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

2 structures for Q96GD4

Entry ID Method Resolution Chain Position Source
4AF3 X-ray 275 A A 55-344 PDB
AF-Q96GD4-F1 Predicted AlphaFoldDB

293 variants for Q96GD4

Variant ID(s) Position Change Description Diseaes Association Provenance
CA397985833
RCV000791307
rs1597343914
283 R>C NK-cell enteropathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA8371674
rs773262332
2 A>V No ClinGen
ExAC
gnomAD
rs1395424704
CA397992686
3 Q>* No ClinGen
gnomAD
TCGA novel 4 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 5 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8371672
rs779961970
6 N>I No ClinGen
ExAC
gnomAD
CA8371671
rs779961970
6 N>S No ClinGen
ExAC
gnomAD
CA287554682
rs779961970
6 N>T No ClinGen
ExAC
gnomAD
rs1387585682
CA397992639
7 S>A No ClinGen
TOPMed
gnomAD
CA287554662
rs745736983
8 Y>* No ClinGen
ExAC
gnomAD
rs142567548
CA8371670
8 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397992619
rs148452780
9 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8371668
rs148452780
9 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397992621
rs148452780
9 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs956825869
CA287554659
9 P>S No ClinGen
Ensembl
rs947477963
CA287554651
12 Y>H No ClinGen
TOPMed
rs756682338
CA8371667
13 G>C No ClinGen
ExAC
gnomAD
CA8371666
rs753550850
15 Q>* No ClinGen
ExAC
gnomAD
rs1597357177
CA397992557
15 Q>H No ClinGen
Ensembl
rs1567578803
CA397992561
15 Q>L No ClinGen
Ensembl
CA8371665
rs763789172
16 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 17 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397991817
rs1597351595
18 P>L No ClinGen
Ensembl
TCGA novel 19 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1298220077
CA397991794
19 S>F No ClinGen
gnomAD
TCGA novel 19 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8371633
rs774168747
22 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA8371632
rs770844551
23 T>I No ClinGen
ExAC
TOPMed
CA397991744
rs1471615513
23 T>P No ClinGen
TOPMed
rs749239345
CA8371630
24 L>V No ClinGen
ExAC
gnomAD
RCV001197552
rs1391275763
CA397991707
25 P>L No ClinGen
ClinVar
TOPMed
dbSNP
rs924562298
CA287553490
27 R>* No ClinGen
TOPMed
gnomAD
CA397991685
rs924562298
27 R>G No ClinGen
TOPMed
gnomAD
rs370931710
CA397991684
27 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370931710
CA397991683
27 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM986231
COSM986230
CA8371629
rs370931710
27 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769224760
CA8371628
29 L>P No ClinGen
ExAC
gnomAD
CA397991626
rs780771169
30 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1387622
CA8371626
COSM1387621
rs780771169
30 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8371627
rs747826611
30 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA397991581
rs754633475
32 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754633475
CA8371625
32 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1272390478
CA397991538
33 P>T No ClinGen
TOPMed
gnomAD
CA8371624
rs144573311
34 V>I No ClinGen
ESP
ExAC
rs758885283
CA8371622
35 T>I No ClinGen
ExAC
gnomAD
rs758885283
CA8371623
35 T>S No ClinGen
ExAC
gnomAD
rs1362101464
CA397991436
36 P>S No ClinGen
TOPMed
CA8371621
rs377496373
37 S>P No ClinGen
ESP
ExAC
gnomAD
CA287553476
rs1010792978
38 A>T No ClinGen
TOPMed
gnomAD
rs1274318904
CA397991404
38 A>V No ClinGen
TOPMed
CA397991389
rs1198016157
39 L>F No ClinGen
TOPMed
CA8371620
rs765439455
39 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs761936670
CA8371619
40 V>G No ClinGen
ExAC
gnomAD
rs1306744788
CA397991372
41 L>F No ClinGen
gnomAD
CA397991327
rs1172359320
42 M>I No ClinGen
TOPMed
gnomAD
rs764267429
CA8371617
42 M>T No ClinGen
ExAC
gnomAD
CA8371618
rs753945703
42 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8371616
rs760951381
43 S>N No ClinGen
ExAC
gnomAD
CA8371615
rs529657077
44 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA8371614
rs201438176
44 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA287553456
rs1033492004
45 S>Y No ClinGen
TOPMed
CA8371613
rs373303324
46 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1249647161
CA397991224
46 N>S No ClinGen
gnomAD
CA397991151
rs1442898027
50 T>A No ClinGen
gnomAD
rs548042738
CA8371612
51 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs548042738
CA8371611
51 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8371589
rs55878091
VAR_040383
52 A>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA397991034
rs1331070591
53 P>R No ClinGen
TOPMed
rs372199124
CA8371587
57 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 57 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs74385486
CA8371586
58 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397990972
