldDB

368 variants for Q8N9U0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA390641773
rs780636738
2 A>S No ClinGen
ExAC
gnomAD
rs780636738
CA7312541
2 A>T No ExAC
gnomAD
ClinGen
CA7312540
rs755819431
3 T>A No ClinGen
ExAC
gnomAD
CA390641742
rs1566774875
6 I>M No ClinGen
Ensembl
CA390641747
rs1165921458
6 I>V No ClinGen
gnomAD
CA7312538
rs139717838
8 S>C No ESP
ExAC
gnomAD
ClinGen
CA7312537
rs756737332
8 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 9 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390641724
rs1238497210
9 C>Y No ClinGen
gnomAD
CA265590918
rs200352219
11 G>R No ClinGen
1000Genomes
rs1484878021
CA390641694
13 C>* No gnomAD
ClinGen
CA7312536
rs751128627
14 F>L No ClinGen
ExAC
gnomAD
CA7312535
rs763905181
15 Y>C No ExAC
TOPMed
gnomAD
ClinGen
CA390641660
rs1210888244
18 T>R No ClinGen
TOPMed
CA7312514
rs758273122
23 F>S No ExAC
gnomAD
ClinGen
CA390641594
rs1453380537
26 E>G No gnomAD
ClinGen
CA7312513
rs202221563
26 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA265590620
rs202221563
26 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs375859017
CA7312512
28 D>N No ClinGen
ESP
ExAC
gnomAD
rs1566774168
CA390641567
30 K>Q No ClinGen
Ensembl
rs1459947556
CA390641554
31 A>V No ClinGen
gnomAD
rs1000304434
CA265590612
32 A>V No TOPMed
ClinGen
CA7312507
rs762164299
34 P>L No ClinGen
ExAC
gnomAD
CA7312508
rs554194068
34 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1184380448
CA390641538
35 N>D No ClinGen
gnomAD
rs774285721
CA7312506
35 N>S No ExAC
gnomAD
ClinGen
rs1194433670
CA390641269
36 S>T No gnomAD
ClinGen
CA7312503
rs763510275
40 T>A No ClinGen
ExAC
gnomAD
rs372859438
CA265590584
41 I>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs147433751
CA7312501
41 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7312502
rs776159783
41 I>V No ExAC
gnomAD
ClinGen
rs1293250321
CA390641233
42 S>P No gnomAD
ClinGen
rs79795065
CA7312496
43 V>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7312497
rs746686214
43 V>I No ExAC
TOPMed
gnomAD
ClinGen
CA7312498
rs746686214
43 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1595246587
CA390641195
48 S>F No ClinGen
Ensembl
TCGA novel 48 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390641186
rs1395390164
49 V>A No TOPMed
ClinGen
CA390641156
rs1393878593
52 K>T No gnomAD
ClinGen
rs574082858
CA7312494
53 P>S No ExAC
gnomAD
ClinGen
rs748031394
CA7312493
54 Q>* No ClinGen
ExAC
gnomAD
rs139475001
CA7312492
54 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754951866
CA7312491
57 C>G No ExAC
gnomAD
ClinGen
rs1357499190
CA390641076
58 T>S No ClinGen
TOPMed
CA390641032
rs1425362638
61 Y>* No ClinGen
gnomAD
CA7312490
rs753573289
63 L>P No ClinGen
ExAC
gnomAD
CA390641002
rs1251878692
64 S>A No gnomAD
ClinGen
rs757367798
CA7312488
65 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs150531793
CA7312487
67 P>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7312486
rs764217238
69 D>G No ExAC
gnomAD
ClinGen
CA265590544
rs888535568
70 G>D No ClinGen
gnomAD
CA7312485
rs141703111
70 G>S No ESP
ExAC
gnomAD
ClinGen
rs565871926
CA390640893
73 V>I No 1000Genomes
ExAC
gnomAD
ClinGen
CA7312484
rs565871926
73 V>L No 1000Genomes
ExAC
gnomAD
ClinGen
rs201030077
CA7312482
74 P>R No ExAC
gnomAD
ClinGen
rs558832058
