Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q96N95

Entry ID Method Resolution Chain Position Source
AF-Q96N95-F1 Predicted AlphaFoldDB

276 variants for Q96N95

Variant ID(s) Position Change Description Diseaes Association Provenance
CA402283664
rs1316732961
2 S>C No ClinGen
TOPMed
CA8937670
rs762134932
3 A>S No ClinGen
ExAC
CA402283656
rs1198935239
4 K>E No ClinGen
TOPMed
rs1258100157
CA402283646
5 L>S No ClinGen
gnomAD
CA402283641
rs1295274774
6 G>R No ClinGen
TOPMed
gnomAD
CA8937667
rs768643264
8 S>* No ClinGen
ExAC
gnomAD
CA8937668
rs774661109
8 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA298622077
rs866491642
10 S>L No ClinGen
Ensembl
rs1278469567
CA402283611
11 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs912340816
CA298622076
11 L>P No ClinGen
TOPMed
CA402283612
rs1278469567
11 L>V No ClinGen
gnomAD
CA8937664
rs770875788
14 Q>E No ClinGen
ExAC
gnomAD
CA298622075
rs140642117
15 T>I No ClinGen
ESP
rs1272810365
CA402283580
16 S>* No ClinGen
gnomAD
rs1382049397
CA402283576
17 E>G No ClinGen
gnomAD
rs370565271
CA8937663
17 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8937661
rs758121706
18 E>D No ClinGen
ExAC
gnomAD
CA8937662
rs777539789
18 E>Q No ClinGen
ExAC
gnomAD
rs1309504554
CA402283545
21 G>V No ClinGen
gnomAD
TCGA novel 23 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs934883170
CA298622074
26 K>E No ClinGen
TOPMed
gnomAD
CA402283504
rs1168106373
27 M>I No ClinGen
gnomAD
rs924773183
CA298622073
27 M>R No ClinGen
TOPMed
CA402283492
rs1406870350
29 E>G No ClinGen
gnomAD
rs778576252
CA402283487
30 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs778576252
CA8937659
30 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1187062603
CA402283478
31 E>* No ClinGen
TOPMed
gnomAD
CA402283463
rs1255432859
33 T>A No ClinGen
gnomAD
CA402283459
rs1179005981
33 T>I No ClinGen
gnomAD
CA402283447
rs1481107043
35 D>G No ClinGen
TOPMed
gnomAD
CA402283449
rs1368036752
35 D>N No ClinGen
TOPMed
rs1276202082
CA402283442
36 P>T No ClinGen
TOPMed
rs753367083
CA8937657
37 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA402283424
rs1598705887
38 S>C No ClinGen
Ensembl
rs1218742110
CA402283422
39 S>G No ClinGen
TOPMed
rs1373412478
CA402283416
39 S>R No ClinGen
gnomAD
CA8937656
rs766854143
40 L>I No ClinGen
ExAC
gnomAD
rs766854143
CA402283415
40 L>V No ClinGen
ExAC
gnomAD
rs1259373273
CA402283407
41 H>P No ClinGen
TOPMed
rs761240670
CA8937655
42 W>* No ClinGen
ExAC
gnomAD
CA402283397
rs1220282310
42 W>* No ClinGen
TOPMed
rs1233170136
CA402283393
43 S>G No ClinGen
gnomAD
rs750898040
CA8937654
43 S>I No ClinGen
ExAC
gnomAD
CA402283388
rs1266466534
43 S>R No ClinGen
TOPMed
rs376934742
CA8937652
47 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8937649
rs753830014
51 F>* No ClinGen
ExAC
CA8937646
rs143642761
52 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143642761
CA8937647
52 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375524014
CA8937644
52 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs375524014
CA8937645
52 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8937642
rs746953539
53 Q>H No ClinGen
ExAC
CA402283325
rs1195951921
53 Q>K No ClinGen
TOPMed
rs773074174
CA8937641
54 Q>H No ClinGen
ExAC
rs1169638705
CA402283297
57 Q>K No ClinGen
gnomAD
CA8937638
rs137966135
59 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1164162234
CA402283266
61 Q>* No ClinGen
gnomAD
rs778481234
CA402283264
61 Q>L No ClinGen
ExAC
gnomAD
rs778481234
CA8937637
61 Q>R No ClinGen
ExAC
gnomAD
rs754646015
CA8937636
64 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs748816802
