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 Q99961

Entry ID Method Resolution Chain Position Source
AF-Q99961-F1 Predicted AlphaFoldDB

305 variants for Q99961

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1301689585
CA403419434
2 S>L No ClinGen
gnomAD
rs749962293
CA9096936
4 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA403419323
rs1330530963
9 Q>K No ClinGen
gnomAD
CA403419315
rs1446899294
9 Q>R No ClinGen
gnomAD
rs761916678
CA9096906
22 G>R No ClinGen
ExAC
gnomAD
TCGA novel 26 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403445842
rs1250745138
28 K>Q No ClinGen
TOPMed
CA403445810
rs1168675200
31 D>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA403445776
rs1180167866
34 K>R No ClinGen
TOPMed
CA304493114
rs543260079
35 E>K No ClinGen
Ensembl
CA403445756
rs1264123023
36 M>R No ClinGen
gnomAD
CA403445753
rs1264123023
36 M>T No ClinGen
gnomAD
rs373539047
CA9096900
38 K>E No ClinGen
ESP
ExAC
gnomAD
rs369623466
CA9096899
38 K>M No ClinGen
ESP
ExAC
gnomAD
CA403445586
rs1599594691
40 V>G No ClinGen
Ensembl
rs1446140246
CA403445554
42 V>A No ClinGen
gnomAD
rs746817206
CA9096873
43 T>I No ClinGen
ExAC
gnomAD
CA403445524
rs1412963539
44 S>N No ClinGen
gnomAD
rs566081903
CA9096871
45 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs754044096
COSM1471019
CA9096870
46 A>V prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1176624802
CA403445497
47 V>M No ClinGen
gnomAD
TCGA novel 48 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9096867
rs752782203
48 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs768141573
CA9096866
49 E>D No ClinGen
ExAC
gnomAD
CA403445466
rs1200195091
49 E>G No ClinGen
gnomAD
CA304492661
rs968920723
53 R>K No ClinGen
gnomAD
rs1308367942
COSM1393315
CA403445380
54 T>I large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs770599947
CA304492658
56 E>A No ClinGen
Ensembl
CA304492646
rs1036023718
56 E>D No ClinGen
TOPMed
gnomAD
rs1311520364
CA403445363
56 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA403445344
rs1340124740
57 Y>D No ClinGen
gnomAD
CA9096861
rs772764780
62 P>T No ClinGen
ExAC
gnomAD
TCGA novel 63 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA304491621
COSM3938161
rs751683510
64 S>L oesophagus [Cosmic] No ClinGen
cosmic curated
Ensembl
CA9096827
rs755132916
COSM1225570
65 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA9096828
rs781544249
65 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA403445157
rs1462517450
66 A>T No ClinGen
gnomAD
TCGA novel 70 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142802456
CA304491597
71 L>F No ClinGen
1000Genomes
TOPMed
rs1478389740
CA403444615
72 N>S No ClinGen
gnomAD
CA9096822
rs765697108
77 I>F No ClinGen
ExAC
gnomAD
rs757527993
CA9096821
78 R>W No ClinGen
ExAC
gnomAD
rs763685197
CA9096820
79 G>R No ClinGen
ExAC
gnomAD
CA9096819
rs763685197
79 G>S No ClinGen
ExAC
gnomAD
CA304491564
rs1021477685
79 G>V No ClinGen
Ensembl
TCGA novel 82 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403444514
rs1599593481
83 N>T No ClinGen
Ensembl
rs767369209
CA9096816
85 G>D No ClinGen
ExAC
gnomAD
CA403444497
rs1161084715
85 G>S No ClinGen
TOPMed
gnomAD
rs1568408748
CA403444486
86 Y>C No ClinGen
Ensembl
CA9096814
rs774126153
87 P>L No ClinGen
ExAC
gnomAD
rs759585653
CA9096815
87 P>T No ClinGen
ExAC
gnomAD
CA9096810
rs768936054
89 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA9096811
rs768936054
89 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403444455
rs1397490750
90 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 91 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403444428
rs1568408718
94 G>S No ClinGen
Ensembl
rs1599593390
CA403444410
96 C>G No ClinGen
Ensembl
CA9096806
rs746424143
96 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs555932362
CA9096805
97 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9096804
rs757637498
98 I>L No ClinGen
ExAC
gnomAD
rs868490265
CA304491430
99 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs754159467
CA9096803
99 R>H No ClinGen
ExAC
gnomAD
CA403444361
rs1385225579
101 G>R No ClinGen
TOPMed
CA403444318
rs1212303058
105 G>D No ClinGen
TOPMed
CA403444323
rs1284562000
105 G>R No ClinGen
TOPMed
CA403444322
rs1284562000
105 G>S No ClinGen
TOPMed
rs767094867
CA9096799
106 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA9096800
rs539292999
106 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1311329938
CA403444298
107 E>D No ClinGen
gnomAD
rs751539443
CA9096797
107 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs762848850
CA9096795
109 N>H No ClinGen
ExAC
gnomAD
CA403444277
rs773086879
109 N>K No ClinGen
ExAC
gnomAD
CA9096757
rs757946404
111 G>D No ClinGen
ExAC
gnomAD
CA9096754
rs757104640
113 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1340290246
CA403444163
115 L>M No ClinGen
gnomAD
CA9096752
rs767791927
116 D>H No ClinGen
ExAC
gnomAD
CA9096750
