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

241-264 (Activation loop from InterPro)

Target domain

103-387 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q96Q40

Entry ID Method Resolution Chain Position Source
AF-Q96Q40-F1 Predicted AlphaFoldDB

369 variants for Q96Q40

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1259390528
CA350329850
2 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1457984844
CA350329854
3 Q>K No ClinGen
gnomAD
CA350329872
rs1208856499
5 L>P No ClinGen
gnomAD
TCGA novel 7 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767300371
CA2058786
8 K>E No ClinGen
ExAC
gnomAD
CA350329893
rs1172958647
8 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2058787
rs750597035
8 K>R No ClinGen
ExAC
gnomAD
CA350329895
rs1313351728
9 T>A No ClinGen
TOPMed
rs749369969
CA2058791
11 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA2058794
rs748700701
12 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs779517791
CA2058793
12 P>T No ClinGen
ExAC
gnomAD
rs1390901532
CA350329920
13 G>V No ClinGen
TOPMed
gnomAD
CA350329926
rs1326872038
14 C>Y No ClinGen
gnomAD
rs1413649352
CA350329933
15 S>C No ClinGen
TOPMed
CA350329942
rs1220995138
16 C>Y No ClinGen
gnomAD
rs1317925044
CA350329957
18 H>R No ClinGen
gnomAD
rs772499604
CA2058795
18 H>Y No ClinGen
ExAC
gnomAD
rs773725256
CA350329968
19 C>* No ClinGen
ExAC
gnomAD
TCGA novel 20 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745523013
CA2058797
22 G>E No ClinGen
ExAC
gnomAD
CA350329996
rs775042284
24 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA2058799
rs775042284
24 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs762318734
CA2058800
25 A>T No ClinGen
ExAC
gnomAD
rs775901921
CA63969408
29 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs774206560
CA2058802
29 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2058801
rs775901921
29 R>W Variant assessed as Somatic; 8.584e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2058804
rs747573179
30 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs971223883
CA63969412
32 Q>H No ClinGen
TOPMed
CA63969417
rs1003207221
33 P>L No ClinGen
TOPMed
gnomAD
CA2058807
rs750249147
36 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs750249147
CA2058806
36 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1016630656
CA63969466
39 A>S No ClinGen
Ensembl
rs1359004229
CA350330095
39 A>V No ClinGen
gnomAD
CA2058810
rs536756372
41 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs779138761
CA2058811
41 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs369158011
CA350330139
44 D>E No ClinGen
ESP
ExAC
gnomAD
TCGA novel 44 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2058835
rs757496592
46 K>E No ClinGen
ExAC
TOPMed
rs569840064
CA2058836
46 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA2058837
rs748922435
47 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1198285571
CA350330164
48 A>V No ClinGen
TOPMed
gnomAD
CA2058838
rs200245595
50 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA2058840
rs747703696
52 M>T No ClinGen
ExAC
gnomAD
rs1460359142
CA350330196
53 T>S No ClinGen
gnomAD
CA350330200
rs1178799533
54 S>* No ClinGen
gnomAD
CA2058841
rs771636326
54 S>P No ClinGen
ExAC
gnomAD
CA2058843
rs746974802
58 R>T No ClinGen
ExAC
gnomAD
rs1330297237
CA350330236
59 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA350330242
rs1397738310
60 L>P No ClinGen
gnomAD
TCGA novel 62 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1005013404
CA63969957
63 A>S No ClinGen
TOPMed
CA2058844
rs34776344
64 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_042016
CA2058845
rs34776344
64 R>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2058846
rs759835104
64 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs759835104
CA350330264
64 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2058847
rs548746565
68 F>S No ClinGen
1000Genomes
ExAC
gnomAD
CA350330305
rs1226602687
70 S>N No ClinGen
TOPMed
CA2058848
rs201632234
74 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA350330332
