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 Q96IT1

Entry ID Method Resolution Chain Position Source
AF-Q96IT1-F1 Predicted AlphaFoldDB

487 variants for Q96IT1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs139310202
CA1494715
6 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139310202
CA1494716
6 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140046232
CA40719258
8 R>* No ClinGen
ESP
TOPMed
gnomAD
rs758982919
CA1494714
8 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1494713
rs774280284
12 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345551536
rs774280284
12 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA40719242
rs753863564
16 E>K No ClinGen
Ensembl
CA1494710
rs777584581
17 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs768860810
CA1494709
18 P>L No ClinGen
ExAC
gnomAD
rs1324800178
CA345551488
19 R>T No ClinGen
gnomAD
rs1293086998
CA345551470
21 M>I No ClinGen
TOPMed
gnomAD
CA1494708
rs747285025
21 M>V No ClinGen
ExAC
gnomAD
rs780266289
CA1494707
22 R>G No ClinGen
ExAC
gnomAD
CA345551460
rs1438155979
23 S>R No ClinGen
gnomAD
CA345551444
rs1303981211
25 P>L No ClinGen
TOPMed
gnomAD
rs758434310
CA1494706
25 P>S No ClinGen
ExAC
gnomAD
COSM136228
CA345551440
rs1558159875
26 G>E skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1352904726
CA345551432
27 E>G No ClinGen
gnomAD
TCGA novel 27 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345551425
rs1572098161
28 N>T No ClinGen
Ensembl
CA1494704
rs779430222
29 P>L No ClinGen
ExAC
gnomAD
rs1234930774
CA345551414
30 S>C No ClinGen
TOPMed
gnomAD
CA345551415
rs1234930774
30 S>G No ClinGen
TOPMed
gnomAD
rs143093142
CA1494702
30 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1169483192
CA345551407
31 P>L No ClinGen
TOPMed
gnomAD
CA1494701
rs377660706
31 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345551401
rs1282363338
32 Q>P No ClinGen
TOPMed
rs200347844
CA1494698
33 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1494699
rs752341821
33 G>R No ClinGen
ExAC
gnomAD
TCGA novel 34 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1230692458
CA345551380
35 L>P No ClinGen
gnomAD
rs1193223881
CA345551376
36 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1457960161
CA345551364
38 P>A No ClinGen
gnomAD
rs770869852
CA1494695
39 E>D No ClinGen
ExAC
gnomAD
CA345551338
rs377235640
42 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377235640
CA1494690
42 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1494692
rs370734357
42 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345551334
rs1447553209
43 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs745941752
COSM533884
CA1494688
46 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1324209169
CA345551314
46 R>H No ClinGen
TOPMed
gnomAD
CA345551312
rs1324209169
46 R>L No ClinGen
TOPMed
gnomAD
CA1494687
rs778904374
47 R>C No ClinGen
ExAC
gnomAD
CA1494686
rs757781873
47 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1405653429
CA345551301
CA345551302
48 F>L No ClinGen
gnomAD
rs375177606
CA1494685
48 F>Y No ClinGen
ESP
ExAC
gnomAD
CA1494684
rs200734529
49 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1494683
rs756483173
49 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs753145019
CA1494682
50 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA345551270
rs754624563
53 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs561497013
CA1494681
53 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA1494680
COSM906980
rs754624563
53 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs975307339
CA40719123
54 A>S No ClinGen
Ensembl
rs542775501
CA40719121
54 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs949678705
CA40719116
55 G>C No ClinGen
TOPMed
gnomAD
rs193258166
CA345551253
57 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1494674
rs193258166
57 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765186900
CA1494675
57 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 58 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345551251
rs1326018871
58 E>K No ClinGen
gnomAD
CA345551240
rs1429819863
59 A>G No ClinGen
TOPMed
gnomAD
rs772310743