CA7312483
74 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776802434
CA7312481
75 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs771329749
CA7312480
77 V>M No ExAC
gnomAD
ClinGen
CA390640835
rs1475926812
78 P>R No TOPMed
ClinGen
CA265590535
rs185985333
84 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1326608121
CA390640755
84 Y>C No gnomAD
ClinGen
CA390640724
rs1253899559
86 Q>H No ClinGen
Ensembl
CA265590534
rs369058411
86 Q>R No ClinGen
ESP
TOPMed
gnomAD
CA265590533
rs550260692
87 P>L No gnomAD
ClinGen
rs1178646184
CA390640717
87 P>S No ClinGen
gnomAD
TCGA novel 88 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1357285206
CA390640694
89 T>A No TOPMed
ClinGen
rs771761921
CA7312476
90 Q>P No ClinGen
ExAC
gnomAD
rs747628599
CA7312475
91 E>D No ClinGen
ExAC
gnomAD
CA390640651
rs1303396378
92 T>I No TOPMed
ClinGen
CA265590525
rs920354679
92 T>S No ClinGen
TOPMed
gnomAD
CA390640645
rs1394789081
93 P>S No TOPMed
gnomAD
ClinGen
rs778464496
CA7312474
95 H>L No ClinGen
ExAC
gnomAD
CA265590517
rs866383027
97 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA7312473
rs768467459
98 E>Q No ExAC
TOPMed
gnomAD
ClinGen
rs749265861
CA7312472
99 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs779651939
CA7312471
99 L>P No ClinGen
ExAC
gnomAD
rs557759696
CA7312453
101 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1351109805
CA390640552
101 G>R No ClinGen
TOPMed
rs745652162
CA7312451
105 A>V No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 106 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781189272
CA7312450
107 F>L No ExAC
gnomAD
ClinGen
CA390639512
rs1195566432
107 F>S No gnomAD
ClinGen
CA390639489
rs1445555133
109 D>G No gnomAD
ClinGen
rs537836079
CA7312449
110 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748384310
CA390639475
110 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA390639477
rs748384310
110 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs748384310
CA7312448
110 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA7312447
rs779095734
112 V>I No ExAC
gnomAD
ClinGen
CA390639440
rs1462448031
113 E>A No TOPMed
ClinGen
CA390639414
rs1467296885
115 S>P No ClinGen
gnomAD
rs1566768174
CA390639410
115 S>Y No ClinGen
Ensembl
rs1233252497
CA390639405
116 S>G No gnomAD
ClinGen
rs1319007121
CA390639401
116 S>N No ClinGen
gnomAD
CA7312445
rs753914307
118 S>F No ExAC
gnomAD
ClinGen
CA7312444
rs766880081
119 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7312442
rs756647636
121 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7312441
rs142964113
122 P>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs767885292
CA7312440
122 P>R No ExAC
TOPMed
gnomAD
ClinGen
rs142964113
CA390639328
122 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs941297759
CA265588031
124 Y>C No TOPMed
ClinGen
rs1396074932
CA390639303
124 Y>H No gnomAD
ClinGen
CA390639280
rs1230265357
125 D>G No ClinGen
TOPMed
CA265588030
rs909764133
125 D>Y No TOPMed
ClinGen
TCGA novel 126 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7312437
rs376970504
126 V>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1474311421
CA390639246
127 Y>* No ClinGen
gnomAD
rs774028396
CA7312436
127 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA7312435
rs138457902