rs1217408740
74 R>W No ClinGen
TOPMed
gnomAD
rs1218144710
CA350330364
78 D>V No ClinGen
gnomAD
CA2058851
rs764238297
79 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs764238297
CA2058852
79 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1459313210
CA350330393
82 E>G No ClinGen
gnomAD
rs757836967
CA2058853
84 D>N No ClinGen
ExAC
gnomAD
rs1559110715
CA350330409
84 D>V No ClinGen
Ensembl
CA2058854
rs767765738
87 Q>* No ClinGen
ExAC
gnomAD
CA350330436
rs1574839147
88 G>V No ClinGen
Ensembl
CA2058855
rs750823228
91 W>R No ClinGen
ExAC
gnomAD
TCGA novel 92 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_042017 93 K>E a renal clear cell carcinoma sample; somatic mutation [UniProt] No UniProt
rs1559110879
CA350330490
94 S>N No ClinGen
Ensembl
CA63970155
rs997863043
96 P>A No ClinGen
Ensembl
CA2058883
rs769653908
99 A>T No ClinGen
ExAC
gnomAD
CA2058884
rs780051899
100 A>V No ClinGen
ExAC
gnomAD
CA63970199
rs955385484
102 S>F No ClinGen
Ensembl
rs768959454
CA2058886
102 S>T No ClinGen
ExAC
gnomAD
CA2058887
rs138441846
103 Y>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA350330576
rs1215121253
107 E>D No ClinGen
gnomAD
rs761901115
CA2058889
110 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs761901115
CA350330594
110 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs772172729
CA2058890
111 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA2058891
rs772172729
111 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs761187271
CA350330604
112 G>A No ClinGen
ExAC
gnomAD
CA2058892
rs761187271
112 G>D No ClinGen
ExAC
gnomAD
rs1236379760
CA350330603
112 G>S No ClinGen
gnomAD
CA350330614
rs1418823906
114 Y>F No ClinGen
gnomAD
rs766721567
CA2058893
114 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA2058895
rs149189465
115 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350330630
rs1401190918
117 V>I No ClinGen
TOPMed
gnomAD
CA350330632
rs1401190918
117 V>L No ClinGen
TOPMed
gnomAD
CA350330652
rs1246886614
120 G>R No ClinGen
TOPMed
rs1357281663
CA350330657
120 G>V No ClinGen
TOPMed
CA350330659
rs1333673579
121 I>V No ClinGen
gnomAD
rs1336667433
CA350330713
126 G>E No ClinGen
gnomAD
rs527598721
CA63973113
127 Q>* No ClinGen
Ensembl
VAR_042018
rs56135556
CA2058918
127 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs941976314
CA63973118
128 L>P No ClinGen
gnomAD
rs1273544586
CA350330722
128 L>V No ClinGen
gnomAD
CA350330726
rs1173346860
129 V>M No ClinGen
TOPMed
CA350330734
rs1455786661
130 A>P No ClinGen
TOPMed
rs749992898
CA2058920
133 V>I No ClinGen
ExAC
gnomAD
CA2058921
rs565829983
135 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs780089190
CA2058922
138 A>V No ClinGen
ExAC
gnomAD
CA2058923
rs753748222
141 G>R No ClinGen
ExAC
gnomAD
CA2058924
rs139496477
142 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2058926
rs748390519
COSM356930
143 P>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1478949554
CA350330826
144 F>L No ClinGen
gnomAD
CA2058927
rs758687247
147 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs368163684
CA2058928
147 I>T No ClinGen
ESP
ExAC
gnomAD
COSM476758
CA2058929
rs767930884
148 R>* kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2058930
rs370446004
148 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA350330863
rs1397696820
150 A>P No ClinGen
gnomAD
rs772931373
CA2058955
151 S>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 151 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149717877
CA63979608
152 L>H No ClinGen
ESP
CA2058957
rs757611284
152 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1311561065
CA350331743
153 L>P No ClinGen
gnomAD
CA350331749
rs1223173559
154 K>R No ClinGen
gnomAD
CA2058959
rs148470814
157 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2058960
rs139500243
158 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2058962
rs758152470
159 A>V No ClinGen
ExAC
gnomAD
rs763883378
CA2058963
160 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs757484525
CA2058965
163 L>P No ClinGen
ExAC
gnomAD
rs144339303
CA2058967
