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

3 structures for Q96GN5

Entry ID Method Resolution Chain Position Source
5YI9 NMR - A 56-91 PDB
6EMO NMR - A 1-32 PDB
AF-Q96GN5-F1 Predicted AlphaFoldDB

452 variants for Q96GN5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA366962554
rs1409482952
4 A>E No ClinGen
TOPMed
gnomAD
CA366962551
rs1409482952
4 A>V No ClinGen
TOPMed
gnomAD
CA4184147
rs746210469
5 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs781561939
CA4184146
5 T>I No ClinGen
ExAC
gnomAD
rs771431727
CA4184145
6 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs747480102
CA4184144
6 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4184143
rs777855441
7 Y>C No ClinGen
ExAC
gnomAD
rs1472190727
CA366962517
8 Q>* No ClinGen
TOPMed
CA366961252
rs1370610908
10 P>S No ClinGen
TOPMed
CA366961243
rs1230005482
11 K>E No ClinGen
gnomAD
rs772671986
CA4184123
12 E>D No ClinGen
ExAC
gnomAD
rs1296380723
CA366961215
13 V>L No ClinGen
gnomAD
CA4184122
rs748214238
14 A>P No ClinGen
ExAC
gnomAD
rs1345517473
CA366961161
18 N>S No ClinGen
gnomAD
rs749525504
CA4184119
COSM1450000
19 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4184117
rs756998843
22 D>G No ClinGen
ExAC
gnomAD
rs899524730
CA155133132
22 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA366961109
rs1431671844
23 D>N No ClinGen
gnomAD
CA366961096
rs1360762453
24 E>A No ClinGen
TOPMed
gnomAD
rs1054194530
CA155133128
24 E>D No ClinGen
gnomAD
CA366961083
rs1192727640
25 E>A No ClinGen
gnomAD
CA366961076
rs1434048979
26 F>I No ClinGen
gnomAD
TCGA novel 27 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366961029
rs1276420267
30 R>* No ClinGen
TOPMed
CA366961026
rs1269833920
30 R>Q No ClinGen
gnomAD
rs751412582
CA4184116
31 D>N No ClinGen
ExAC
gnomAD
rs1337324374
CA366961008
32 D>N No ClinGen
TOPMed
CA155133126
rs750872071
32 D>V No ClinGen
Ensembl
CA4184114
rs144827468
34 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 35 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764733775
CA366960981
35 M>R No ClinGen
ExAC
gnomAD
rs764733775
CA4184111
35 M>T No ClinGen
ExAC
gnomAD
rs752165445
CA4184112
35 M>V No ClinGen
ExAC
gnomAD
CA4184110
rs759134896
36 E>K No ClinGen
ExAC
gnomAD
rs776257349
CA4184109
37 T>N No ClinGen
ExAC
gnomAD
rs766117501
CA4184108
38 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA366960964
rs766117501
38 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs760913603
CA4184107
39 S>A No ClinGen
ExAC
CA4184106
rs768051788
39 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA366960951
rs1407981551
40 S>L No ClinGen
gnomAD
rs1368782024
CA366960940
42 E>* No ClinGen
gnomAD
rs370547386
CA155133005
42 E>D No ClinGen
ESP
TOPMed
CA4184103
rs367734480
43 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200312608
CA4184102
43 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1379611223
CA366960927
44 C>G No ClinGen
gnomAD
rs140187169
CA4184099
45 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA155132950
VAR_083475
rs937337760
45 D>N No ClinGen
UniProt
TOPMed
dbSNP
CA366960911
rs746734289
46 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA4184098
rs746734289
46 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA4184097
rs777657303
50 L>V No ClinGen
ExAC
gnomAD
CA366960876
rs1200553972
51 E>D No ClinGen
gnomAD
rs752647964
CA4184095
53 G>R No ClinGen
ExAC
gnomAD
CA366960834
rs1322916643
56 Q>K No ClinGen
gnomAD
CA4184073
rs779644053
57 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1562624859
CA366960823
57 D>V No ClinGen
Ensembl
CA366960826
rs779644053
57 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4184072
rs146108005
59 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776664746
CA4184071
59 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4184070
rs767335629
61 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs200336698
CA4184069
62 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764648693
CA4184067
63 K>R No ClinGen
ExAC
gnomAD
rs764648693
CA4184068
63 K>T No ClinGen
ExAC
gnomAD
TCGA novel 67 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775368336
CA4184065
68 E>D No ClinGen
ExAC
gnomAD
CA366960752
rs1446192361
68 E>G No ClinGen
gnomAD
rs551496318
CA4184066
68 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA4184064