rs1373405985
58 M>T No ClinGen
gnomAD
CA8371584
rs199981964
61 S>G No ClinGen
1000Genomes
ExAC
gnomAD
rs368707663
CA8371583
63 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287553361
rs967208121
63 G>R No ClinGen
TOPMed
rs752882057
CA8371580
66 D>E No ClinGen
ExAC
gnomAD
rs756175507
CA8371581
66 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs767826491
CA8371579
67 I>F No ClinGen
ExAC
gnomAD
CA8371577
rs146036524
69 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146036524
CA8371578
69 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1640912
rs767082154
COSM1640913
CA8371549
70 R>Q stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8371550
rs141907099
70 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397990618
rs1307369422
71 H>R No ClinGen
gnomAD
CA397990620
rs1371205455
71 H>Y No ClinGen
gnomAD
rs759268563
CA8371548
72 F>L No ClinGen
ExAC
CA8371546
rs771442246
73 T>I No ClinGen
ExAC
gnomAD
rs763420999
CA8371545
74 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1217804024
CA397990594
74 I>V No ClinGen
gnomAD
CA287553229
rs1030051590
76 D>E No ClinGen
Ensembl
rs1422636488
CA397990521
79 I>L No ClinGen
TOPMed
gnomAD
CA8371544
rs569477433
79 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8371543
rs752234429
81 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287553208
rs1016005962
81 R>H No ClinGen
TOPMed
gnomAD
CA397990472
rs1567573394
83 L>P No ClinGen
Ensembl
rs1479941422
CA397990460
84 G>D No ClinGen
gnomAD
rs754558313
CA8371539
91 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs754558313
CA287553192
91 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758519714
CA8371537
92 Y>C No ClinGen
ExAC
gnomAD
CA8371538
rs780305148
92 Y>H No ClinGen
ExAC
gnomAD
CA397990325
rs1273614816
94 A>V No ClinGen
TOPMed
CA397990319
rs1287767783
95 R>G No ClinGen
gnomAD
CA8371536
rs184713921
95 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs777418552
CA8371535
96 E>D No ClinGen
ExAC
gnomAD
CA397990261
COSM3773352
COSM3773351
rs1465361269
99 S>N pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8371534
rs756093765
99 S>R No ClinGen
ExAC
gnomAD
VAR_027970
rs3027254
CA287553162
100 H>Q No ClinGen
UniProt
Ensembl
dbSNP
rs150216235
CA8371532
103 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397990187
rs1410672341
104 A>V No ClinGen
gnomAD
CA397990173
rs1424983703
105 L>P No ClinGen
TOPMed
gnomAD
CA287553139
rs937138967
108 L>F No ClinGen
TOPMed
gnomAD
CA8371529
rs766172470
111 S>Y No ClinGen
ExAC
gnomAD
rs1330076383
CA397990109
113 I>K No ClinGen
gnomAD
rs1330076383
CA397990108
113 I>T No ClinGen
gnomAD
rs148364684
CA8371528
114 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs765462146
CA8371525
117 G>C No ClinGen
ExAC
gnomAD
CA8371523
rs777080470
119 E>* No ClinGen
ExAC
TOPMed
rs777080470
CA397990031
119 E>Q No ClinGen
ExAC
TOPMed
rs1376766144
CA397989979
123 R>C No ClinGen
gnomAD
COSM279089
CA397989977
rs1322292985
123 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA397989966
rs1470035595
124 R>K No ClinGen
TOPMed
TCGA novel 127 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8371491
rs778477607
133 H>Q No ClinGen
ExAC
gnomAD
CA397989845
rs1166178184
133 H>R No ClinGen
gnomAD
rs756899404
CA8371490
136 N>D No ClinGen
ExAC
gnomAD
rs754259507
CA8371489
137 I>L No ClinGen
ExAC
gnomAD
rs754259507
CA287552917
137 I>V No ClinGen
ExAC
gnomAD
COSM986224
COSM986225
CA8371487
rs761178783
139 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs753106886
CA8371486
139 R>H No ClinGen
ExAC
gnomAD
CA8371485
rs767662913
142 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs1482688018
CA397989381
142 N>S No ClinGen
gnomAD
rs148133660
CA397989301
147 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8371483
rs774454455
147 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8371484
rs148133660
COSM166451
147 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761715349
CA8371482
149 R>S No ClinGen
ExAC
gnomAD
CA397989266
rs1218829707
150 I>F No ClinGen
gnomAD
CA397989244
rs1162727792
151 Y>C No ClinGen
TOPMed
rs763251744
CA8371481
152 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1336269033
CA397989195
155 E>D No ClinGen
gnomAD
rs147097910
CA8371480
157 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1416551145
CA397989139
158 P>H No ClinGen
TOPMed
gnomAD
rs1416551145
CA397989136
158 P>R No ClinGen
TOPMed
gnomAD
rs531140672
CA287552881
159 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746973523
CA8371478
159 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs746973523
CA397989114
159 R>L No ClinGen
ExAC
rs745673717 159 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs531140672
CA8371479
159 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772022668