131 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA390639201
rs1194536439
131 Y>H No gnomAD
ClinGen
rs774926515
CA7312433
132 M>I No ExAC
gnomAD
ClinGen
CA7312434
rs762491036
132 M>T No ClinGen
ExAC
gnomAD
rs1251270204
CA390639186
132 M>V No ClinGen
TOPMed
gnomAD
CA7312432
rs536097108
133 Y>C No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA390639124
rs1194383785
136 I>F No TOPMed
gnomAD
ClinGen
rs1277648268
CA390639091
139 D>N No ClinGen
gnomAD
rs372697292
CA265588028
140 L>F No ClinGen
ESP
gnomAD
CA265588029
rs1003249640
140 L>V No Ensembl
ClinGen
CA390639060
rs1269190100
141 S>N No gnomAD
ClinGen
CA390639050
rs745811695
142 R>* No ExAC
TOPMed
gnomAD
ClinGen
CA390639051
rs745811695
142 R>G No ExAC
TOPMed
gnomAD
ClinGen
CA265588027
rs536300405
142 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7312430
rs536300405
142 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143829621
COSM1707720
COSM1707721
CA7312428
143 R>C skin [Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs143829621
CA7312429
143 R>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs779174077
CA7312427
143 R>P No ExAC
gnomAD
ClinGen
rs1386170219
CA390639031
144 F>S No ClinGen
TOPMed
rs1384224520
CA390639020
145 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
CA390639014
rs1330837548
146 P>A No TOPMed
gnomAD
ClinGen
CA390639010
rs1330837548
146 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs780058675
CA7312424
147 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7312423
rs756558535
147 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA390638985
rs1455789181
148 S>* No ClinGen
gnomAD
rs2402073
CA7312422
151 K>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390638952
rs2402073
151 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs2402073
CA7312421
VAR_051405
151 K>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs762568059 156 S>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
COSM958784
CA7312417
rs377688531
COSM198287
156 S>L Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390638848
rs1399350490
160 L>S No TOPMed
ClinGen
rs202092907
CA390638839
161 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7312397
rs145728231
162 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7312395
rs764754584
163 N>K No ClinGen
ExAC
gnomAD
CA265587823
rs190774298
163 N>S No ClinGen
1000Genomes
rs759095524
CA7312394
165 L>I No ClinGen
ExAC
gnomAD
rs753439112
CA7312393
165 L>P No ExAC
TOPMed
gnomAD
ClinGen
CA7312390
rs371282197
167 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390638800
rs1257317408
168 S>F No ClinGen
gnomAD
rs771770694
CA7312389
169 P>L No ClinGen
ExAC
gnomAD
CA390638787
rs1243490404
170 G>V No TOPMed
gnomAD
ClinGen
rs1486027340
CA390638790
170 G>W No TOPMed
gnomAD
ClinGen
rs1212960267
CA390638779
172 S>C No ClinGen
gnomAD
CA7312387
rs8020529
VAR_051406
172 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
CA390638771
rs1212995684
173 K>R No TOPMed
gnomAD
ClinGen
CA7312384
rs745940789
175 M>I No ClinGen
ExAC
gnomAD
CA390638757
rs1235106800
175 M>T No ClinGen
gnomAD
CA7312385
rs770038436
175 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs781304170
CA7312383
176 F>C No ExAC
gnomAD
ClinGen
CA7312379
rs778158810
181 S>L No ExAC
ClinGen
CA7312378
rs758711373