rs769933500
73 F>L No ClinGen
ExAC
gnomAD
CA366960707
rs1337631936
75 E>Q No ClinGen
TOPMed
TCGA novel 76 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759596331
CA4184063
76 D>N No ClinGen
ExAC
gnomAD
CA366960689
rs776912112
77 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4184062
rs776912112
77 T>S No ClinGen
ExAC
gnomAD
CA4184061
rs747912377
78 D>A No ClinGen
ExAC
gnomAD
CA4184059
rs778699445
78 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA4184060
rs747912377
78 D>V No ClinGen
ExAC
gnomAD
CA4184058
rs768537964
80 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs11554264
CA155128920
80 E>Q No ClinGen
Ensembl
rs749251554
CA4184057
83 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs755636513
CA4184054
90 S>G No ClinGen
ExAC
gnomAD
CA155128908
rs996618842
92 L>V No ClinGen
Ensembl
TCGA novel 94 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4184053
rs749967676
95 K>R No ClinGen
ExAC
gnomAD
CA366960564
rs1413500993
96 T>S No ClinGen
gnomAD
TCGA novel 97 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4184051
rs777560167
98 P>Q No ClinGen
ExAC
gnomAD
rs1391535076
CA366960552
98 P>S No ClinGen
gnomAD
CA4184050
rs751934843
99 E>K No ClinGen
ExAC
gnomAD
rs1200754339
CA366960539
100 V>A No ClinGen
gnomAD
CA4184049
rs764560607
100 V>I No ClinGen
ExAC
gnomAD
rs764560607
CA366960541
100 V>L No ClinGen
ExAC
gnomAD
CA4184047
rs753237975
101 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1177529152
CA366960533
101 M>T No ClinGen
TOPMed
rs1481060878
CA366960536
101 M>V No ClinGen
TOPMed
rs201577034
CA4184017
102 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4184014
rs370049835
103 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4184013
rs370049835
103 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 104 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1229485030
CA366960464
109 D>E No ClinGen
gnomAD
rs1246702633
CA366960463
110 D>N No ClinGen
TOPMed
rs745803542
CA4184011
111 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs745803542
CA366960451
111 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1583845890
CA366960446
112 K>R No ClinGen
Ensembl
CA366960442
rs1440789438
113 A>T No ClinGen
gnomAD
CA366960425
rs1359283401
115 L>F No ClinGen
gnomAD
CA366960427
rs1230853831
115 L>S No ClinGen
gnomAD
CA366960422
rs1335761865
116 V>L No ClinGen
TOPMed
gnomAD
CA366960423
rs1335761865
116 V>M No ClinGen
TOPMed
gnomAD
CA4184009
rs142981617
118 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366960395
rs746581280
119 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA366960391
rs1257002911
120 E>A No ClinGen
TOPMed
CA4184006
rs558132059
120 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs369568135
CA4184007
120 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4184005
rs137919998
122 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150333184
CA4184004
123 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4184002
rs1554295801
126 D>E No ClinGen
Ensembl
rs755449955
CA4184000
127 K>* No ClinGen
ExAC
gnomAD
TCGA novel 127 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376335429
CA4183999
129 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366960327
rs376335429
129 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750543368
CA4183997
130 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs750543368
CA4183996
130 P>R No ClinGen
ExAC
gnomAD
rs1583845753
CA366960312
132 R>G No ClinGen
Ensembl
rs767757196
CA4183995
132 R>S No ClinGen
ExAC
gnomAD
rs761972880
CA4183994
134 R>T No ClinGen
ExAC
gnomAD
rs752469383
CA366960270
135 S>A No ClinGen
ExAC
gnomAD
CA4183993
rs752469383
135 S>T No ClinGen
ExAC
gnomAD
CA366960262
rs1449937921
136 R>G No ClinGen
TOPMed
gnomAD
rs972761529
CA155126949
136 R>T No ClinGen
Ensembl
rs759460317
CA4183991
137 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs761733292 137 R>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA4183988
rs776702624
139 S>N No ClinGen
ExAC
gnomAD
rs200891942
CA4183987
140 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs987310773
CA366960195
141 G>R No ClinGen
gnomAD
rs987310773
CA155126935
141 G>S No ClinGen
gnomAD
CA4183986
rs371638574
142 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 142 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366960173