CA8937635
65 G>E No ClinGen
ExAC
gnomAD
CA298622072
rs760413873
68 E>K No ClinGen
gnomAD
CA8937633
rs755631539
70 L>V No ClinGen
ExAC
gnomAD
rs372161434
CA8937632
71 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA402283197
rs141128029
72 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141128029
CA8937630
72 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150745506
CA8937631
72 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA298622070
CA298622071
rs148190809
74 W>R No ClinGen
ESP
CA402283177
rs1239203737
75 E>D No ClinGen
gnomAD
rs751926567
CA8937629
75 E>K No ClinGen
ExAC
CA8937628
rs764277597
76 L>F No ClinGen
ExAC
gnomAD
rs144629150
CA402283159
78 H>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
rs144629150
CA8937627
78 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA402283161
COSM563328
rs1304416750
78 H>Y lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA402283154
rs1376334307
79 L>F No ClinGen
TOPMed
TCGA novel 82 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775507601
CA8937626
83 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs775507601
CA298622069
83 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1271410957
CA402283129
83 P>T No ClinGen
Ensembl
CA8937623
rs773162152
84 E>* No ClinGen
ExAC
gnomAD
CA8937624
rs773162152
84 E>K No ClinGen
ExAC
gnomAD
CA8937620
rs751718795
87 T>A No ClinGen
ExAC
gnomAD
rs1454379423
CA402283086
89 E>D No ClinGen
gnomAD
CA402283047
rs1363262013
95 L>R No ClinGen
gnomAD
CA402283018
rs1214941243
100 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8937619
rs377112324
100 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768269256
CA8937618
103 I>V No ClinGen
ExAC
gnomAD
CA8937617
rs748987673
104 L>F No ClinGen
ExAC
TOPMed
CA298622066
rs761854981
106 K>R No ClinGen
Ensembl
rs1049434483
CA298622065
107 E>D No ClinGen
Ensembl
rs779527153
CA8937616
109 Q>H No ClinGen
ExAC
gnomAD
CA402282954
rs1264491001
110 A>V No ClinGen
gnomAD
rs1219426913
CA402282945
111 W>C No ClinGen
TOPMed
rs1225630792
CA402282936
113 Q>K No ClinGen
gnomAD
TCGA novel 113 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1373478926
CA402282932
113 Q>R No ClinGen
gnomAD
CA402282927
rs1567956573
114 K>E No ClinGen
Ensembl
CA402282920
rs1485275614
115 H>N No ClinGen
gnomAD
rs745342325
CA402282913
115 H>Q No ClinGen
ExAC
gnomAD
CA402282916
rs1258380645
115 H>R No ClinGen
TOPMed
gnomAD
CA402282887
rs1302226746
119 N>I No ClinGen
TOPMed
gnomAD
rs1302226746
CA402282886
119 N>S No ClinGen
TOPMed
gnomAD
rs527836273
CA8937612
121 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA298622064
rs753885904
122 E>V No ClinGen
gnomAD
rs574464698
CA298622063
125 T>A No ClinGen
Ensembl
rs751931646
CA8937610
126 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA402282844
rs1567956519
126 M>V No ClinGen
Ensembl
CA298622062
rs763792375
128 E>K No ClinGen
gnomAD
rs764520319
CA8937609
129 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1296465161
CA402282808
131 E>G No ClinGen
gnomAD
rs1446695707
CA402282792
133 E>D No ClinGen
TOPMed
CA8937608
rs373546518
133 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8937607
rs113297988
134 L>P No ClinGen
ExAC
gnomAD
CA402282766
rs1452967852
137 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 142 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402282720
rs1287538142
142 F>V No ClinGen
TOPMed
TCGA novel 142 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402282714
rs1256138741
143 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 143 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8937585