182 S>P No ExAC
gnomAD
ClinGen
CA7312376
rs77995634
184 R>* No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs77995634
CA7312375
184 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7312374
rs753392127
184 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765990430
CA7312373
186 I>L No ExAC
gnomAD
ClinGen
CA7312372
rs760600963
187 Q>R No ExAC
gnomAD
ClinGen
CA7312353
rs552579246
189 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1481479557
CA390638646
190 D>E No gnomAD
ClinGen
CA7312352
rs757290653
190 D>V No ClinGen
ExAC
gnomAD
rs1249461265
CA390638628
193 S>C No ClinGen
gnomAD
CA7312350
rs763893277
194 S>I No ClinGen
ExAC
gnomAD
CA390638621
rs763893277
194 S>T No ExAC
gnomAD
ClinGen
rs776871664
CA7312348
197 S>T No ClinGen
ExAC
gnomAD
rs1308304273
CA390638598
198 S>G No ClinGen
gnomAD
CA7312346
rs367718278
198 S>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
COSM3815524
COSM3815523
rs1468989691
CA390638589
199 S>C Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
COSM3815526
CA7312345
COSM3815525
rs773399002
199 S>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA265587714
rs142486800
202 R>G No ESP
gnomAD
ClinGen
CA390638572
rs1375617114
202 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1175151014
CA390638558
204 N>T No ClinGen
gnomAD
rs1464070904
CA390638534
207 G>A No ClinGen
TOPMed
gnomAD
rs968920717
CA265587711
208 S>N No TOPMed
ClinGen
CA265587710
rs1021931875
209 N>Y No TOPMed
ClinGen
rs1159727908
CA390638511
211 S>G No ClinGen
gnomAD
rs1420877223
CA390638497
213 D>N No gnomAD
ClinGen
rs767646723
CA7312324
219 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs755935249
CA265587663
220 D>N No Ensembl
ClinGen
rs867522823
CA390638436
221 E>* No TOPMed
ClinGen
CA265587662
rs867522823
221 E>K No ClinGen
TOPMed
CA7312322
rs775026958
223 D>G No ClinGen
ExAC
CA7312323
rs747451487
223 D>N No ClinGen
ExAC
gnomAD
CA7312320
rs763383060
CA7312321
225 G>R No ClinGen
ExAC
gnomAD
rs374483479
CA7312319
228 N>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs769266798
CA7312318
230 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA7312317
rs745549759
232 F>C No ExAC
gnomAD
ClinGen
CA390638364
rs1270542591
232 F>V No TOPMed
ClinGen
rs199769186
CA7312316
234 N>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1182379812
CA390638342
235 S>A No ClinGen
TOPMed
rs1161177333
CA390638333
236 S>L No ClinGen
gnomAD
CA390638323
rs1485961242
238 E>G No gnomAD
ClinGen
CA7312315
rs770507706
238 E>Q No ClinGen
ExAC
gnomAD
rs1024103159
CA265587660
239 Q>K No ClinGen
Ensembl
rs746563776
CA7312314
244 V>L No ExAC
gnomAD
ClinGen
rs1195640609
CA390638267
246 Q>L No ClinGen
TOPMed
gnomAD
rs1195640609
CA390638268
246 Q>R No ClinGen
TOPMed
gnomAD
rs1275618661
CA390638222
250 L>F No ClinGen
gnomAD
rs1206852807
CA390638217
251 S>T No ClinGen
gnomAD
CA7312299
rs776318371
253 P>H No ExAC
gnomAD
ClinGen
CA265587629
rs931946367
253 P>S No TOPMed
ClinGen
CA7312297
rs746510540
254 S>C No ExAC
gnomAD
ClinGen
CA7312295
rs777331799
255 S>N No ClinGen
ExAC
gnomAD
rs1435735585
CA390638189
255 S>R No ClinGen
gnomAD
CA390638184
rs1245501395
256 Y>S No ClinGen
TOPMed
CA7312294
rs771929578
258 D>E No ClinGen
ExAC
gnomAD
CA7312293
rs748088959
260 P>A No ExAC
gnomAD
ClinGen
CA7312292
rs778522109