rs1240634203
143 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA4183985
rs141140287
143 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366960164
rs1442959759
144 V>I No ClinGen
gnomAD
rs1345658094
CA366960125
COSM1755212
147 Q>* urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
CA155126924
rs909753364
147 Q>R No ClinGen
TOPMed
rs779282166
CA4183982
148 F>I No ClinGen
ExAC
gnomAD
CA155126919
rs983978413
148 F>L No ClinGen
TOPMed
gnomAD
rs768997741
CA4183981
COSM1088472
150 T>A Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs367949098
CA155126911
150 T>I No ClinGen
1000Genomes
ESP
gnomAD
rs1215614532
CA366960056
152 K>T No ClinGen
gnomAD
CA4183980
rs749722138
153 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1291340195
CA366960030
154 A>V No ClinGen
gnomAD
CA4183979
rs780509440
155 N>D No ClinGen
ExAC
gnomAD
rs148205645
CA4183978
155 N>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366960000
rs750462397
157 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA366959995
rs1436905850
157 P>R No ClinGen
gnomAD
CA4183977
rs750462397
157 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4183976
rs781136077
158 D>H No ClinGen
ExAC
gnomAD
CA4183975
rs143179934
159 K>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1207686990
CA366959964
160 N>H No ClinGen
gnomAD
rs1437040046
CA366959959
160 N>S No ClinGen
gnomAD
TCGA novel 161 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759370631
CA4183972
164 E>K No ClinGen
ExAC
gnomAD
CA4183970
rs142227347
166 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760730241
CA4183969
167 F>L No ClinGen
ExAC
rs771498809
CA4183965
168 S>C No ClinGen
ExAC
gnomAD
CA4183963
rs773872806
170 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4183962
rs374550676
171 R>C Variant assessed as Somatic; 9.275e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM600619
CA4183961
rs201734057
171 R>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366959820
rs374550676
171 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366959790
rs1562622649
173 Q>R No ClinGen
Ensembl
rs1583845471
CA366959768
175 E>K No ClinGen
Ensembl
rs528806227
CA4183960
177 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA366959712
rs1358091441
179 I>L No ClinGen
TOPMed
gnomAD
rs760707123
CA155126861
179 I>T No ClinGen
Ensembl
rs1358091441
CA366959714
179 I>V No ClinGen
TOPMed
gnomAD
COSM279752
rs770218756
CA4183959
180 L>I Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA155126856
rs1031964759
181 E>Q No ClinGen
Ensembl
CA4183958
rs746374294
182 R>G No ClinGen
ExAC
gnomAD
CA366959676
rs1301925219
182 R>T No ClinGen
TOPMed
rs1294527705
CA366959672
183 K>Q No ClinGen
gnomAD
rs781750531
CA366959660
184 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs781750531
CA4183957
184 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA4183954
rs757277115
187 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs35281045
CA155126842
VAR_050776
187 R>S No ClinGen
UniProt
Ensembl
dbSNP
CA4183953
rs747150378
187 R>T No ClinGen
ExAC
gnomAD
rs778114786
CA366959636
188 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs778114786
CA4183952
188 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs904686660
CA155126837
188 Q>H No ClinGen
TOPMed
CA366959617
rs1364964545
191 Q>K No ClinGen
gnomAD
CA4183951
rs758712356
192 R>K No ClinGen
ExAC
gnomAD
rs1463675694
CA366959600
193 E>A No ClinGen
gnomAD
rs146976111
CA366959590
194 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4183949
rs560042862
194 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs201363125
CA155126826
195 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201363125
CA4183947
195 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201363125
CA366959586
195 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1046584240
CA155126821
196 T>A No ClinGen
TOPMed
CA366959581
rs1370696949
196 T>I No ClinGen
gnomAD
rs1490331497
CA366959574
198 E>* No ClinGen
gnomAD
CA366959559
rs1193503419
200 E>K No ClinGen
TOPMed
rs761198537
CA4183945
201 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs761198537
CA366959548
201 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA4183944
rs371377746
202 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200919907
CA4183943
203 S>C No ClinGen
ExAC