164 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144339303
CA2058966
164 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780384158
CA2058969
165 H>Q No ClinGen
ExAC
gnomAD
rs756240601
CA2058968
165 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA350331828
rs1290189748
167 I>V No ClinGen
gnomAD
rs201611168
CA2058970
170 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA350331866
rs1310076004
172 E>G No ClinGen
gnomAD
rs1384763997
CA350331870
173 T>A No ClinGen
gnomAD
rs1302097834
CA350331873
173 T>K No ClinGen
TOPMed
rs779480760
CA350331893
COSM3798514
176 F>L urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs199511628
CA350331896
177 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs199511628
CA2058973
177 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2058976
rs372570537
181 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767348456
CA2059001
182 H>R No ClinGen
ExAC
gnomAD
CA2059000
rs761474386
182 H>Y No ClinGen
ExAC
gnomAD
rs199869929
CA2059002
183 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2059003
rs761014003
183 T>K No ClinGen
ExAC
gnomAD
rs766563923
CA2059004
184 D>H No ClinGen
ExAC
gnomAD
rs191446880
CA2059005
185 L>M No ClinGen
1000Genomes
ExAC
gnomAD
CA63980116
rs1041576494
185 L>P No ClinGen
TOPMed
rs890208304
CA63980118
188 Y>C No ClinGen
TOPMed
rs765790847
CA2059007
CA63980139
189 M>I No ClinGen
ExAC
gnomAD
rs755520069
CA63980120
189 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1385004995
CA350331986
189 M>T No ClinGen
gnomAD
CA2059006
rs755520069
189 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA350331999
rs1324299118
191 Q>R No ClinGen
gnomAD
CA350332007
rs753282798
192 H>L No ClinGen
ExAC
gnomAD
rs753282798
CA2059008
192 H>P No ClinGen
ExAC
gnomAD
CA350332006
rs753282798
192 H>R No ClinGen
ExAC
gnomAD
rs778216084
CA2059010
193 P>R No ClinGen
ExAC
gnomAD
rs1415880447
CA350332011
193 P>S No ClinGen
TOPMed
CA350332016
rs1205720099
194 G>R No ClinGen
gnomAD
CA2059012
rs745500022
195 G>E No ClinGen
ExAC
gnomAD
rs1179844780
CA350332041
198 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 198 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755801738
CA2059013
199 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2059014
rs373766977
200 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373766977
CA2059015
200 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350332068
rs1463306383
202 R>I No ClinGen
TOPMed
CA63980172
rs748169761
202 R>S No ClinGen
Ensembl
CA350332609
rs1419007633
203 L>V No ClinGen
gnomAD
CA2059038
rs772862888
205 M>T No ClinGen
ExAC
gnomAD
rs115873067
CA2059042
210 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2059041
rs115873067
210 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs137880666
CA2059040
210 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1250795141
CA350332865
211 G>A No ClinGen
gnomAD
CA2059044
rs775709227
211 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs763343769
CA350332875
213 A>E No ClinGen
ExAC
gnomAD
rs763343769
CA2059045
213 A>V No ClinGen
ExAC
gnomAD
CA350332904
rs1216105983
217 H>R No ClinGen
gnomAD
CA350332911
rs1236577698
218 Q>P No ClinGen
gnomAD
CA350332923
rs142697496
219 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350332918
rs1230984459
219 H>Y No ClinGen
TOPMed
rs1385628938
CA350332927
220 V>A No ClinGen
gnomAD
rs767881343
CA350332925
220 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs767881343
CA2059049
220 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA350332937
rs1234294106
222 H>Y No ClinGen
TOPMed
rs1030353473
CA63986919
223 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 225 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1192078063
CA350332995
230 L>S No ClinGen
TOPMed
gnomAD
rs778256691
CA2059052
231 L>F No ClinGen
ExAC
gnomAD
rs777726730
CA2059056
232 I>N No ClinGen
ExAC
gnomAD
rs777726730
CA2059055
232 I>T No ClinGen
ExAC
gnomAD
CA63986947
rs773075862
233 S>G No ClinGen
TOPMed
CA350333028
rs1454781903
235 L>R No ClinGen
gnomAD
CA350333029
rs1431388342
COSM1737430