260 P>L No ExAC
gnomAD
ClinGen
rs917083456
CA390638157
261 T>A No ClinGen
gnomAD
rs917083456
CA265587628
261 T>P No ClinGen
gnomAD
rs139681768
CA7312291
261 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390638140
rs1414800254
264 I>V No ClinGen
gnomAD
rs781450742
CA7312289
265 K>E No ClinGen
ExAC
gnomAD
rs1362672818
CA390638118
267 I>T No TOPMed
ClinGen
CA7312288
rs368275104
267 I>V No ESP
ExAC
gnomAD
ClinGen
rs958723063
CA265587627
271 P>A No ClinGen
gnomAD
CA390638078
rs1313419132
273 P>L No ClinGen
gnomAD
CA7312286
rs751626923
274 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1403689362
CA390638043
278 S>F No TOPMed
ClinGen
rs1281234810
CA390638040
279 S>* No gnomAD
ClinGen
rs374405520
CA7312284
279 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1226302534
CA390638037
280 A>T No ClinGen
gnomAD
rs753281013
CA7312283
281 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 282 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370707983
CA265587626
283 G>V No ESP
TOPMed
gnomAD
ClinGen
rs1389562719
CA390638011
284 S>P No TOPMed
ClinGen
CA7312282
rs572770511
285 N>S No 1000Genomes
ExAC
gnomAD
ClinGen
rs376362787
CA7312248
288 E>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA390637954
rs1233396591
290 M>K No TOPMed
gnomAD
ClinGen
CA7312246
rs754165927
291 E>K No ExAC
gnomAD
ClinGen
COSM3793951
CA7312245
rs756200562
292 T>M Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 294 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772881044
CA7312243
297 I>V No ExAC
gnomAD
ClinGen
rs1372298636
CA390637892
299 L>P No gnomAD
ClinGen
rs773787044
CA7312240
303 Q>L No ExAC
gnomAD
ClinGen
CA390637855
rs1228807459
305 V>I No TOPMed
ClinGen
rs571299219
CA7312238
306 R>* No 1000Genomes
ExAC
gnomAD
ClinGen
CA7312236
rs374760333
311 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142235862
CA265586765
311 I>V No ESP
gnomAD
ClinGen
rs1192897278
CA390637796
314 Q>E No gnomAD
ClinGen
rs745701285
CA7312235
316 P>T No ExAC
gnomAD
ClinGen
rs974985910
CA265586764
317 R>G No Ensembl
ClinGen
rs772242830
CA7312233
318 K>R No ClinGen
ExAC
gnomAD
CA390637748
rs148609061
321 I>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7312231
rs148609061
321 I>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1209227263
CA390637739
323 E>K No ClinGen
TOPMed
rs199529675
CA7312230
324 C>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7312227
rs143905545
326 M>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 329 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 332 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 334 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7312225
rs767140861
336 M>I No ClinGen
ExAC
gnomAD
rs761435392
CA7312224
337 D>E No ClinGen
ExAC
gnomAD
CA7312223
rs751011101
338 Y>C No ExAC
TOPMed
gnomAD
ClinGen
CA390637623
rs1595224745
339 S>C No ClinGen
Ensembl
rs374402889
CA265586760
340 L>F No ESP
TOPMed
gnomAD
ClinGen
rs763537927
CA7312222
341 D>A No ClinGen
ExAC
gnomAD
rs1178124123
CA390637605
342 I>K No ClinGen
TOPMed
gnomAD
CA265586759
rs984905530
344 P>L No Ensembl
ClinGen
CA7312221
rs369806219
344 P>T No ClinGen
ESP
ExAC
TOPMed
CA7312220
rs775540419
345 P>R No ClinGen
ExAC
gnomAD
rs769904377
CA7312219
347 K>E No ExAC
gnomAD
ClinGen
rs1483930340
CA390637576