CA345551242
59 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs772310743
CA1494672
59 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1429819863
CA345551241
59 A>V No ClinGen
TOPMed
gnomAD
CA1494671
rs746147716
61 Q>L No ClinGen
ExAC
gnomAD
CA345551225
rs1420226023
62 R>C No ClinGen
gnomAD
rs910534368
CA40719090
62 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 64 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1052687443
CA40719085
64 W>L No ClinGen
TOPMed
gnomAD
rs1052687443
CA345551212
64 W>S No ClinGen
TOPMed
gnomAD
CA1494670
rs375121652
65 D>Y No ClinGen
ESP
ExAC
gnomAD
rs539020308
CA40719079
CA1494668
68 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345551182
rs756732762
69 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA1494666
rs756732762
69 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 70 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146923642
CA1494665
72 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781476350
CA345551154
74 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781476350
CA1494664
COSM3930706
74 E>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA345551145
rs1312816081
75 R>T No ClinGen
gnomAD
CA40719061
rs556025977
76 H>Y No ClinGen
1000Genomes
TCGA novel 77 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345551126
rs1342358073
78 K>E No ClinGen
TOPMed
CA40719053
rs878945223
80 Q>E No ClinGen
Ensembl
rs1558159650
CA345551083
84 L>M No ClinGen
Ensembl
rs567147349
CA40719047
89 Q>R No ClinGen
1000Genomes
rs1374720492
CA345551039
91 L>M No ClinGen
TOPMed
gnomAD
CA40719045
rs533663170
96 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1494656
rs776485451
96 R>Q No ClinGen
ExAC
gnomAD
CA1494657
rs533663170
96 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA40719042
rs1032497958
99 Q>E No ClinGen
Ensembl
rs763856288
CA1494655
100 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1194783962
CA345550970
102 V>L No ClinGen
gnomAD
rs1485651429
CA345550961
103 R>Q No ClinGen
gnomAD
rs111812739
CA40719037
105 Q>R No ClinGen
Ensembl
CA40719031
rs868817407
107 P>L No ClinGen
Ensembl
rs372064707
CA40719030
108 E>Q No ClinGen
ESP
TOPMed
rs774371241
CA1494653
109 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 110 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1494651
rs749333180
110 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345550881
rs1309424331
115 A>V No ClinGen
gnomAD
CA1494648
rs188968543
116 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1494647
rs184024831
116 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1572097629
CA345550871
117 V>G No ClinGen
Ensembl
rs1397697428
CA345550870
118 E>K No ClinGen
gnomAD
rs367771669
CA1494640
122 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345550842
rs778466446
122 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1558159563
CA345550826
124 P>L No ClinGen
Ensembl
rs1353826666
CA345550822
125 G>E No ClinGen
TOPMed
rs764098358
CA1494638
125 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs764098358
CA345550824
125 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs373909909
CA40718690
131 L>F No ClinGen
ExAC
gnomAD
rs373909909
CA1494616
131 L>I No ClinGen
ExAC
gnomAD
rs1294615407
CA345550748
134 C>R No ClinGen
TOPMed
CA345550746
rs1422054501
134 C>S No ClinGen
TOPMed
gnomAD
CA345550745
rs1422054501
134 C>Y No ClinGen
TOPMed
gnomAD
rs1181070341
CA345550719
138 V>M No ClinGen
Ensembl
rs144996628
CA1494610
143 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775823120
CA1494609
145 S>N No ClinGen
ExAC
gnomAD
CA1494608
rs766724148
146 P>L No ClinGen
ExAC
gnomAD
rs1319063161
CA345550662
146 P>S No ClinGen
TOPMed
rs1489196320
CA345550642
149 Q>R No ClinGen
gnomAD
CA1494607
rs746236722
151 Q>P No ClinGen
ExAC
gnomAD
CA1494606
rs773953553
152 E>K No ClinGen
ExAC
gnomAD
CA345550610
rs1572096959
TCGA novel
153 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
COSM1690075
rs140066392
CA1494605
155 P>L skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345550601
rs1233502690
155 P>S No ClinGen
gnomAD
TCGA novel 155 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1453382433
CA345550580