236 G>R central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
rs770796387
CA2059057
237 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA2059058
rs781193371
238 L>F No ClinGen
ExAC
gnomAD
CA350333060
rs1351989133
241 A>T No ClinGen
gnomAD
CA63986965
rs370176322
242 D>H No ClinGen
ESP
TOPMed
TCGA novel 244 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350333081
rs1223903290
244 G>S No ClinGen
gnomAD
CA2059083
rs772617356
246 A>S No ClinGen
ExAC
gnomAD
rs142416956
CA350333259
247 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142416956
CA2059085
247 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2059084
rs145253830
247 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350333276
rs1361391523
248 A>V No ClinGen
TOPMed
CA350333283
rs1200197383
249 K>E No ClinGen
TOPMed
gnomAD
rs1200197383
CA350333281
249 K>Q No ClinGen
TOPMed
gnomAD
rs956671327
CA63987983
250 S>C No ClinGen
TOPMed
gnomAD
rs201045225
CA63987978
250 S>T No ClinGen
Ensembl
CA2059087
rs775154649
252 P>R No ClinGen
ExAC
gnomAD
rs762575378
CA2059088
253 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1397574344
CA350333366
254 Q>R No ClinGen
gnomAD
CA2059090
rs34851370
VAR_042019
255 T>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs34851370
CA2059091
255 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1416051616
CA350333399
256 Y>C No ClinGen
Ensembl
rs977546470
CA63988000
257 S>T No ClinGen
Ensembl
rs756847196
CA2059094
258 S>L No ClinGen
ExAC
gnomAD
CA2059095
rs767519586
260 V>F No ClinGen
ExAC
gnomAD
CA2059097
COSM719742
rs755877050
261 V>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM74102
CA2059098
rs755877050
261 V>M ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA350333487
rs1574876393
262 T>P No ClinGen
Ensembl
TCGA novel
rs1224713115
CA350333539
264 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA2059101
rs191987869
266 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138476978
COSM1404545
CA2059099
266 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA63988049
rs866522241
267 P>T No ClinGen
Ensembl
TCGA novel 269 D>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748178452
CA2059102
270 A>P No ClinGen
ExAC
gnomAD
CA2059103
rs772170627
275 T>S No ClinGen
ExAC
gnomAD
COSM614
CA350333648
VAR_042020
rs1490814436
276 E>D breast a breast infiltrating ductal carcinoma sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
TOPMed
dbSNP
gnomAD
rs773644696
CA2059104
276 E>G No ClinGen
ExAC
CA2059105
rs747486064
277 Y>D No ClinGen
ExAC
gnomAD
rs61383268
CA63988108
279 S>F No ClinGen
Ensembl
rs578060023
CA2059107
279 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs201420169
CA2059108
280 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2059109
rs763892276
281 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs774174305
CA2059110
282 D>N No ClinGen
ExAC
gnomAD
CA63988143
rs1050810677
283 I>V No ClinGen
TOPMed
gnomAD
CA63988159
rs866609774
284 W>* No ClinGen
Ensembl
rs200379340
CA2059133
284 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350333772
rs1303238674
284 W>R No ClinGen
gnomAD
rs760638025
CA2059134
285 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs766177958
CA2059135
285 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA350392523
rs1574896451
286 A>T No ClinGen
Ensembl
CA2059136
rs757899266
288 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs1017727754
CA64493510
289 I>T No ClinGen
TOPMed
gnomAD
TCGA novel 290 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2059137
rs187005870
292 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1429753554
CA350392674
295 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2059139
rs752903564
297 Q>* No ClinGen
ExAC
gnomAD
rs143327698
CA64493511
298 P>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA2059140
rs758689434
300 F>S No ClinGen
ExAC
gnomAD
rs1268413699
CA350393300
301 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 301 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777880215
CA2059141
303 V>I No ClinGen
ExAC
gnomAD