CA8371475
160 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8371474
rs745437215
160 G>V No ClinGen
ExAC
gnomAD
CA8371473
rs778473673
162 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 166 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8371471
rs141770478
167 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397988950
rs556060247
167 Q>H No ClinGen
TOPMed
rs778145484
CA8371470
171 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8371468
rs199630207
174 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs199630207
CA8371467
174 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8371466
rs139322514
176 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751644642
CA8371465
176 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8371464
rs563853963
177 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_040384
rs55871613
CA8371463
179 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
rs369799875
CA287552633
181 M>T No ClinGen
ESP
TOPMed
CA287552629
rs1024089548
183 E>K No ClinGen
TOPMed
gnomAD
rs747492163
CA8371431
184 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287552611
rs993921967
185 A>T No ClinGen
Ensembl
CA397987394
rs1555528819
187 A>P No ClinGen
Ensembl
rs1344814938
CA397987383
188 L>V No ClinGen
gnomAD
rs780753505
CA397987365
189 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs780753505
CA8371430
189 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA8371429
rs758942421
190 Y>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 192 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1345373862
CA397987257
194 K>N No ClinGen
TOPMed
CA8371427
rs757425325
194 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs757425325
CA8371426
194 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1364985233
CA397987251
195 K>E No ClinGen
gnomAD
rs1456213387
CA397987237
195 K>N No ClinGen
TOPMed
gnomAD
CA397987222
rs1301272425
196 V>A No ClinGen
gnomAD
CA287552578
rs1036419971
201 I>L No ClinGen
Ensembl
TCGA novel 202 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146905713
CA287552572
204 E>D No ClinGen
ESP
CA397987051
rs1371011578
205 N>I No ClinGen
gnomAD
CA397986972
rs1236404954
210 L>F No ClinGen
TOPMed
CA8371423
rs149651741
RCV001197551
CA287552569
212 G>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1597347314
CA397986904
213 E>V No ClinGen
Ensembl
rs1206885296
CA397986845
217 A>S No ClinGen
TOPMed
rs1191377562
CA397986791
220 G>S No ClinGen
TOPMed
gnomAD
rs1597347270
CA397986766
222 S>A No ClinGen
Ensembl
rs1479839130
CA397986742
224 H>Q No ClinGen
gnomAD
rs766373871
CA8371421
225 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA397986446
rs1362686724
233 M>T No ClinGen
TOPMed
gnomAD
CA8371392
rs746401290
233 M>V No ClinGen
ExAC
gnomAD
CA397986394
rs1416479957
236 T>I No ClinGen
TOPMed
gnomAD
CA397986397
rs1416479957
236 T>N No ClinGen
TOPMed
gnomAD
CA287552181
rs371084440
238 D>Y No ClinGen
ESP
TOPMed
gnomAD
rs1461095881
CA397986342
241 P>S No ClinGen
gnomAD
rs1014338139
CA287552180
243 E>A No ClinGen
Ensembl
TCGA novel 246 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771314452
CA8371390
247 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA8371389
COSM3821086
rs749454960
COSM3821087
248 R>C Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM3403399
rs777705809
COSM3403398
CA8371388
248 R>H central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1195973827
CA397986236
249 M>R No ClinGen
gnomAD
CA8371387
rs756369265
249 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8371385
rs779852896
252 E>G No ClinGen
ExAC
gnomAD
CA287552169
rs1037161645
255 D>H No ClinGen
Ensembl
CA8371384
rs547667789
256 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs750194641
CA8371383
259 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs765259156
CA8371382
261 V>M No ClinGen
ExAC
gnomAD
CA397986034
rs1352124464
264 Y>C No ClinGen
gnomAD
CA397986038
rs1458939205
264 Y>H No ClinGen
gnomAD
CA397986002
rs1242900493
266 L>P No ClinGen
TOPMed
CA8371380
rs377723203
CA8371381
268 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377723203
CA8371379
268 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1444417079
CA397985979
269 G>R No ClinGen
gnomAD
CA287552118
rs964708710
272 P>S No ClinGen
TOPMed
rs888095238
CA287552115
273 F>L No ClinGen
Ensembl
CA8371374
rs774578753
274 E>K No ClinGen
ExAC
gnomAD
TCGA novel 276 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8371372
rs749704838
278 H>R No ClinGen
ExAC
gnomAD
rs771529944
CA8371373
278 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs565442198
CA8371369
CA8371370
279 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8371371
rs532696717
279 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs921141395
CA287552094
280 E>D No ClinGen