158 P>L No ClinGen
TOPMed
rs755991204
CA1494602
159 H>Y No ClinGen
ExAC
gnomAD
rs74634615
CA345550563
161 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs74634615
CA1494600
161 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs74634615
CA40718587
161 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1427343840
CA345550551
163 A>T No ClinGen
gnomAD
CA1494599
rs754776180
163 A>V No ClinGen
ExAC
gnomAD
CA40718576
rs146066456
165 N>K No ClinGen
ESP
gnomAD
rs1424015328
CA345550532
165 N>S No ClinGen
TOPMed
CA345550517
rs1191175953
167 D>G No ClinGen
TOPMed
gnomAD
rs1263861066
CA345550497
170 P>S No ClinGen
gnomAD
rs753860949
CA1494595
171 I>V No ClinGen
ExAC
gnomAD
rs981274232
CA40718569
172 T>A No ClinGen
gnomAD
TCGA novel 172 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1405438143
CA345550484
172 T>N No ClinGen
TOPMed
rs1157648921
CA345550476
174 A>T No ClinGen
TOPMed
CA345550458
rs1405888761
176 C>Y No ClinGen
gnomAD
CA1494594
rs770310419
177 L>P No ClinGen
ExAC
gnomAD
TCGA novel 178 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760687750
CA1494593
183 P>L No ClinGen
ExAC
gnomAD
CA1494592
rs775913287
184 P>L No ClinGen
ExAC
gnomAD
CA1494590
rs759846270
185 S>G No ClinGen
ExAC
gnomAD
rs1409630034
CA345550385
188 S>G No ClinGen
gnomAD
CA1494588
rs770460532
189 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA40718549
rs934046048
191 P>A No ClinGen
TOPMed
gnomAD
rs1318040042
CA345550329
195 D>H No ClinGen
TOPMed
CA1494561
rs768707196
196 A>G No ClinGen
ExAC
gnomAD
rs1324940163
CA345550314
197 F>Y No ClinGen
TOPMed
CA1494560
rs201186610
199 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1351684433
CA345550276
202 E>D No ClinGen
gnomAD
rs1572090929
CA345550273
203 N>D No ClinGen
Ensembl
CA1494559
rs779872767
204 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs577506893
CA1494557
205 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1494558
rs148779406
205 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1494556
rs778003586
206 D>G No ClinGen
ExAC
gnomAD
CA1494555
rs756378533
208 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA345550241
rs1572090898
COSM464284
208 Q>R kidney [Cosmic] No ClinGen
cosmic curated
Ensembl
CA1494554
rs752743983
213 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1377966744
CA345550201
214 Q>H No ClinGen
gnomAD
CA1494552
rs755062270
216 P>S No ClinGen
ExAC
gnomAD
rs752036242
CA1494551
217 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1494549
rs763328608
217 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 217 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1494550
rs763328608
217 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA1494514
rs758923978
218 S>I No ClinGen
ExAC
gnomAD
rs779568946
CA1494512
219 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1494513
rs746300781
219 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345549816
rs1156875994
220 V>G No ClinGen
gnomAD
CA40702760
rs1052115103
222 P>L No ClinGen
Ensembl
rs757657997
CA1494510
224 K>E No ClinGen
ExAC
gnomAD
TCGA novel 224 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345549782
rs1572077834
225 D>E No ClinGen
Ensembl
CA1494508
rs763820806
226 M>I No ClinGen
ExAC
gnomAD
rs754277499
CA1494509
226 M>V No ClinGen
ExAC
gnomAD
rs1211582649
CA345549721
234 D>H No ClinGen
gnomAD
CA345549713
rs1490479464
235 W>R No ClinGen
gnomAD
rs752250787
CA1494506
238 L>I No ClinGen
ExAC
gnomAD
rs866818503
CA40702713
240 P>S No ClinGen
Ensembl
rs1391852670
CA345549667
242 Q>R No ClinGen
TOPMed
CA345549647
rs1572077791
245 F>Y No ClinGen
Ensembl
rs1237378284
CA345549641
246 Y>H No ClinGen
gnomAD
CA1494505
rs766997091
250 I>F No ClinGen
ExAC
gnomAD
rs573686715
CA1494504
251 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345549597
rs1232066630
252 G>E No ClinGen
gnomAD
CA345549590
rs1572077759
253 E>G No ClinGen
Ensembl
rs766322731
CA1494502
256 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345549566
rs1303776551
256 G>V No ClinGen
TOPMed
rs1572077740
CA345549560
257 V>G No ClinGen
Ensembl
rs201683232
CA1494500
258 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA1494499
rs373368822