gnomAD
rs200919907
CA366959534
203 S>F No ClinGen
ExAC
gnomAD
rs563675406
CA366959533
204 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4183941
rs775772395
204 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA366959532
rs775772395
204 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs563675406
CA4183942
204 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1333079098
CA366959525
205 D>V No ClinGen
TOPMed
rs1281141176
CA366959518
206 E>G No ClinGen
gnomAD
CA366959522
rs1313733569
206 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1289023037
CA366959486
210 S>N No ClinGen
TOPMed
gnomAD
CA366959487
rs1289023037
210 S>T No ClinGen
TOPMed
gnomAD
rs746309699
CA4183939
211 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs767651522
CA366959443
215 L>M No ClinGen
TOPMed
gnomAD
rs767651522
CA155126790
215 L>V No ClinGen
TOPMed
gnomAD
rs1408673340
CA366959418
217 R>K No ClinGen
gnomAD
CA366959406
rs1209896700
218 T>S No ClinGen
Ensembl
rs758630757
CA4183934
219 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA4183935
rs778026662
219 M>V No ClinGen
ExAC
gnomAD
CA366959360
rs1184659291
221 I>M No ClinGen
gnomAD
CA366959351
rs1052204522
222 K>N No ClinGen
TOPMed
gnomAD
rs755859959
CA4183931
224 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs750275136
CA4183930
225 K>R No ClinGen
ExAC
gnomAD
rs1583845151
CA366959289
227 M>I No ClinGen
Ensembl
rs188087480
CA4183894
230 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369952841
CA4183892
233 A>E No ClinGen
ExAC
gnomAD
rs867714547
CA155126094
233 A>S No ClinGen
Ensembl
rs369952841
COSM746438
CA4183891
233 A>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA366959135
rs1407369563
234 E>D No ClinGen
TOPMed
gnomAD
rs1464271553
CA366959145
234 E>K No ClinGen
TOPMed
CA366959119
rs1302003238
236 N>D No ClinGen
gnomAD
CA155126078
rs976023639
236 N>K No ClinGen
Ensembl
rs770755131
CA4183890
237 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366959060
rs1474948765
241 F>I No ClinGen
gnomAD
CA4183888
rs201701551
242 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM243587
rs200458641
CA4183886
244 V>A prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA366959029
rs1489841906
244 V>I No ClinGen
gnomAD
COSM159878
CA366959018
rs1221878454
245 R>* breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs771556634
CA155126048
245 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs771556634
CA4183885
245 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs754532598
CA4183884
247 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA366959003
rs754532598
247 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs567337409
CA4183883
248 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA366958992
rs1339132951
248 T>I No ClinGen
gnomAD
CA366958977
rs1255662567
250 A>P No ClinGen
TOPMed
rs141349806
CA4183882
250 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4183881
rs540748332
251 S>F No ClinGen
ExAC
gnomAD
rs745529677
CA4183842
254 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1242922051
CA366958871
255 T>I No ClinGen
gnomAD
CA4183841
rs560390424
256 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA366958867
rs1319308700
256 V>L No ClinGen
gnomAD
CA155125865
COSM338028
rs922366893
258 R>Q lung [Cosmic] No ClinGen
cosmic curated
Ensembl
CA4183840
rs757664469
COSM1088470
258 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366958835
rs1583842976
259 A>G No ClinGen
Ensembl
CA366958840
rs145238615
259 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4183839
rs145238615
259 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA155125861
rs898050182
260 F>L No ClinGen
TOPMed
gnomAD
CA366958817
rs763552835
261 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA4183837
COSM1698405
rs763552835
261 S>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs764612197
CA4183838
261 S>T No ClinGen
ExAC
gnomAD
rs1432782295
CA366958790
264 Q>E No ClinGen
gnomAD
rs759666563
CA4183835
CA4183834
264 Q>H No ClinGen
ExAC
gnomAD
CA4183833
rs749671239
265 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs377604487
CA4183832
266 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4183828
rs762805490
267 R>Q No ClinGen
ExAC
gnomAD
CA4183829
COSM159877
rs768599738
267 R>W breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA155125816