rs1470160703
CA350393343
305 N>H No ClinGen
gnomAD
CA2059143
COSM3838311
rs757384628
305 N>S Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2059145
rs143486430
306 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350393364
rs143486430
306 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350393401
rs1344912578
309 Q>* No ClinGen
gnomAD
rs1334212514
CA350393408
309 Q>H No ClinGen
gnomAD
TCGA novel 311 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2059147
rs780630778
314 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA350393486
rs1231737320
315 E>* No ClinGen
gnomAD
CA2059172
rs746688089
316 V>A No ClinGen
ExAC
CA2059171
rs199639155
316 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776273369
CA2059174
320 P>S No ClinGen
ExAC
gnomAD
CA2059176
rs1363462142
322 E>G No ClinGen
TOPMed
CA2059178
rs769775034
324 T>A No ClinGen
ExAC
gnomAD
CA2059179
rs775432947
324 T>I No ClinGen
ExAC
gnomAD
CA64494279
rs367719089
325 W>C No ClinGen
Ensembl
COSM1200546
CA2059181
rs763959488
326 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1395650456
CA350393584
328 V>A No ClinGen
TOPMed
CA2059184
rs550695496
333 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1451626749
CA350393622
334 Y>C No ClinGen
gnomAD
CA64494280
rs1033625521
334 Y>H No ClinGen
Ensembl
CA2059185
rs371256915
335 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2059186
rs371256915
335 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 337 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2059246
rs751966765
338 W>C No ClinGen
ExAC
gnomAD
rs370819607
CA2059245
338 W>R No ClinGen
ESP
ExAC
gnomAD
rs201605804
CA2059249
342 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA350393682
rs1299543287
342 P>T No ClinGen
gnomAD
rs549338953
CA64496081
343 T>A No ClinGen
Ensembl
CA2059250
rs375122798
343 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350393691
rs1411204752
344 P>T No ClinGen
TOPMed
CA64496082
rs370382391
345 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
CA350393699
rs571966218
345 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2059253
rs571966218
345 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777690518
CA2059255
346 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA64496083
rs1002530733
346 S>R No ClinGen
Ensembl
rs1195860899
CA350393735
351 W>* No ClinGen
gnomAD
rs1035442017
CA64496084
351 W>* No ClinGen
gnomAD
CA350393738
rs1035442017
351 W>C No ClinGen
gnomAD
rs757153144
CA2059257
352 N>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 352 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169458052
CA350393764
353 R>S No ClinGen
TOPMed
gnomAD
CA2059295
rs139951366
355 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350393781
rs762488718
CA350393780
356 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1364986256
CA350393786
357 V>G No ClinGen
gnomAD
CA2059297
rs763714093
359 E>K No ClinGen
ExAC
gnomAD
CA350393807
rs1382075589
361 E>K No ClinGen
gnomAD
CA64496904
rs200366047
362 D>H No ClinGen
gnomAD
CA350393815
rs200366047
362 D>N No ClinGen
gnomAD
rs767334097
CA2059300
363 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs369311448
CA2059303
365 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1248143640
CA350393838
366 Q>* No ClinGen
gnomAD
rs1257570669
CA350393847
367 M>L No ClinGen
TOPMed
rs1488594759
CA350393858
368 L>R No ClinGen
gnomAD
rs754083630
CA2059304
370 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs755029586
CA2059305
371 F>S No ClinGen
ExAC
gnomAD
CA2059306
rs779004408
374 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA350393896
rs779004408
374 D>V No ClinGen
ExAC
TOPMed
gnomAD
COSM442121
CA2059307
rs145205966
375 R>C breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2059308
rs189350681
375 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs189350681
CA350393901
375 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA64496905
rs61995877
376 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2059311
rs61995877
376 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2059310