259 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1035626759
CA40702646
260 P>L No ClinGen
TOPMed
rs747251382
CA1494498
261 P>S No ClinGen
ExAC
gnomAD
CA345549521
rs1191419286
262 N>S No ClinGen
gnomAD
rs939464929
CA40702061
263 D>G No ClinGen
TOPMed
CA1494478
rs575003355
263 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA345549499
rs759667017
266 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA1494476
rs759667017
266 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1494475
rs774618088
266 A>V No ClinGen
ExAC
gnomAD
CA345549488
rs1256496952
268 P>T No ClinGen
gnomAD
CA345549480
rs1340631067
269 D>G No ClinGen
TOPMed
gnomAD
CA1494473
rs749871902
269 D>H No ClinGen
ExAC
gnomAD
TCGA novel 270 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146565780
CA1494472
270 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770012039
CA1494471
272 Q>H No ClinGen
ExAC
gnomAD
CA40702042
rs914504638
273 G>V No ClinGen
TOPMed
CA345549444
rs1254605484
275 E>K No ClinGen
TOPMed
CA1494470
rs748564597
276 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA1494469
rs780682417
278 P>Q No ClinGen
ExAC
gnomAD
COSM425863
rs754694981
CA1494468
279 R>C Variant assessed as Somatic; 4.619e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754927773
CA1494467
279 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs144205351
CA1494465
280 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144205351
COSM1602064
CA1494464
280 V>I liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs966197149
CA345549407
281 P>A No ClinGen
TOPMed
gnomAD
CA40701981
rs966197149
281 P>S No ClinGen
TOPMed
gnomAD
rs1572076988
CA345549392
283 L>S No ClinGen
Ensembl
rs1169577075
CA345549381
284 Q>H No ClinGen
gnomAD
CA1494462
rs761468122
287 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs556332273
CA1494461
287 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1494460
rs767604176
288 G>D No ClinGen
ExAC
gnomAD
rs533738801
CA1494459
290 E>G No ClinGen
ExAC
gnomAD
rs149858668
CA1494458
292 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763132117
CA1494456
293 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1000933620
CA40701908
293 Q>R No ClinGen
Ensembl
rs150670300
CA1494455
295 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770379051
CA1494454
296 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs770379051
CA345549309
296 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs770379051
CA40701902
296 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA40700957
rs201717186
299 S>P No ClinGen
1000Genomes
TCGA novel 299 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345549267
rs1473314572
301 S>R No ClinGen
TOPMed
rs1010948902
CA345549225
306 Q>H No ClinGen
gnomAD
rs895283468
CA40700939
307 V>A No ClinGen
Ensembl
CA1494432
rs563974790
307 V>I No ClinGen
1000Genomes
ExAC
CA345549211
rs1189799893
309 E>Q No ClinGen
gnomAD
TCGA novel 311 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1494430
rs139561401
313 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201811036
CA1494429
313 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1494428
rs201811036
313 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA40700911
rs939596249
314 E>K No ClinGen
gnomAD
CA345549160
rs1216788167
316 L>P No ClinGen
gnomAD
CA345549162
rs1288167496
316 L>V No ClinGen
gnomAD
rs928230845
CA40700892
318 V>E No ClinGen
TOPMed
gnomAD
CA345549149
rs1311786672
318 V>L No ClinGen
gnomAD
rs1311786672
CA345549150
318 V>M No ClinGen
gnomAD
rs994697533
CA40700884
323 A>V No ClinGen
TOPMed
gnomAD
CA345549104
rs1314610855
324 C>* No ClinGen
TOPMed
rs577955613
CA1494426
325 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA1494425
rs577955613
325 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA1494427
rs757132030
325 P>T No ClinGen
ExAC
gnomAD
CA1494424
rs755936522
326 Q>H No ClinGen
ExAC
rs752585207
CA1494423
327 T>A No ClinGen
ExAC
gnomAD
CA1494422
rs766674455
COSM3771680
327 T>M pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1558438198
CA345549082
329 V>M No ClinGen
Ensembl
CA1494419
rs765302199
335 P>S No ClinGen
ExAC
gnomAD
CA1494398
rs138266774