rs1045499113
268 R>C No ClinGen
TOPMed
gnomAD
CA4183827
rs775082493
268 R>H No ClinGen
ExAC
gnomAD
CA366958750
rs775082493
268 R>P No ClinGen
ExAC
gnomAD
rs1240817956
CA366958740
269 M>T No ClinGen
gnomAD
CA366958746
rs1213958691
269 M>V No ClinGen
TOPMed
CA366958726
rs1583842870
270 N>T No ClinGen
Ensembl
CA4183824
rs780969974
271 P>R No ClinGen
ExAC
gnomAD
rs948414964
CA155125794
272 T>A No ClinGen
TOPMed
gnomAD
rs770728898
CA366958703
272 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA4183823
rs770728898
272 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs139249411
CA4183822
273 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1295990655
CA366958696
274 S>G No ClinGen
gnomAD
rs1216067523
CA366958694
274 S>N No ClinGen
gnomAD
rs1583842817
CA366958690
274 S>R No ClinGen
Ensembl
rs778002499
COSM1449998
CA4183821
275 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1366267269
CA366958683
276 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4183818
rs779466315
276 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1337148711
CA366958674
278 P>S No ClinGen
TOPMed
gnomAD
CA366958672
rs1337148711
278 P>T No ClinGen
TOPMed
gnomAD
CA155125767
rs1054503511
284 E>G No ClinGen
TOPMed
rs372997607
CA4183816
284 E>Q No ClinGen
ESP
ExAC
gnomAD
CA366958627
rs1354316523
285 N>H No ClinGen
gnomAD
CA366958621
rs924511731
CA155125759
285 N>K No ClinGen
TOPMed
gnomAD
CA366958623
rs1282404958
285 N>S No ClinGen
TOPMed
gnomAD
CA366958624
rs1282404958
285 N>T No ClinGen
TOPMed
gnomAD
CA4183814
rs760840017
286 F>Y No ClinGen
ExAC
gnomAD
CA366958607
rs1291042776
288 V>I No ClinGen
TOPMed
rs762865786
CA4183811
290 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA366958591
rs762865786
290 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4183808
rs375745418
291 A>T No ClinGen
ExAC
gnomAD
CA4183807
rs776311696
291 A>V No ClinGen
ExAC
gnomAD
TCGA novel 291 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1583842663
CA366958583
292 K>T No ClinGen
Ensembl
CA366958575
rs770546760
293 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1224029346
CA366958576
293 F>V No ClinGen
gnomAD
CA4183805
rs770546760
293 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs746650414
CA4183804
294 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs777536863
CA4183803
294 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1235471317
CA366958565
295 E>K No ClinGen
TOPMed
rs905028335
CA155125680
296 E>G No ClinGen
Ensembl
CA4183801
rs748589038
296 E>K No ClinGen
ExAC
gnomAD
rs140167617
CA4183800
298 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369531494
CA4183798
301 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780113859
CA4183797
301 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1250616458
CA366958503
304 K>* No ClinGen
gnomAD
CA4183795
rs750600045
304 K>N No ClinGen
ExAC
gnomAD
rs767849344
CA4183794
305 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366958497
rs767849344
305 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs758104439
CA366958490
306 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs758104439
CA4183793
306 I>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 307 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1583841781
CA366958449
310 C>* No ClinGen
Ensembl
COSM1088468
rs371749596
CA4183766
311 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA4183767
rs772804561
311 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4183765
rs761462775
312 E>Q No ClinGen
ExAC
gnomAD
CA4183763
rs768995761
315 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs768995761
CA366958422
315 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs949363780
CA155125095
315 R>Q No ClinGen
TOPMed
gnomAD
rs775830609
CA4183761
316 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4183762
rs775830609
316 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4183760
rs770354618
316 R>H No ClinGen
ExAC
gnomAD
CA366958417
rs770354618
316 R>L No ClinGen
ExAC
gnomAD
CA4183759
rs745894405
317 H>R No ClinGen
ExAC
gnomAD
rs368758057
CA4183758
318 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4183757
COSM485196
rs146158399
318 R>H kidney [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs368758057
CA366958408
318 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142943530