rs61995877
376 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1401135209
CA350393913
378 A>D No ClinGen
TOPMed
CA2059314
rs144726331
378 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2059313
rs144726331
378 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 379 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1372429754
CA350393936
381 A>G No ClinGen
gnomAD
CA2059315
rs201179449
383 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1156560901
CA350393954
384 H>R No ClinGen
TOPMed
rs975234784
CA64496906
385 D>V No ClinGen
TOPMed
gnomAD
TCGA novel 385 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2059317
rs767293718
388 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA350393980
rs767293718
388 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1291395821
CA350393987
389 A>T No ClinGen
gnomAD
rs1321952810
CA350393994
390 L>V No ClinGen
TOPMed
gnomAD
CA350394008
rs1449136461
392 S>C No ClinGen
TOPMed
TCGA novel 392 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760340387
CA2059319
393 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 395 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266046958
CA350394023
395 Y>H No ClinGen
gnomAD
rs754028788
CA2059321
397 L>F No ClinGen
ExAC
gnomAD
CA350394042
rs1242526154
397 L>P No ClinGen
gnomAD
CA350394039
rs754028788
397 L>V No ClinGen
ExAC
gnomAD
CA350394056
rs755260494
399 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1471769325
CA350394050
399 D>H No ClinGen
gnomAD
CA350394093
rs1343015733
400 E>G No ClinGen
gnomAD
rs1574948377
CA350394099
401 E>* No ClinGen
Ensembl
rs370638439
CA2059362
401 E>A No ClinGen
ESP
ExAC
gnomAD
CA350394103
rs1265606022
401 E>D No ClinGen
gnomAD
TCGA novel 402 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350394105
rs1453537815
402 S>P No ClinGen
gnomAD
rs1559154287
CA350394112
403 L>S No ClinGen
Ensembl
rs776552584
CA2059363
403 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1241837323
CA350394117
404 F>L No ClinGen
gnomAD
rs759284385
CA2059364
405 T>A No ClinGen
ExAC
gnomAD
CA2059366
rs542650426
406 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1559154303
CA539005352
406 V>P No ClinGen
Ensembl
CA350394144
rs1251202502
408 G>R No ClinGen
TOPMed
CA2059367
rs113623048
410 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350394160
rs1314357119
410 R>S No ClinGen
TOPMed
rs1429884522
CA350394175
413 P>A No ClinGen
gnomAD
rs142602589
CA2059368
414 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764072704
CA2059369
415 M>I No ClinGen
ExAC
gnomAD
CA2059370
rs751603570
418 L>H No ClinGen
ExAC
gnomAD
CA350394211
rs1388215631
418 L>I No ClinGen
gnomAD
rs757420709
CA2059371
419 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs750991365
CA64498063
421 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs750991365
CA2059374
421 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs200263338
CA2059376
423 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs201587988
CA64498064
425 G>V No ClinGen
TOPMed
gnomAD
rs113092152
CA64498065
426 H>Q No ClinGen
Ensembl
CA2059377
rs747751660
426 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1210612705
CA350394272
427 H>Q No ClinGen
gnomAD
CA2059378
rs375313939
428 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1351202760
CA350394277
428 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2059380
rs746460384
430 Q>L No ClinGen
ExAC
gnomAD
CA350394330
rs1479911782
435 W>* No ClinGen
TOPMed
TCGA novel 436 W>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q96Q40

4 regional properties for Q96Q40

Type Name Position InterPro Accession
domain Protein kinase domain 103 - 387 IPR000719
active_site Serine/threonine-protein kinase, active site 220 - 232 IPR008271
binding_site Protein kinase, ATP binding site 109 - 132 IPR017441
domain CDK15, catalytic domain 102 - 387 IPR042761

Functions

Description
EC Number 2.7.11.22 Protein-serine/threonine kinases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
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.