347 K>I No gnomAD
ClinGen
CA7312218
rs759393076
347 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1467741035
CA390635741
351 C>Y No ClinGen
TOPMed
gnomAD
CA7312198
rs770652649
352 H>R No ClinGen
ExAC
gnomAD
rs1393756937
CA390635735
352 H>Y No gnomAD
ClinGen
CA390635723
rs1458819180
354 E>Q No ClinGen
TOPMed
gnomAD
rs774403982
CA7312196
355 L>F No ClinGen
ExAC
gnomAD
rs144110131
CA7312195
356 E>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1370375647
CA390635700
357 L>W No ClinGen
gnomAD
CA390635694
rs1185742369
358 G>E No gnomAD
ClinGen
CA390635673
rs1262594210
361 F>S No TOPMed
gnomAD
ClinGen
CA7312191
rs746384085
364 V>A No ClinGen
ExAC
gnomAD
rs770214760
CA7312192
364 V>I No ExAC
gnomAD
ClinGen
rs1214654358
CA390635619
369 Q>* No ClinGen
gnomAD
CA7312190
rs781583837
373 L>P No ClinGen
ExAC
gnomAD
CA7312188
rs747458553
376 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA7312189
rs757535898
376 R>W No ClinGen
ExAC
gnomAD
rs890065992
CA265626797
377 Y>C No ClinGen
TOPMed
CA390635547
rs1297605380
380 S>N No ClinGen
gnomAD
CA390635544
rs1456209686
380 S>R No ClinGen
TOPMed
rs777281063
CA7312187
381 S>L No ClinGen
ExAC
gnomAD
rs1001095772
CA265626790
383 T>I No ClinGen
TOPMed
gnomAD
rs962757910
CA265626784
384 P>L No Ensembl
ClinGen
CA390635483
rs1427877615
389 F>I No TOPMed
gnomAD
ClinGen
CA7312164
rs146216998
391 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA265625182
rs146216998
391 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs778204134
CA390635454
393 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7312162
rs778204134
393 V>M No ExAC
TOPMed
gnomAD
ClinGen
COSM1707716
CA7312161
rs758068918
394 G>R Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA7312160
rs747827387
395 M>I No ExAC
gnomAD
ClinGen
rs375980729
CA7312159
398 S>L No ExAC
gnomAD
ClinGen
rs753436538
CA7312157
399 G>E No ClinGen
ExAC
gnomAD
rs1194021947
CA390635415
399 G>R No gnomAD
ClinGen
rs919281585
CA265625140
403 Y>H No ClinGen
TOPMed
rs1271760457
CA390635381
404 K>E No gnomAD
ClinGen
CA390635376
rs1219309904
404 K>N No gnomAD
ClinGen
CA265625135
rs981438363
404 K>R No Ensembl
ClinGen
CA7312156
rs766212900
406 K>R No ExAC
gnomAD
ClinGen
rs1399872601
CA390635358
407 T>S No ClinGen
TOPMed
rs750114377
CA7312154
408 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs767310568
CA7312152
408 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750114377
CA7312153
408 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 410 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763109248
CA7312151
410 L>Q No ClinGen
ExAC
rs917844629
CA265625091
412 A>T No Ensembl
ClinGen
rs775661716
CA7312150
413 S>C No ClinGen
ExAC
gnomAD
rs1566758676
CA390635319
414 N>D No ClinGen
Ensembl
CA265625074
rs991120883
414 N>S No ClinGen
TOPMed
gnomAD
CA390635290
rs1334845390
418 K>R No ClinGen
gnomAD
rs1400639900
CA390635279
419 W>* No gnomAD
ClinGen
rs765494134
CA7312149
419 W>L No ClinGen
ExAC
gnomAD
CA265625033
rs759603073
420 G>E No ExAC
TOPMed
gnomAD
ClinGen
CA7312148
rs759603073
420 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA7312147
rs776840697
422 T>I No ExAC
gnomAD
ClinGen
rs1414728185
CA390635261
423 M>L No ClinGen
gnomAD
rs959249741
CA265625011
424 I>V No Ensembl
ClinGen
CA265625010
rs866520695