338 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs551292960
CA1494397
340 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs551292960
CA345548814
340 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM906974
rs1386733395
CA345548810
341 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs767815336
CA1494395
341 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs767815336
CA345548808
341 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA40695159
rs1001656577
343 L>V No ClinGen
TOPMed
gnomAD
COSM77133
CA1494393
rs774017482
344 E>Q ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA40695134
rs571167960
347 L>P No ClinGen
gnomAD
CA345548743
rs571167960
347 L>Q No ClinGen
gnomAD
rs770515472
CA345548744
347 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1365347607
CA345548727
349 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1182210966
CA345548699
351 V>E No ClinGen
gnomAD
rs80003675
CA40695132
351 V>M No ClinGen
1000Genomes
CA1494391
rs762491246
352 T>S No ClinGen
ExAC
gnomAD
COSM3934615
rs1256948292
CA345548678
354 E>K oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
rs372910489
CA345548652
356 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1494388
rs372910489
356 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345548623
rs1203026725
358 S>F No ClinGen
gnomAD
rs1365353765
CA345548618
359 S>G No ClinGen
TOPMed
CA1494386
rs768458477
361 G>A No ClinGen
ExAC
gnomAD
CA345548552
rs1285828431
363 E>D No ClinGen
gnomAD
rs369493196
CA1494384
364 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757462051
CA1494383
365 S>F No ClinGen
ExAC
gnomAD
CA345548515
rs1296366974
366 Q>H No ClinGen
gnomAD
CA1494382
rs753912934
367 H>P No ClinGen
ExAC
gnomAD
rs1023488335
CA345548499
368 G>D No ClinGen
TOPMed
gnomAD
CA40695063
rs1023488335
368 G>V No ClinGen
TOPMed
gnomAD
rs1172200780
CA345548497
369 P>A No ClinGen
gnomAD
rs777888227
CA1494381
369 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs777888227
CA345548495
369 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1494379
rs61737662
370 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA40695037
rs781714383
370 Y>H No ClinGen
Ensembl
CA40695026
rs528656471
372 T>A No ClinGen
1000Genomes
rs1391349068
CA345548465
374 E>Q No ClinGen
TOPMed
rs767944381
CA1494378
375 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA1494376
rs751906836
376 G>E No ClinGen
ExAC
gnomAD
rs759899778
CA1494377
376 G>R No ClinGen
ExAC
gnomAD
rs1338022485
CA345548449
377 S>G No ClinGen
TOPMed
rs1448195772
CA345548445
377 S>N No ClinGen
gnomAD
CA1494374
rs762567651
378 P>L No ClinGen
ExAC
gnomAD
CA1494375
rs766047836
378 P>S No ClinGen
ExAC
gnomAD
TCGA novel 379 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345548426
rs769361246
379 T>I No ClinGen
ExAC
gnomAD
CA1494372
rs769361246
379 T>R No ClinGen
ExAC
gnomAD
CA345548424
rs1224689027
COSM1501855
380 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs776658470
CA1494370
382 Q>R No ClinGen
ExAC
gnomAD
CA1494369
rs564574310
383 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746790114
CA1494368
383 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1346072465
CA345548374
384 S>G No ClinGen
TOPMed
TCGA novel 385 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345548347
rs1403660720
386 P>R No ClinGen
gnomAD
rs999442194
CA40694973
387 A>T No ClinGen
TOPMed
rs767773229
CA40694972
387 A>V No ClinGen
gnomAD
rs1470092881
CA345548313
389 H>Q No ClinGen
gnomAD
CA40694966
rs1047647174
390 R>Q No ClinGen
TOPMed
gnomAD
rs373398908
CA40694971
390 R>W No ClinGen
ESP
TOPMed
CA1494364
rs369925424
391 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1494363
rs756151535
393 T>I No ClinGen
ExAC
gnomAD
rs748252152
CA1494362
394 E>K No ClinGen
ExAC
gnomAD
CA1494360
rs755501091
396 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA345548233
rs1204758140
COSM1473748
398 E>K Variant assessed as Somatic; 4.62e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA345548216
rs1572067219
399 V>G No ClinGen
Ensembl
rs766591329
CA1494358
399 V>M No ClinGen
ExAC
gnomAD
rs1271586737
CA345548197
401 T>A No ClinGen
gnomAD
rs1558435044
CA345548188
402 S>P No ClinGen