Ensembl
CA8371366
rs1466818032
280 E>K No ClinGen
TOPMed
rs1357061315
CA397985858
281 T>A No ClinGen
gnomAD
CA8371365
rs755160237
282 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1597343904
CA397985828
283 R>H No ClinGen
Ensembl
rs140224531
CA8371364
284 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM986222
COSM986223
rs866443565
CA287552090
284 R>H Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA397985813
rs866443565
284 R>L No ClinGen
TOPMed
gnomAD
CA397985811
rs1388038760
285 I>V No ClinGen
gnomAD
rs764223601
CA8371362
286 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1437061929 288 V>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA397985702
rs1436349390
290 L>P No ClinGen
TOPMed
gnomAD
CA397985660
rs1262064135
293 P>H No ClinGen
TOPMed
gnomAD
rs1262064135
CA397985656
293 P>L No ClinGen
TOPMed
gnomAD
rs767082017
CA8371340
293 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs773593110
CA8371336
294 A>D No ClinGen
ExAC
gnomAD
CA8371338
rs151173438
COSM309397
294 A>S lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151173438
CA8371337
COSM986221
COSM986220
294 A>T endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8371335
rs773593110
294 A>V No ClinGen
ExAC
gnomAD
rs1240362644
CA397985640
295 S>A No ClinGen
gnomAD
rs1335610811
CA397985634
295 S>F No ClinGen
gnomAD
rs1454860641
CA397985631
296 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs768656332
CA8371331
COSM1387617
COSM1387618
CA8371332
298 M>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1059476
CA397985600
298 M>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_027971
rs1059476
CA8371333
298 M>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA397985576
rs1468316832
299 G>E No ClinGen
gnomAD
CA287551966
rs987905457
301 Q>H No ClinGen
TOPMed
CA8371330
rs760974257
301 Q>K No ClinGen
ExAC
gnomAD
rs775624172
CA8371329
302 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA8371328
rs772308526
303 L>F No ClinGen
ExAC
gnomAD
CA8371327
rs749106198
303 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA8371326
rs146334050
304 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1189382796
CA397985522
304 I>V No ClinGen
gnomAD
CA397985452
rs1567567792
309 R>S No ClinGen
Ensembl
CA397985449
rs1438848669
310 H>D No ClinGen
TOPMed
rs1465901154
CA397985425
311 N>S No ClinGen
gnomAD
rs1465901154
CA397985427
311 N>T No ClinGen
gnomAD
rs748036368
CA8371324
312 P>L No ClinGen
ExAC
gnomAD
CA8371323
rs144169786
313 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1031633247
CA287551961
313 S>P No ClinGen
TOPMed
rs779610702
CA8371320
315 R>Q No ClinGen
ExAC
gnomAD
CA8371321
rs548720084
315 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs758063733
CA8371319
317 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs758063733
CA397985357
317 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA397985341
rs1450678505
318 L>P No ClinGen
gnomAD
CA397985320
rs1319055091
320 Q>P No ClinGen
gnomAD
CA397985319
rs1319055091
320 Q>R No ClinGen
gnomAD
rs1597342831
CA397985302
321 V>G No ClinGen
Ensembl
rs765528752
CA8371316
323 A>T No ClinGen
ExAC
gnomAD
CA397985269
rs1597342789
324 H>P No ClinGen
Ensembl
CA8371314
rs148715809
325 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148715809
CA8371313
325 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8371310
rs369229594
328 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773142037
CA8371308
328 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs369229594
CA8371309
328 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769668225
CA8371307
329 A>S No ClinGen
ExAC
gnomAD
rs573707475
CA287551905
329 A>V No ClinGen
1000Genomes
gnomAD
CA8371305
rs781331723
330 N>D No ClinGen
ExAC
gnomAD
rs1597342659
CA397985196
330 N>T No ClinGen
Ensembl
CA397985175
rs746570349
332 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs879004728
CA397985170
332 R>L No ClinGen
TOPMed
gnomAD
rs879004728
CA397985171
332 R>P No ClinGen
TOPMed
gnomAD
rs879004728
CA287551900
332 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs746570349
CA8371303
332 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA397985155
rs1597342598
334 V>G No ClinGen
Ensembl
rs758002006
CA8371301
336 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8371299
rs779280853
338 S>F No ClinGen
ExAC
gnomAD
CA397985130
rs1304933044
339 A>D No ClinGen
gnomAD
CA287551889
rs926096865
340 L>R No ClinGen
Ensembl
CA287551887
rs267605101
341 Q>* No ClinGen
Ensembl
CA397985120
rs1261323776
341 Q>P No ClinGen
gnomAD
CA8371296
rs201709756
344 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8371295
COSM1387613
COSM1387614
rs201709756
344 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1161457774
CA397985098
345 A>R No ClinGen
TOPMed
gnomAD