rs200861128
144 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200723166
CA8937584
144 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763909301
CA8937583
145 R>G No ClinGen
ExAC
gnomAD
TCGA novel 146 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775409603
CA8937581
147 D>E No ClinGen
ExAC
gnomAD
CA8937582
rs762857777
147 D>Y No ClinGen
ExAC
gnomAD
rs779377576
CA298622040
148 M>V No ClinGen
Ensembl
CA8937580
rs769635315
149 I>M No ClinGen
ExAC
gnomAD
rs1274980941
CA402282673
149 I>T No ClinGen
TOPMed
gnomAD
CA8937579
rs759262254
152 K>N No ClinGen
ExAC
gnomAD
CA298622039
rs939661760
154 A>G No ClinGen
Ensembl
CA402282639
rs1598704876
155 P>A No ClinGen
Ensembl
CA402282616
rs1337817376
158 I>T No ClinGen
gnomAD
rs1031088285
CA298622038
159 T>I No ClinGen
TOPMed
gnomAD
rs772446501
CA8937574
162 L>F No ClinGen
ExAC
gnomAD
rs1406285747
CA402282586
163 P>A No ClinGen
TOPMed
CA402282579
rs1567956201
164 S>G No ClinGen
Ensembl
CA8937573
rs748615438
164 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA8937570
rs566770838
167 L>H No ClinGen
1000Genomes
ExAC
gnomAD
CA298622036
rs114717482
168 M>I No ClinGen
1000Genomes
gnomAD
CA298622037
rs999178831
168 M>R No ClinGen
TOPMed
CA298622035
rs866296045
169 P>S No ClinGen
TOPMed
rs756260955
CA402282540
170 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs756260955
CA8937568
170 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs560556722
CA8937567
172 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1468008298
CA402282515
173 Q>H No ClinGen
gnomAD
rs1043444688
CA298622034
173 Q>R No ClinGen
TOPMed
CA402282505
rs1271183142
175 Q>* No ClinGen
gnomAD
rs764148234
CA8937566
176 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs375802840
CA298622033
177 A>T No ClinGen
ESP
TOPMed
gnomAD
CA402282480
rs1239783886
179 W>* No ClinGen
gnomAD
CA402282481
rs1238545537
179 W>G No ClinGen
gnomAD
CA8937564
rs202174493
181 L>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8937563
rs368248319
182 Q>R No ClinGen
ESP
ExAC
gnomAD
rs759356031
CA8937562
184 L>* No ClinGen
ExAC
gnomAD
rs371734040
CA298622030
184 L>V No ClinGen
Ensembl
CA8937561
rs138495232
188 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1598700568
CA402282234
190 D>E No ClinGen
Ensembl
rs1598700579
CA402282240
190 D>N No ClinGen
Ensembl
TCGA novel 190 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371305060
CA402282226
191 I>M No ClinGen
TOPMed
rs371299934
CA8937528
201 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754951042
CA8937526
206 L>S No ClinGen
ExAC
gnomAD
rs1320034401
CA402282115
208 I>T No ClinGen
TOPMed
CA8937525
rs9963473
VAR_057418
211 H>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs775808351
CA402282094
211 H>Q No ClinGen
ExAC
gnomAD
CA298621671
rs9963473
211 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 211 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8937523
rs140666989
212 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs543145168
CA8937522
213 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1215406107
CA402282055
217 I>T No ClinGen
TOPMed
CA8937520
rs761366844
219 H>R No ClinGen
ExAC
gnomAD
rs751058626
CA8937519
220 M>I No ClinGen
ExAC
gnomAD
CA402282034
rs1207133270
220 M>R No ClinGen
gnomAD
rs1258696060
CA402282024
221 N>K No ClinGen
gnomAD
CA402282027
rs1245939098
221 N>S No ClinGen
TOPMed
CA8937518
rs764654556
222 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1217286825
CA402282003
225 S>G No ClinGen
TOPMed
gnomAD
rs1413629001
CA402281968
230 G>R No ClinGen
TOPMed
gnomAD