CA366958405
319 I>L No ClinGen
ESP
ExAC
gnomAD
rs142943530
CA4183756
319 I>V No ClinGen
ESP
ExAC
gnomAD
CA155125027
rs1018175819
320 S>F No ClinGen
Ensembl
rs1006484019
CA155125024
321 S>C No ClinGen
Ensembl
rs754786484
CA4183754
323 R>L No ClinGen
ExAC
gnomAD
rs754786484
CA4183755
323 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA366958381
rs1157365721
323 R>W No ClinGen
TOPMed
gnomAD
rs781742118
CA155125018
324 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1241259754
CA366958359
327 D>N No ClinGen
TOPMed
TCGA novel 328 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4183752
rs540501423
328 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4183750
rs377233838
330 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA155125009
rs377233838
330 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs189760165
CA4183749
331 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA155125005
rs891581588
331 E>Q No ClinGen
Ensembl
CA4183748
rs761371148
332 D>H No ClinGen
ExAC
gnomAD
rs1162307732
CA366958304
335 N>D No ClinGen
gnomAD
CA155124989
rs925547232
336 V>I No ClinGen
TOPMed
gnomAD
CA366958289
rs1454648321
337 A>D No ClinGen
TOPMed
CA4183747
rs751210112
338 I>V No ClinGen
ExAC
gnomAD
rs1583841581
CA366958279
339 T>A No ClinGen
Ensembl
CA366958274
rs1190928937
340 V>I No ClinGen
gnomAD
rs763777079
CA366958268
COSM1088467
341 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4183746
rs763777079
341 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs770133053
CA4183743
344 I>M No ClinGen
ExAC
gnomAD
rs775952516
CA4183744
344 I>V No ClinGen
ExAC
gnomAD
rs760100535
CA4183742
345 Y>C No ClinGen
ExAC
gnomAD
CA366958240
rs760100535
345 Y>F No ClinGen
ExAC
gnomAD
rs1381312612
CA366958224
347 K>R No ClinGen
TOPMed
rs1583841542
CA917961029
347 K>R No ClinGen
Ensembl
CA4183741
rs777058471
348 V>L No ClinGen
ExAC
gnomAD
rs531936007
CA155123616
351 N>H No ClinGen
TOPMed
gnomAD
rs779062145
CA366958187
351 N>K No ClinGen
ExAC
gnomAD
TCGA novel 352 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148567671
CA155123609
352 T>M No ClinGen
ESP
TOPMed
gnomAD
rs1181499059
CA366958172
354 H>Y No ClinGen
TOPMed
rs745692053
CA4183713
357 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs745692053
CA366958148
357 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1218303057
CA366958146
357 R>P No ClinGen
gnomAD
rs757215983
CA4183711
360 T>S No ClinGen
ExAC
CA366958118
rs144495438
361 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777278383
CA4183708
361 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 362 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1356964066
CA366958100
364 K>T No ClinGen
TOPMed
CA366958089
rs1338520760
366 V>M No ClinGen
TOPMed
gnomAD
CA366958074
rs1358467264
368 R>P No ClinGen
TOPMed
gnomAD
CA366958073
rs1358467264
368 R>Q No ClinGen
TOPMed
gnomAD
CA4183702
rs149281501
368 R>W No ClinGen
ESP
ExAC
gnomAD
rs1401302083
CA366958065
CA366958064
369 N>K No ClinGen
gnomAD
rs773371427
CA4183700
373 C>W No ClinGen
ExAC
gnomAD
CA366958021
rs1376467091
376 R>* No ClinGen
TOPMed
gnomAD
CA155123544
rs761110991
376 R>Q No ClinGen
TOPMed
CA155123527
rs376408493
382 P>L No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 383 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4183697
rs774602757
383 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA4183694
rs138465359
385 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366957957
rs1583839242
386 N>S No ClinGen
Ensembl
CA155123513
rs768924803
COSM1200396
387 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA366957949
rs1215416947
387 R>H No ClinGen
gnomAD
rs770795151
CA4183693
389 G>R No ClinGen
ExAC
gnomAD
rs1316759729
CA366957925
391 D>Y No ClinGen
gnomAD
CA155123505
rs879534504
392 V>F No ClinGen
Ensembl
CA366957912
rs1251576225
393 R>K No ClinGen
TOPMed
CA366957911
rs1251576225
393 R>T No ClinGen
TOPMed
CA4183692
rs187980810
394 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1378189271
CA366957907
394 S>P No ClinGen
gnomAD
rs1296475750
CA366957869
399 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA155118216
rs368980248
401 W>S No ClinGen
ESP
TOPMed
CA366957837
rs1250731649
402 V>A No ClinGen
gnomAD
CA4183647
rs559237991
402 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA366957840