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.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cyclin binding Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis.
cyclin-dependent protein serine/threonine kinase activity Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
metal ion binding Binding to a metal ion.
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.

2 GO annotations of biological process

Name Definition
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of transcription involved in G1/S transition of mitotic cell cycle Any process that regulates transcription such that the target genes are involved in the transition between G1 and S phase of the mitotic cell cycle.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q00526 CDK3 Cyclin-dependent kinase 3 Homo sapiens (Human) PR
Q15131 CDK10 Cyclin-dependent kinase 10 Homo sapiens (Human) PR
Q9UQ88 CDK11A Cyclin-dependent kinase 11A Homo sapiens (Human) PR
O94921 CDK14 Cyclin-dependent kinase 14 Homo sapiens (Human) PR
Q00537 CDK17 Cyclin-dependent kinase 17 Homo sapiens (Human) PR
P49336 CDK8 Cyclin-dependent kinase 8 Homo sapiens (Human) PR
Q9BWU1 CDK19 Cyclin-dependent kinase 19 Homo sapiens (Human) PR
P50750 CDK9 Cyclin-dependent kinase 9 Homo sapiens (Human) PR
Q5MAI5 CDKL4 Cyclin-dependent kinase-like 4 Homo sapiens (Human) PR
Q00532 CDKL1 Cyclin-dependent kinase-like 1 Homo sapiens (Human) PR
Q92772 CDKL2 Cyclin-dependent kinase-like 2 Homo sapiens (Human) PR
Q8IZL9 CDK20 Cyclin-dependent kinase 20 Homo sapiens (Human) PR
P21127 CDK11B Cyclin-dependent kinase 11B Homo sapiens (Human) PR
O35495 Cdk14 Cyclin-dependent kinase 14 Mus musculus (Mouse) PR
Q8K0D0 Cdk17 Cyclin-dependent kinase 17 Mus musculus (Mouse) PR
O35831 Cdk17 Cyclin-dependent kinase 17 Rattus norvegicus (Rat) PR
Q5Z754 CDKF-1 Cyclin-dependent kinase F-1 Oryza sativa subsp japonica (Rice) PR
Q9S713 STN7 Serine/threonine-protein kinase STN7, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
A4IIW7 cdk14 Cyclin-dependent kinase 14 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q1RLU9 cdk15 Cyclin-dependent kinase 15 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGQELCAKTV QPGCSCYHCS EGGEAHSCRR SQPETTEAAF KLTDLKEASC SMTSFHPRGL
70 80 90 100 110 120
QAARAQKFKS KRPRSNSDCF QEEDLRQGFQ WRKSLPFGAA SSYLNLEKLG EGSYATVYKG
130 140 150 160 170 180
ISRINGQLVA LKVISMNAEE GVPFTAIREA SLLKGLKHAN IVLLHDIIHT KETLTFVFEY
190 200 210 220 230 240
MHTDLAQYMS QHPGGLHPHN VRLFMFQLLR GLAYIHHQHV LHRDLKPQNL LISHLGELKL
250 260 270 280 290 300
ADFGLARAKS IPSQTYSSEV VTLWYRPPDA LLGATEYSSE LDIWGAGCIF IEMFQGQPLF
310 320 330 340 350 360
PGVSNILEQL EKIWEVLGVP TEDTWPGVSK LPNYNPEWFP LPTPRSLHVV WNRLGRVPEA
370 380 390 400 410 420
EDLASQMLKG FPRDRVSAQE ALVHDYFSAL PSQLYQLPDE ESLFTVSGVR LKPEMCDLLA
430
SYQKGHHPAQ FSKCW