rs1376593452
CA402281949
233 E>K No ClinGen
gnomAD
rs776005598
CA8937516
234 Q>P No ClinGen
ExAC
gnomAD
rs770073755
CA8937515
235 D>H No ClinGen
ExAC
rs759901946
CA8937514
236 G>R No ClinGen
ExAC
gnomAD
TCGA novel 236 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs574043787
CA8937511
238 F>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200256118
CA8937510
239 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs200256118
CA402281904
239 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA402281900
rs1165830566
240 K>E No ClinGen
gnomAD
rs772223147
CA8937509
241 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 243 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402281866
rs1388328724
244 N>K No ClinGen
TOPMed
CA298621670
rs780003016
245 P>A No ClinGen
ExAC
gnomAD
rs780003016
CA8937507
245 P>T No ClinGen
ExAC
gnomAD
CA402281858
rs1436229369
246 S>Y No ClinGen
TOPMed
rs1377551062
CA402281845
248 K>E No ClinGen
TOPMed
rs200991704
RCV000971074
250 Q>missing No ClinVar
dbSNP
rs755905627
CA8937506
250 Q>K No ClinGen
ExAC
CA298621669
rs1029091625
250 Q>R No ClinGen
TOPMed
rs1567953938
CA402281804
253 C>S No ClinGen
Ensembl
rs374004274
CA8937504
255 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8937503
rs557349808
256 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA8937502
rs756901477
256 C>Y No ClinGen
ExAC
gnomAD
rs751142511
CA8937501
258 K>N No ClinGen
ExAC
gnomAD
CA8937500
rs145740578
261 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1567953899
CA402281746
261 S>I No ClinGen
Ensembl
rs1567953899
CA402281747
261 S>T No ClinGen
Ensembl
rs905416291
CA298621668
264 S>* No ClinGen
Ensembl
rs1319329589
CA402281727
264 S>T No ClinGen
gnomAD
rs1223942329
CA402281719
265 A>D No ClinGen
gnomAD
CA8937498
rs753172094
271 R>I No ClinGen
ExAC
gnomAD
CA402281678
rs753172094
271 R>K No ClinGen
ExAC
gnomAD
CA8937497
rs765742311
271 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1395200863
CA402281667
273 H>D No ClinGen
gnomAD
rs1209055115
CA402281646
276 K>E No ClinGen
TOPMed
CA8937494
rs777040842
276 K>R No ClinGen
ExAC
gnomAD
rs374149724
CA298621667
278 P>H No ClinGen
ESP
ExAC
gnomAD
CA8937493
rs374149724
278 P>L No ClinGen
ESP
ExAC
gnomAD
rs773518822
CA8937491
279 Y>* No ClinGen
ExAC
rs760992408
CA8937492
279 Y>C No ClinGen
ExAC
gnomAD
CA8937486
rs777224773
281 C>* No ClinGen
ExAC
gnomAD
CA8937490
rs149796653
281 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8937489
rs200984340
281 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA402281609
rs1292466006
282 D>N No ClinGen
gnomAD
CA8937487
rs769759761
283 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745720795
CA8937485
285 A>S No ClinGen
ExAC
gnomAD
rs1256219929
CA402281580
286 K>E No ClinGen
TOPMed
CA8937484
rs780973619
288 F>Y No ClinGen
ExAC
gnomAD
CA8937483
rs369731655
290 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA402281551
rs369731655
290 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM988147
CA8937482
rs745879283
290 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs116404576
CA402281542
291 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757883580
CA402281540
292 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8937480
rs757883580
292 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375219933
CA8937479
295 I>L No ClinGen
ESP
ExAC
gnomAD
rs112874582
CA8937478
296 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8937476
rs770977648
298 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs766873525
CA8937475
298 R>Q No ClinGen
ExAC
gnomAD
CA8937474
rs761080609