Ensembl
rs975689034
CA40694910
403 K>E No ClinGen
Ensembl
CA1494357
rs140317681
403 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765004187
CA1494355
405 S>C No ClinGen
ExAC
gnomAD
COSM3736714
rs765004187
CA1494356
405 S>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs912217262
CA40694896
405 S>T No ClinGen
gnomAD
CA345548135
rs1392957915
407 V>L No ClinGen
TOPMed
TCGA novel 407 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1455315023
CA345548066
413 K>R No ClinGen
TOPMed
CA345548057
rs1453171958
414 I>T No ClinGen
gnomAD
rs1399275200
CA345548042
416 R>H No ClinGen
gnomAD
TCGA novel 419 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775512993
CA1494350
426 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 426 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 427 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345547959
rs1183807790
429 R>G No ClinGen
gnomAD
rs1051223178
CA40694850
431 Q>L No ClinGen
TOPMed
CA1494349
rs771698932
432 E>K No ClinGen
ExAC
gnomAD
TCGA novel 432 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs918748252
CA40694836
433 K>E No ClinGen
TOPMed
rs745697566
CA1494347
433 K>R No ClinGen
ExAC
gnomAD
rs773376900
CA40694809
434 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1494345
rs770054959
434 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs773376900
CA1494346
434 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA1494341
rs747404709
436 E>D No ClinGen
ExAC
gnomAD
CA40694779
rs967075813
436 E>G No ClinGen
TOPMed
gnomAD
CA345547913
rs1396285681
436 E>K No ClinGen
gnomAD
rs575724088
CA1494340
438 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs750867338
CA1494338
439 V>L No ClinGen
ExAC
gnomAD
CA1494337
CA345547881
COSM906969
rs145725779
441 G>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
CA345547876
rs1422277169
442 E>K No ClinGen
TOPMed
gnomAD
rs757037588
CA1494336
443 L>P No ClinGen
ExAC
gnomAD
rs763457827
CA1494334
444 F>L No ClinGen
ExAC
gnomAD
CA345547850
rs1406279001
445 S>R No ClinGen
gnomAD
CA345547842
rs1171988664
446 D>E No ClinGen
TOPMed
rs1179357949
CA345547848
446 D>N No ClinGen
gnomAD
rs1470703003
CA345547836
447 S>I No ClinGen
gnomAD
rs1292522161
CA345547810
451 D>G No ClinGen
gnomAD
CA1494331
rs759308755
451 D>N No ClinGen
ExAC
gnomAD
CA1494330
rs759308755
451 D>Y No ClinGen
ExAC
gnomAD
CA345547806
rs1216194263
452 G>R No ClinGen
gnomAD
CA345547789
rs1315313292
454 L>P No ClinGen
gnomAD
rs774175734
CA1494329
455 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs761879014
CA1494327
456 S>G No ClinGen
ExAC
gnomAD
CA1494325
rs768575656
457 H>P No ClinGen
ExAC
gnomAD
rs780400418
CA1494323
458 E>D No ClinGen
ExAC
gnomAD
CA1494324
rs747132338
458 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772745140
CA1494322
459 A>T No ClinGen
ExAC
gnomAD
rs375416644
CA1494321
460 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345547744
rs1160820344
461 K>R No ClinGen
gnomAD
CA40694678
rs771372808
462 P>H No ClinGen
gnomAD
rs771372808
CA345547737
462 P>R No ClinGen
gnomAD
CA345547725
rs1294475356
COSM1234154
464 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA345547727
rs1001444124
464 R>W No ClinGen
gnomAD
rs1269737151
COSM1501858
CA345547694
469 G>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1193093635
CA345547684
470 K>R No ClinGen
gnomAD
CA1494320
rs779478905
471 S>G No ClinGen
ExAC
gnomAD
TCGA novel 475 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1216767228
CA345547634
477 H>Q No ClinGen
gnomAD
CA1494318
rs148799792
479 L>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs755533461
CA1494316
480 S>F No ClinGen
ExAC
gnomAD
rs1283821328
CA345547609
482 R>G No ClinGen
gnomAD
CA1494315
rs752303802
482 R>Q No ClinGen
ExAC
TOPMed
rs1283821328
CA345547608
482 R>W No ClinGen
gnomAD
rs1213536652
CA345547603
483 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA345547590
rs1572066956
485 H>P No ClinGen
Ensembl
rs1572066948
CA345547583
486 L>P No ClinGen
Ensembl
rs1405843411
CA345547571
488 P>S No ClinGen
TOPMed
gnomAD
CA345547559
rs1572066935
489 D>E No ClinGen
Ensembl
CA345547553
rs1572066930
490 R>S No ClinGen
Ensembl
CA1494309
rs372159025