426 P>S No Ensembl
ClinGen
rs201731267
CA7312145
427 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772597714
CA7312143
428 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA390635220
rs1595217216
429 Q>* No ClinGen
Ensembl
CA390635215
rs1443675934
429 Q>H No gnomAD
ClinGen
CA390635218
rs1210729446
429 Q>R No ClinGen
TOPMed
rs141598484
CA7312141
430 S>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs994860688
CA265624968
431 E>K No TOPMed
ClinGen
rs748743088
CA7312139
434 I>T No ExAC
ClinGen
rs899344128
CA265624961
437 L>P No TOPMed
ClinGen
CA390635148
rs1329595303
439 K>R No gnomAD
ClinGen
CA7312138
rs779616523
441 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1566758524
CA390635130
442 S>G No ClinGen
Ensembl
CA390635122
COSM958774
rs1350050903
443 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA7312136
COSM3690239
rs117153533
443 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA7312135
rs781151311
444 S>T No ClinGen
ExAC
gnomAD
rs1017872566
CA265624951
446 V>A No Ensembl
ClinGen
rs1005167334
CA265624953
446 V>L No TOPMed
ClinGen
rs751418321
CA7312133
451 F>L No ClinGen
ExAC
gnomAD
CA7312132
rs765444411
453 G>V No ExAC
TOPMed
gnomAD
ClinGen
CA390635047
rs1457069437
454 Q>H No gnomAD
ClinGen
CA390634911
rs1459350396
456 W>* No TOPMed
ClinGen
CA265623453
rs368943641
457 I>M No ClinGen
ESP
gnomAD
CA7312111
rs766550828
457 I>V No ExAC
TOPMed
gnomAD
ClinGen
CA7312110
rs750587345
458 S>I No ExAC
TOPMed
gnomAD
ClinGen
rs750587345
CA7312109
458 S>N No ExAC
TOPMed
gnomAD
ClinGen
rs924749261
COSM553987
CA265623445
459 E>K lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA265623443
rs978892902
460 D>N No ClinGen
gnomAD
rs144878256
CA7312108
461 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762413205
CA7312107
462 N>D No ClinGen
ExAC
CA7312106
rs201434498
466 A>T No ExAC
gnomAD
ClinGen
rs772842267
CA265623436
468 N>S No ClinGen
TOPMed
rs1368919852
CA390634743
469 Q>E No ClinGen
gnomAD
rs762469871
CA7312104
469 Q>L No ExAC
gnomAD
ClinGen
CA390634716
rs1434784889
471 K>Q No gnomAD
ClinGen
rs775189452
CA7312103
472 E>Q No ExAC
gnomAD
ClinGen
rs1302190235
CA390634692
473 T>A No gnomAD
ClinGen
rs1166636221
CA390634682
474 V>A No ClinGen
gnomAD
CA7312100
rs745382667
475 I>V No ExAC
gnomAD
ClinGen
CA7312099
rs200352735
477 P>A No ExAC
TOPMed
gnomAD
ClinGen
CA7312098
rs143214889
479 K>E No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA7312097
rs746972005
482 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs777506798
CA7312096
486 K>R No ExAC
gnomAD
ClinGen
CA7312095
rs758182485
490 S>P No ExAC
gnomAD
ClinGen

No associated diseases with Q8N9U0

4 regional properties for Q8N9U0

Type Name Position InterPro Accession
domain C2 domain 223 - 342 IPR000008-1
domain C2 domain 344 - 473 IPR000008-2
domain Tandem C2 domains nuclear protein, C2A domain 240 - 342 IPR037786
domain Tandem C2 domains nuclear protein, C2B domain 353 - 487 IPR037788

Functions

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

1 GO annotations of cellular component

Name Definition
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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

45 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P48018 SYT1 Synaptotagmin-1 Bos taurus (Bovine) PR