rs774551415
118 G>S No ClinGen
ExAC
gnomAD
rs766494956
CA9096749
119 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA403444131
rs1458433234
119 E>K No ClinGen
gnomAD
CA403444121
rs1599591156
120 S>A No ClinGen
Ensembl
rs1599591145
CA403444116
121 M>L No ClinGen
Ensembl
rs762971820
CA9096748
123 R>C Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9096746
rs373084701
123 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373084701
CA9096747
123 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9096744
rs776921353
125 A>P No ClinGen
ExAC
gnomAD
rs1430268439
CA403444081
126 E>D No ClinGen
TOPMed
gnomAD
rs1599591099
CA403444075
127 V>G No ClinGen
Ensembl
CA9096743
rs769063861
127 V>M No ClinGen
ExAC
gnomAD
rs1317750728
CA403444035
133 I>V No ClinGen
TOPMed
gnomAD
CA9096736
rs757086845
137 Q>* No ClinGen
ExAC
rs763862391
CA9096735
138 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA304489827
rs1006681022
140 I>L No ClinGen
TOPMed
rs1334979888
CA403443896
142 P>L No ClinGen
TOPMed
rs568609310
CA9096732
142 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs568609310
CA403443905
142 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1568407569
CA403443878
144 Q>* No ClinGen
Ensembl
CA304489807
rs924000086
145 N>K No ClinGen
Ensembl
CA304489806
rs147973938
146 L>V No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA9096729
rs201291309
149 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA9096727
rs762290109
152 K>Q No ClinGen
ExAC
gnomAD
CA304489405
rs756926556
158 L>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 159 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761323864
CA9096687
165 R>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 165 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403443511
rs1276295040
167 D>G No ClinGen
TOPMed
gnomAD
rs1337813631
CA403443502
168 F>L No ClinGen
TOPMed
CA403443498
rs1429911431
168 F>S No ClinGen
gnomAD
rs1416036644
CA403443490
169 D>N No ClinGen
TOPMed
rs768035055
CA9096685
173 K>Q No ClinGen
ExAC
gnomAD
rs759957726
CA9096684
174 R>W No ClinGen
ExAC
gnomAD
CA403443402
rs1354356133
176 G>D No ClinGen
TOPMed
rs773905674
CA9096683
176 G>R No ClinGen
ExAC
gnomAD
CA304489340
rs946880277
178 I>T No ClinGen
Ensembl
rs748121251
CA403443357
180 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA9096678
rs748121251
180 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA403443318
rs1219488096
182 E>D No ClinGen
gnomAD
CA403443314
rs1284446529
183 L>I No ClinGen
TOPMed
rs768457754
CA9096676
COSM328588
184 R>C kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs746783898
CA9096675
184 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs148839471
CA304489312
185 Q>R No ClinGen
ESP
rs1255884313
CA403443278
186 A>V No ClinGen
gnomAD
rs1599590378
CA403443275
187 L>V No ClinGen
Ensembl
rs371164108
CA9096670
191 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 192 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA304489234
rs1036950635
194 K>Q No ClinGen
TOPMed
rs1410827972 195 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1397621147
CA403443157
195 E>D No ClinGen
gnomAD
CA9096667
rs755398525
195 E>V No ClinGen
ExAC
gnomAD
rs751893479
CA9096666
196 V>M No ClinGen
ExAC
gnomAD
CA403443144
rs1422280121
197 A>T No ClinGen
gnomAD
CA9096665
rs766638498
198 E>Q No ClinGen
ExAC
gnomAD
CA403443117
rs1312949827
199 T>A No ClinGen
TOPMed
rs891160431
CA304489227
200 S>G No ClinGen
Ensembl
CA9096662
rs764774164
204 L>F No ClinGen
ExAC
gnomAD
CA9096660
rs573662769
205 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA403443016
rs1203564816
206 E>D No ClinGen
gnomAD
CA9096626
rs147741212
209 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760083112
CA9096622
210 E>D No ClinGen
ExAC
gnomAD
rs763635891
CA9096623
210 E>K Variant assessed as Somatic; 4.764e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1455356862
CA403442506
212 V>G No ClinGen
TOPMed
gnomAD
CA403442493
rs1348366689
214 Q>* No ClinGen
gnomAD
CA403442484
rs1164476544
214 Q>H No ClinGen
gnomAD
CA403442480
rs1474793700
215 L>F No ClinGen
gnomAD
CA9096621
rs202142863
216 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759387629
CA9096619
217 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA403442463
rs759387629
217 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 218 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 220 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM4127686
CA403442433
rs1212657460
221 A>T ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
rs768801940
CA9096614
223 L>M No ClinGen
ExAC
gnomAD
COSM3362898
rs780611547
CA9096612
225 Y>C kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA403442374
rs567748801
227 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9096610
rs746365536
227 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs567748801
CA9096611