rs559237991
402 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1232633977
CA366957826
404 P>A No ClinGen
TOPMed
CA366957821
rs1484219582
405 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1562618642
CA572926281
406 C>* No ClinGen
Ensembl
rs1322455732
CA366957814
406 C>G No ClinGen
TOPMed
CA366957813
rs1322455732
406 C>R No ClinGen
TOPMed
rs1562618639
CA366957812
406 C>Y No ClinGen
Ensembl
rs768050489
CA4183641
407 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs768050489
CA4183640
407 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1562618618
CA366957800
408 G>E No ClinGen
Ensembl
rs1231104619
CA366957802
408 G>R No ClinGen
gnomAD
rs1311697391
CA366957785
410 C>Y No ClinGen
gnomAD
CA366957778
rs1465264468
411 N>S No ClinGen
gnomAD
rs879754457
CA366957754
414 Y>F No ClinGen
TOPMed
gnomAD
rs879754457
CA155118183
414 Y>S No ClinGen
TOPMed
gnomAD
CA155118144
rs995765441
416 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs368150780
CA155118150
416 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA366957734
rs1331157404
417 K>N No ClinGen
gnomAD
rs748848014
CA4183639
418 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs766188645
CA4183638
418 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs769315810
CA4183635
419 D>E No ClinGen
ExAC
rs1256846966
CA366957726
419 D>N No ClinGen
gnomAD
rs1301630062
CA366957720
COSM1088465
420 G>S Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs199585313
CA4183633
421 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4183632
rs757696242
421 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA366957709
rs1379426196
422 C>R No ClinGen
gnomAD
rs1299767891
CA366957675
427 L>F No ClinGen
TOPMed
CA4183630
rs758446964
429 H>N No ClinGen
ExAC
gnomAD
CA4183629
rs758446964
429 H>Y No ClinGen
ExAC
gnomAD
CA366957627
rs1286904628
434 Y>C No ClinGen
gnomAD
CA155118031
rs891183747
434 Y>H No ClinGen
Ensembl
rs765401220
CA4183626
435 G>S No ClinGen
ExAC
gnomAD
rs1230153504
CA366957605
437 D>E No ClinGen
TOPMed
rs750177138
CA4183624
437 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs767205857
CA366957604
438 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs767205857
CA4183623
438 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs1396026072
CA366957587
440 K>R No ClinGen
gnomAD
TCGA novel 441 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1255612164
CA366957577
441 E>D No ClinGen
gnomAD
rs1359449685
CA366957551
445 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA366957525
rs1198433095
447 Q>* No ClinGen
gnomAD
rs16891988
CA4183578
COSM183085
447 Q>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA366957511
rs1457742607
449 E>Q No ClinGen
gnomAD
CA4183574
rs748642695
451 V>A No ClinGen
ExAC
CA4183575
rs141309943
451 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749434728
CA4183571
452 E>D No ClinGen
ExAC
gnomAD
CA4183572
rs569049138
452 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs569049138
CA4183573
452 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA366957492
rs1562617547
452 E>V No ClinGen
Ensembl
rs148258753
CA4183569
454 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1562617522
CA917961302
455 N>S No ClinGen
Ensembl

No associated diseases with Q96GN5

No regional properties for Q96GN5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96GN5

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Associates with chromatin
  • Translocates from cytoplasm to nucleus under dexamethasone induction
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name Definition
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MELATRYQIP KEVADIFNAP SDDEEFVGFR DDVPMETLSS EESCDSFDSL ESGKQQDVRF
70 80 90 100 110 120
HSKYFTEELR RIFIEDTDSE TEDFAGFTQS DLNGKTNPEV MVVESDLSDD GKASLVSEEE
130 140 150 160 170 180
EDEEEDKATP RRSRSRRSSI GLRVAFQFPT KKLANKPDKN SSSEQLFSSA RLQNEKKTIL
190 200 210 220 230 240
ERKKDCRQVI QREDSTSESE DDSRDESQES SDALLKRTMN IKENKAMLAQ LLAELNSMPD
250 260 270 280 290 300
FFPVRTPTSA SRKKTVRRAF SEGQITRRMN PTRSARPPEK FALENFTVSA AKFAEEFYSF
310 320 330 340 350 360
RRRKTIGGKC REYRRRHRIS SFRPVEDITE EDLENVAITV RDKIYDKVLG NTCHQCRQKT
370 380 390 400 410 420
IDTKTVCRNQ GCCGVRGQFC GPCLRNRYGE DVRSALLDPD WVCPPCRGIC NCSYCRKRDG
430 440 450
RCATGILIHL AKFYGYDNVK EYLESLQKEL VEDN