299 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs949401279
COSM988146
CA298621666
299 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA402281483
rs566238013
301 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA8937472
rs115597469
302 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8937471
rs761858803
306 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA402281448
rs761858803
306 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1431984276
CA402281441
307 Y>* No ClinGen
TOPMed
gnomAD
CA8937470
rs774488647
307 Y>C No ClinGen
ExAC
gnomAD
CA402281431
rs1351265463
309 C>R No ClinGen
TOPMed
TCGA novel 309 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs535584134
CA8937468
310 H>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8937469
rs535584134
310 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA298621665
rs867241216
311 D>E No ClinGen
Ensembl
CA402281410
rs192743555
312 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8937467
rs192743555
312 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8937466
rs139312528
312 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA298621664
rs139312528
312 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA402281395
rs1179320078
314 K>I No ClinGen
TOPMed
TCGA novel 315 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402281392
rs1212518459
315 A>T No ClinGen
gnomAD
rs867840508
CA298621663
315 A>V No ClinGen
Ensembl
CA8937464
rs116074936
316 F>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781036174
CA8937462
321 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA8937461
rs778490037
321 N>T No ClinGen
ExAC
gnomAD
CA8937458
rs766963640
322 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs766963640
CA8937459
322 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs754397738
CA8937460
322 L>V No ClinGen
ExAC
gnomAD
rs1416907581
CA402281339
323 F>V No ClinGen
gnomAD
rs1335400492
CA402281329
324 R>I No ClinGen
TOPMed
gnomAD
TCGA novel 324 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1464845884
CA402281301
328 R>K No ClinGen
gnomAD
rs1375299078
CA402281296
329 H>N No ClinGen
gnomAD
CA402281290
rs1567953637
329 H>Q No ClinGen
Ensembl
CA402281285
rs1171652579
330 I>N No ClinGen
gnomAD
rs1003186692
CA298621661
330 I>V No ClinGen
Ensembl
rs1567953617
CA402281279
331 R>K No ClinGen
Ensembl
rs1260477904
CA402281270
332 K>R No ClinGen
TOPMed
gnomAD
CA402281267
rs1371462545
333 K>E No ClinGen
TOPMed
rs868211897
CA298621659
334 V>A No ClinGen
Ensembl
rs1028896564
CA298621660
334 V>I No ClinGen
TOPMed
CA8937455
rs750806462
335 P>T No ClinGen
ExAC
gnomAD

No associated diseases with Q96N95

1 regional properties for Q96N95

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 16 - 165 IPR005225

Functions

Description
EC Number
Subcellular Localization
  • [Isoform 1]: Nucleus
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity Binding to an identical protein to form a homodimer.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

2 GO annotations of biological process

Name Definition
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSAKLGKSSS LLTQTSEECN GILTEKMEEE EQTCDPDSSL HWSSSYSPET FRQQFRQFGY
70 80 90 100 110 120
QDSPGPHEAL SRLWELCHLW LRPEVHTKEQ ILELLVLEQF LAILPKELQA WVQKHHPENG
130 140 150 160 170 180
EETVTMLEDV ERELDGPKQI FFGRRKDMIA EKLAPSEITE ELPSSQLMPV KKQLQGASWE
190 200 210 220 230 240
LQSLRPHDED IKTTNVKSAS RQKTSLGIEL HCNVSNILHM NGSQSSTYRG TYEQDGRFEK
250 260 270 280 290 300
RQGNPSWKKQ QKCDECGKIF SQSSALILHQ RIHSGKKPYA CDECAKAFSR SAILIQHRRT
310 320 330
HTGEKPYKCH DCGKAFSQSS NLFRHRKRHI RKKVP