227 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1385789450
CA403442367
228 Q>P No ClinGen
gnomAD
CA403442361
rs1368861714
229 A>T No ClinGen
gnomAD
rs779319587
CA9096609
229 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs369234045
CA9096607
230 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1444109066
CA403442321
233 L>P No ClinGen
gnomAD
rs1331772123
CA403442313
234 D>G No ClinGen
TOPMed
rs1460227872
CA403442310
235 E>K No ClinGen
TOPMed
gnomAD
CA9096603
rs571418230
237 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9096604
rs571418230
237 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 238 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9096601
rs751509720
238 E>G No ClinGen
ExAC
gnomAD
rs766323957
CA9096600
239 K>T No ClinGen
ExAC
gnomAD
CA403442262
rs1254426126
240 L>F No ClinGen
gnomAD
CA9096598
rs373002537
241 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9096597
rs139264612
242 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9096596
rs760818851
242 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs945286931
CA304486384
243 R>G No ClinGen
Ensembl
rs1353313484
CA403442054
244 M>I No ClinGen
gnomAD
CA9096554
rs751582205
244 M>V No ClinGen
ExAC
rs773744604
CA9096551
245 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9096552
rs773744604
245 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs150815092
CA9096553
245 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1345880991
CA403442031
246 E>A No ClinGen
gnomAD
rs1360789872
CA403442027
246 E>D No ClinGen
gnomAD
rs1315643275
CA403441997
248 S>F No ClinGen
gnomAD
CA9096549
rs142350724
250 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403441976
rs1160920956
250 R>H No ClinGen
TOPMed
gnomAD
CA9096548
rs376342224
252 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs988999691
CA304485839
252 K>N No ClinGen
Ensembl
rs200759611
CA304485846
252 K>T No ClinGen
Ensembl
rs551005842
CA9096545
253 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs746644425
CA9096546
253 R>W No ClinGen
ExAC
TOPMed
gnomAD
COSM997578
CA9096542
rs778864341
254 E>K endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9096543
rs778864341
254 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA16040523
rs916514568
255 Y>C No ClinGen
TOPMed
rs781408393
CA403441925
257 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA9096539
rs781408393
257 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs781408393
CA403441926
257 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA9096536
rs547151618
258 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA304485809
rs527380978
260 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9096534
rs527380978
260 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9096535
rs763039641
260 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs984408261
CA304485792
261 E>K No ClinGen
TOPMed
rs1322181805
CA403441817
265 L>F No ClinGen
gnomAD
CA9096529
rs543281961
266 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769134396
CA9096530
266 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1407364241
CA403441776
268 P>A No ClinGen
gnomAD
rs1407364241
CA403441775
268 P>S No ClinGen
gnomAD
CA9096526
rs771734638
270 Q>H No ClinGen
ExAC
gnomAD
CA403441746
rs1475809671
270 Q>R No ClinGen
gnomAD
COSM3797184
CA9096524
rs778720794
271 S>F Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs745345897
CA9096525
271 S>P No ClinGen
ExAC
gnomAD
CA403441709
rs749170520
CA9096522
273 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA403441679
rs1488634454
275 F>L No ClinGen
TOPMed
CA403441662
rs1216188881
276 P>L No ClinGen
TOPMed
CA9096519
COSM997577
rs369351554
277 C>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9096517
rs574382792
278 T>A No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 278 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9096516
rs750455250
279 T>I No ClinGen
ExAC
gnomAD
rs376186521
CA304485736
280 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA9096515
rs563998650
280 A>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 282 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 282 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9096513
rs754369352
282 K>R No ClinGen
ExAC
gnomAD
CA403441589
rs200662405
283 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138726702
CA9096511
284 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1183101564
CA403441437
286 S>L No ClinGen
gnomAD
CA9096478
rs141729110
287 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403441426
rs1208945799
288 S>F No ClinGen
TOPMed
gnomAD
CA403441417
rs138775819
289 F>L No ClinGen
ESP
TOPMed
gnomAD
rs749316862
CA403441414
COSM79283
290 R>* ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA304485490
rs997768573
290 R>L No ClinGen
TOPMed
gnomAD
CA304485494
rs997768573
290 R>P No ClinGen
TOPMed
gnomAD
rs997768573
CA304485497
290 R>Q No ClinGen