P21521 Syt1 Synaptotagmin 1 Drosophila melanogaster (Fruit fly) PR
Q7L8C5 SYT13 Synaptotagmin-13 Homo sapiens (Human) PR
Q6XYQ8 SYT10 Synaptotagmin-10 Homo sapiens (Human) PR
Q9H2B2 SYT4 Synaptotagmin-4 Homo sapiens (Human) PR
P21579 SYT1 Synaptotagmin-1 Homo sapiens (Human) PR
Q86XP0 PLA2G4D Cytosolic phospholipase A2 delta Homo sapiens (Human) PR
Q9HCH5 SYTL2 Synaptotagmin-like protein 2 Homo sapiens (Human) PR
Q86SS6 SYT9 Synaptotagmin-9 Homo sapiens (Human) PR
Q9BQG1 SYT3 Synaptotagmin-3 Homo sapiens (Human) PR
O00445 SYT5 Synaptotagmin-5 Homo sapiens (Human) PR
Q9BT88 SYT11 Synaptotagmin-11 Homo sapiens (Human) PR
Q96C24 SYTL4 Synaptotagmin-like protein 4 Homo sapiens (Human) PR
Q9BQS2 SYT15 Synaptotagmin-15 Homo sapiens (Human) PR
Q8TDW5 SYTL5 Synaptotagmin-like protein 5 Homo sapiens (Human) PR
Q8IYJ3 SYTL1 Synaptotagmin-like protein 1 Homo sapiens (Human) PR
O43581 SYT7 Synaptotagmin-7 Homo sapiens (Human) PR
Q5T7P8 SYT6 Synaptotagmin-6 Homo sapiens (Human) PR
P40749 Syt4 Synaptotagmin-4 Mus musculus (Mouse) PR
Q9EQT6 Syt13 Synaptotagmin-13 Mus musculus (Mouse) PR
Q9R0N4 Syt10 Synaptotagmin-10 Mus musculus (Mouse) PR
Q99N80 Sytl1 Synaptotagmin-like protein 1 Mus musculus (Mouse) PR
Q9R0Q1 Sytl4 Synaptotagmin-like protein 4 Mus musculus (Mouse) PR
Q8C6N3 Syt15 Synaptotagmin-15 Mus musculus (Mouse) PR
Q920N7 Syt12 Synaptotagmin-12 Mus musculus (Mouse) PR
Q80T23 Sytl5 Synaptotagmin-like protein 5 Mus musculus (Mouse) PR
Q9R0N5 Syt5 Synaptotagmin-5 Mus musculus (Mouse) PR
Q9R0N9 Syt9 Synaptotagmin-9 Mus musculus (Mouse) PR
Q9R0N8 Syt6 Synaptotagmin-6 Mus musculus (Mouse) PR
Q50L43 Pla2g4d Cytosolic phospholipase A2 delta Mus musculus (Mouse) PR
P46096 Syt1 Synaptotagmin-1 Mus musculus (Mouse) PR
Q9R0N3 Syt11 Synaptotagmin-11 Mus musculus (Mouse) PR
O35681 Syt3 Synaptotagmin-3 Mus musculus (Mouse) PR
P46097 Syt2 Synaptotagmin-2 Mus musculus (Mouse) PR
Q91XT6 Tc2n Tandem C2 domains nuclear protein Mus musculus (Mouse) PR
Q812E4 Sytl5 Synaptotagmin-like protein 5 Rattus norvegicus (Rat) PR
Q925B5 Syt13 Synaptotagmin-13 Rattus norvegicus (Rat) PR
O08625 Syt10 Synaptotagmin-10 Rattus norvegicus (Rat) PR
P47861 Syt5 Synaptotagmin-5 Rattus norvegicus (Rat) PR
Q62746 Syt6 Synaptotagmin-6 Rattus norvegicus (Rat) PR
P97610 Syt12 Synaptotagmin-12 Rattus norvegicus (Rat) PR
P40748 Syt3 Synaptotagmin-3 Rattus norvegicus (Rat) PR
Q925C0 Syt9 Synaptotagmin-9 Rattus norvegicus (Rat) PR
P59926 Syt15 Synaptotagmin-15 Rattus norvegicus (Rat) PR
P21707 Syt1 Synaptotagmin-1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MATEFIKSCC GGCFYGETEK HNFSVERDFK AAVPNSQNAT ISVPPLTSVS VKPQLGCTED
70 80 90 100 110 120
YLLSKLPSDG KEVPFVVPKF KLSYIQPRTQ ETPSHLEELE GSARASFGDR KVELSSSSQH
130 140 150 160 170 180
GPSYDVYNPF YMYQHISPDL SRRFPPRSEV KRLYGSVCDL RTNKLPGSPG LSKSMFDLTN
190 200 210 220 230 240
SSQRFIQRHD SLSSVPSSSS SRKNSQGSNR SLDTITLSGD ERDFGRLNVK LFYNSSVEQI
250 260 270 280 290 300
WITVLQCRDL SWPSSYGDTP TVSIKGILTL PKPVHFKSSA KEGSNAIEFM ETFVFAIKLQ
310 320 330 340 350 360
NLQTVRLVFK IQTQTPRKKT IGECSMSLRT LSTQEMDYSL DITPPSKISV CHAELELGTC
370 380 390 400 410 420
FQAVNSRIQL QILEARYLPS SSTPLTLSFF VKVGMFSSGE LIYKKKTRLL KASNGRVKWG
430 440 450 460 470 480
ETMIFPLIQS EKEIVFLIKL YSRSSVRRKH FVGQIWISED SNNIEAVNQW KETVINPEKV
VIRWHKLNPS