1 associated diseases with Q96GD4

Without disease ID

3 regional properties for Q96GD4

Type Name Position InterPro Accession
domain Protein kinase domain 77 - 327 IPR000719
active_site Serine/threonine-protein kinase, active site 196 - 208 IPR008271
binding_site Protein kinase, ATP binding site 83 - 106 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Nucleus
  • Chromosome
  • Chromosome, centromere
  • Chromosome, centromere, kinetochore
  • Cytoplasm, cytoskeleton, spindle
  • Midbody
  • Localizes on chromosome arms and inner centromeres from prophase through metaphase and then transferring to the spindle midzone and midbody from anaphase through cytokinesis (PubMed:20929775)
  • Colocalized with gamma tubulin in the midbody (PubMed:17726514)
  • Proper localization of the active, Thr-232-phosphorylated form during metaphase may be dependent upon interaction with SPDYC (PubMed:20605920)
  • Colocalized with SIRT2 during cytokinesis with the midbody (PubMed:17726514)
  • Localization (and probably targeting of the CPC) to the inner centromere occurs predominantly in regions with overlapping mitosis-specific histone phosphorylations H3pT3 and H2ApT12 (PubMed:20929775)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

15 GO annotations of cellular component

Name Definition
chromocenter A region in which centric, heterochromatic portions from more than one chromosomes form a compact structure.
chromosome passenger complex A eukaryotically conserved protein complex that localizes to kinetochores in early mitosis, the spindle mid-zone in anaphase B and to the telophase midbody. It has been proposed that the passenger complex coordinates various events based on its location to different structures during the course of mitosis. Complex members include the BIR-domain-containing protein Survivin, Aurora kinase, INCENP and Borealin.
condensed chromosome, centromeric region The region of a condensed chromosome that includes the centromere and associated proteins, including the kinetochore. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
kinetochore A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitotic spindle midzone The area in the center of the anaphase spindle consisting of microtubules, microtubule bundling factors and kinesin motors where the spindle microtubules from opposite poles overlap in an antiparallel manner.
mitotic spindle pole Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
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.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
spindle microtubule Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole.
spindle midzone The area in the center of the spindle where the spindle microtubules from opposite poles overlap.
spindle pole centrosome A centrosome from which one pole of a mitotic or meiotic spindle is organized.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
histone serine kinase activity Catalysis of the transfer of a phosphate group to a serine residue of a histone.
kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