TOPMed
gnomAD
rs1315426627
CA403441409
291 S>F No ClinGen
gnomAD
rs778439340
CA9096475
292 S>C No ClinGen
ExAC
gnomAD
CA403441397
rs1392496454
293 D>E No ClinGen
TOPMed
gnomAD
CA9096472
rs201029225
293 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201029225
CA9096471
293 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 295 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1460667094
CA403441386
295 P>S No ClinGen
gnomAD
rs765879947
CA9096468
296 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146037902
CA9096469
296 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199700932
CA9096466
297 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149527990
CA9096467
297 R>W Variant assessed as Somatic; 4.811e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1599587521
CA403441374
298 T>P No ClinGen
Ensembl
rs1213529120
CA403441366
299 P>H No ClinGen
TOPMed
gnomAD
CA403441364
rs1213529120
299 P>L No ClinGen
TOPMed
gnomAD
CA9096463
rs776408094
299 P>S No ClinGen
ExAC
gnomAD
rs768521985
CA9096462
300 S>N No ClinGen
ExAC
gnomAD
CA9096458
rs539311717
301 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
COSM1393313
rs150284370
CA9096459
301 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1298448974
CA403441350
302 S>I No ClinGen
gnomAD
rs778065764
CA9096457
302 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA304485457
rs1023462737
303 M>I No ClinGen
TOPMed
gnomAD
CA304485460
rs968698207
303 M>T No ClinGen
TOPMed
gnomAD
rs976125279 304 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA9096417
rs747516715
304 P>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1195155
CA9096456
rs201867179
304 P>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403441273
rs1330040236
305 P>H No ClinGen
gnomAD
CA9096416
rs775925269
305 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs746167461
CA9096414
306 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1283524258
CA403441241
307 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778554390
CA9096413
307 D>H No ClinGen
ExAC
gnomAD
rs1448198829
COSM1717084
CA403441215
309 P>S NS [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1315834293
CA403441189
310 S>N No ClinGen
gnomAD
rs1433948538
CA403441183
310 S>R No ClinGen
gnomAD
CA304485163
rs894677569
312 K>E No ClinGen
TOPMed
rs755630348
CA9096409
315 Y>H No ClinGen
ExAC
gnomAD
rs767494738
CA9096407
316 D>N No ClinGen
ExAC
gnomAD
CA304485151
rs928883482
318 E>D No ClinGen
TOPMed
gnomAD
rs138715687
CA403441045
318 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138715687
CA9096405
318 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9096402
rs146842065
320 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1599586395
CA403440956
322 D>G No ClinGen
Ensembl
CA9096400
rs377322414
322 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9096396
rs771296697
323 G>E No ClinGen
ExAC
gnomAD
CA9096398
rs200448085
CA9096397
323 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9096395
rs771296697
323 G>V No ClinGen
ExAC
gnomAD
rs201385705
CA9096393
327 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA403440829
rs1324569950
328 H>R No ClinGen
TOPMed
gnomAD
CA403440834
rs1349626134
328 H>Y No ClinGen
gnomAD
CA9096390
rs747601449
331 D>N No ClinGen
ExAC
gnomAD
rs755032679
CA9096388
332 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs751507640
CA9096387
334 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1599586271
CA403440689
338 Q>L No ClinGen
Ensembl
CA403440683
rs1383663050
339 I>V No ClinGen
TOPMed
CA9096383
rs764312178
340 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9096380
rs767584323
345 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1299413656
CA403440590
346 G>S No ClinGen
gnomAD
rs1011767455
CA304485106
347 M>I No ClinGen
TOPMed
CA403440572
rs1366405325
347 M>L No ClinGen
gnomAD
rs774818942
CA9096378
349 D>N No ClinGen
ExAC
gnomAD
rs150388848
CA403440524
350 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9096376
rs150388848
350 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA304485098
rs1040250017
351 Q>H No ClinGen
gnomAD
CA9096375
rs772750715
352 S>L No ClinGen
ExAC
gnomAD
TCGA novel 354 F>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1240757586
CA403440473
354 F>S No ClinGen
TOPMed
rs80251498
CA9096373
355 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200891787
CA304485088
356 P>L No ClinGen
gnomAD
CA9096371
rs768255608
356 P>S No ClinGen
ExAC
gnomAD
rs1181319143
CA403440423
358 S>N No ClinGen
gnomAD
CA9096369
rs779999042
359 Y>F No ClinGen
ExAC
gnomAD
CA9096367
rs368802247
360 V>M No ClinGen
ESP
ExAC
gnomAD
rs1278885063
CA403440373
362 V>M No ClinGen
gnomAD
rs1221350699
CA403440357
363 L>V No ClinGen
gnomAD
rs752889222
CA9096364
364 V>L No ClinGen
ExAC
gnomAD
CA403440345
rs752889222
364 V>M No ClinGen
ExAC
gnomAD
CA403440306
rs1411006555
367 P>L No ClinGen
TOPMed
gnomAD