36 GO annotations of biological process

Name Definition
abscission The controlled shedding of a body part.
aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
attachment of spindle microtubules to kinetochore The process in which spindle microtubules become physically associated with the proteins making up the kinetochore complex.
cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to UV Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
cleavage furrow formation Generation of the cleavage furrow, a shallow groove in the cell surface near the old metaphase plate that marks the site of cytokinesis. This process includes the recruitment and localized activation of signals such as RhoA at the site of the future furrow to ensure that furrowing initiates at the correct site in the cell.
histone modification The covalent alteration of one or more amino acid residues within a histone protein.
mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
mitotic cytokinesis A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
mitotic cytokinesis checkpoint signaling A signaling process that contributes to a mitotic cell cycle checkpoint that detects a defect in cytokinesis and prevents further rounds of nuclear division until cytokinesis is completed.
mitotic spindle assembly checkpoint signaling A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle.
mitotic spindle midzone assembly The cell cycle process in which the aggregation, arrangement and bonding together of a set of components forms the spindle midzone.
mitotic spindle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
negative regulation of B cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell apoptotic process.
negative regulation of cytokinesis Any process that stops, prevents, or reduces the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells.
negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.
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 attachment of mitotic spindle microtubules to kinetochore Any process that activates or increases the frequency, rate or extent of attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation.
positive regulation of cytokinesis Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells.
positive regulation of lateral attachment of mitotic spindle microtubules to kinetochore Any process that activates or increases the frequency, rate or extent of lateral attachment of mitotic spindle microtubules to kinetochore.
positive regulation of mitotic cell cycle spindle assembly checkpoint Any process that increases the rate, frequency, or extent of the mitotic cell cycle spindle assembly checkpoint, a cell cycle checkpoint that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle.
positive regulation of mitotic cytokinesis Any process that activates or increases the frequency, rate or extent of mitotic cytokinesis.
positive regulation of mitotic sister chromatid segregation Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis.
positive regulation of mitotic sister chromatid separation Any process that activates or increases the frequency, rate or extent of mitotic sister chromatid separation.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of telomerase activity Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
positive regulation of telomere capping Any process that activates or increases the frequency, rate or extent of telomere capping.
positive regulation of telomere maintenance via telomerase Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase.
post-translational protein modification The process of covalently altering one or more amino acids in a protein after the protein has been completely translated and released from the ribosome.
protein autophosphorylation The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein localization to kinetochore Any process in which a protein is transported to, or maintained at, the kinetochore.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of chromosome segregation Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.
regulation of cytokinesis Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.
regulation of signal transduction by p53 class mediator Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
spindle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P38991 IPL1 Spindle assembly checkpoint kinase Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q2TA06 AURKA Aurora kinase A Bos taurus (Bovine) PR
Q7YRC6 AURKB Aurora kinase B Bos taurus (Bovine) PR
Q9VKN7 aurB Aurora kinase B Drosophila melanogaster (Fruit fly) PR
Q9UQB9 AURKC Aurora kinase C Homo sapiens (Human) PR
O14965 AURKA Aurora kinase A Homo sapiens (Human) PR
P97477 Aurka Aurora kinase A Mus musculus (Mouse) PR
O88445 Aurkc Aurora kinase C Mus musculus (Mouse) PR
O70126 Aurkb Aurora kinase B Mus musculus (Mouse) PR
A5GFW1 AURKA Aurora kinase A Sus scrofa (Pig) PR
Q9N0X0 AURKB Aurora kinase B Sus scrofa (Pig) PR
O55099 Aurkb Aurora kinase B Rattus norvegicus (Rat) PR
O01427 air-2 Aurora/IPL1-related protein kinase 2 Caenorhabditis elegans PR
A4IGM9 aurkb Aurora kinase B Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6NW76 aurkb Aurora kinase B Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAQKENSYPW PYGRQTAPSG LSTLPQRVLR KEPVTPSALV LMSRSNVQPT AAPGQKVMEN
70 80 90 100 110 120
SSGTPDILTR HFTIDDFEIG RPLGKGKFGN VYLAREKKSH FIVALKVLFK SQIEKEGVEH
130 140 150 160 170 180
QLRREIEIQA HLHHPNILRL YNYFYDRRRI YLILEYAPRG ELYKELQKSC TFDEQRTATI
190 200 210 220 230 240
MEELADALMY CHGKKVIHRD IKPENLLLGL KGELKIADFG WSVHAPSLRR KTMCGTLDYL
250 260 270 280 290 300
PPEMIEGRMH NEKVDLWCIG VLCYELLVGN PPFESASHNE TYRRIVKVDL KFPASVPMGA
310 320 330 340
QDLISKLLRH NPSERLPLAQ VSAHPWVRAN SRRVLPPSAL QSVA