1 associated diseases with Q99961

Without disease ID

3 regional properties for Q99961

Type Name Position InterPro Accession
domain SH3 domain 306 - 365 IPR001452
domain BAR domain 5 - 249 IPR004148
domain Endophilin-A, SH3 domain 309 - 363 IPR035824

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Early endosome membrane ; Peripheral membrane protein
  • Cell projection, podosome
  • Associated with postsynaptic endosomes in hippocampal neurons
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane The lipid bilayer surrounding an early endosome.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
podosome An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm.
presynapse The part of a synapse that is part of the presynaptic cell.

3 GO annotations of molecular function

Name Definition
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
identical protein binding Binding to an identical protein or proteins.
lipid binding Binding to a lipid.

3 GO annotations of biological process

Name Definition
central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
synaptic vesicle uncoating The removal of the protein coat on a synaptic vesicle following the pinching step at the end of budding from the presynaptic membrane.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2KJA1 SH3GL1 Endophilin-A2 Bos taurus (Bovine) PR
Q8AXU9 SH3GL3 Endophilin-A3 Gallus gallus (Chicken) PR
Q8AXV1 SH3GL2 Endophilin-A1 Gallus gallus (Chicken) PR
Q5HYK7 SH3D19 SH3 domain-containing protein 19 Homo sapiens (Human) PR
Q9Y371 SH3GLB1 Endophilin-B1 Homo sapiens (Human) PR
Q99962 SH3GL2 Endophilin-A1 Homo sapiens (Human) PR
Q99963 SH3GL3 Endophilin-A3 Homo sapiens (Human) PR
Q9Y5K6 CD2AP CD2-associated protein Homo sapiens (Human) SS
Q96B97 SH3KBP1 SH3 domain-containing kinase-binding protein 1 Homo sapiens (Human) EV
Q62421 Sh3gl3 Endophilin-A3 Mus musculus (Mouse) PR
Q62420 Sh3gl2 Endophilin-A1 Mus musculus (Mouse) PR
Q62419 Sh3gl1 Endophilin-A2 Mus musculus (Mouse) PR
Q9JK48 Sh3glb1 Endophilin-B1 Mus musculus (Mouse) PR
O35180 Sh3gl3 Endophilin-A3 Rattus norvegicus (Rat) PR
O35179 Sh3gl2 Endophilin-A1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSVAGLKKQF YKASQLVSEK VGGAEGTKLD DDFKEMEKKV DVTSKAVTEV LARTIEYLQP
70 80 90 100 110 120
NPASRAKLTM LNTVSKIRGQ VKNPGYPQSE GLLGECMIRH GKELGGESNF GDALLDAGES
130 140 150 160 170 180
MKRLAEVKDS LDIEVKQNFI DPLQNLCEKD LKEIQHHLKK LEGRRLDFDY KKKRQGKIPD
190 200 210 220 230 240
EELRQALEKF EESKEVAETS MHNLLETDIE QVSQLSALVD AQLDYHRQAV QILDELAEKL
250 260 270 280 290 300
KRRMREASSR PKREYKPKPR EPFDLGEPEQ SNGGFPCTTA PKIAASSSFR SSDKPIRTPS
310 320 330 340 350 360
RSMPPLDQPS CKALYDFEPE NDGELGFHEG DVITLTNQID ENWYEGMLDG QSGFFPLSYV
EVLVPLPQ