491 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768969794
CA1494307
493 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1494305
rs201726347
494 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201726347
CA345547529
494 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369102189
CA1494302
COSM1501859
496 K>N lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM165848
CA1494303
rs147506682
496 K>R NS [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1494301
rs376788310
497 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA40694480
rs897351822
497 R>S No ClinGen
TOPMed
gnomAD
CA40694479
rs868422521
498 E>K No ClinGen
TOPMed
gnomAD
CA40694478
rs868422521
498 E>Q No ClinGen
TOPMed
gnomAD
rs199787923
CA1494300
499 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1494299
rs777271017
499 Q>H No ClinGen
ExAC
gnomAD
rs1361380147
CA345547497
500 A>T No ClinGen
TOPMed
CA345547493
rs1297040641
500 A>V No ClinGen
gnomAD
rs941622796
CA40694459
501 A>V No ClinGen
TOPMed
gnomAD
rs755834916
CA1494298
502 S>P No ClinGen
ExAC
gnomAD
rs139500830
CA1494295
503 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345547463
rs931512439
505 A>G No ClinGen
TOPMed
gnomAD
rs751457022
CA1494294
505 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA40694429
rs931512439
COSM210676
505 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs920099750
CA40694396
506 D>H No ClinGen
Ensembl
CA1494291
rs750271097
CA345547449
507 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs367671097
CA1494290
509 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1494289
rs761015768
511 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs150513765
COSM2052467
CA1494288
512 P>L lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1494285
rs141609381
516 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1494286
rs141609381
516 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141843809
CA1494284
517 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1204668736
CA345547358
522 F>L No ClinGen
gnomAD
TCGA novel 524 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773697495
CA1494282
524 C>S No ClinGen
ExAC
gnomAD
rs773697495
CA345547339
524 C>Y No ClinGen
ExAC
gnomAD
rs769321808
CA1494281
525 C>S No ClinGen
ExAC
gnomAD
rs769321808
CA345547332
525 C>Y No ClinGen
ExAC
gnomAD
rs956110622
CA40694281
526 E>G No ClinGen
TOPMed
rs1384007133
CA345547328
526 E>K No ClinGen
gnomAD
CA1494280
rs181901316
528 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 530 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780851117
CA1494279
530 A>T No ClinGen
ExAC
gnomAD
TCGA novel 533 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs552879014
CA40694228
534 H>Q No ClinGen
TOPMed
rs746569928
CA1494277
534 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 535 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1494276
rs779932930
535 D>N No ClinGen
ExAC
gnomAD
rs1572066763
CA345547258
536 H>P No ClinGen
Ensembl
rs957464637
CA40694204
536 H>Y No ClinGen
gnomAD
rs1572066760
CA345547253
537 L>V No ClinGen
Ensembl
rs758428094
CA1494275
538 A>G No ClinGen
ExAC
gnomAD
rs144745098
CA40694184
539 R>Q No ClinGen
ESP
CA1494274
rs750169761
539 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs765024513
CA1494273
540 H>P No ClinGen
ExAC
gnomAD
CA1494271
rs372166327
541 R>H Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1494272
rs372166327
541 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1494270
rs767875724
545 H>D No ClinGen
ExAC
gnomAD
rs1572066721
CA345547203
545 H>P No ClinGen
Ensembl
CA345547200
rs1297500080
545 H>Q No ClinGen
TOPMed
TCGA novel 545 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1182809376
CA345547197
546 L>V No ClinGen
gnomAD
rs1288889442
CA345547184
548 D>N No ClinGen
gnomAD
TCGA novel 550 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345547155
rs1224289443
550 A>G No ClinGen
gnomAD
rs774616123
CA40694125
551 R>G No ClinGen
ExAC
gnomAD
rs138760260
CA1494267
551 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774616123
COSM906965
CA1494268
551 R>W endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA40694109
rs866941942
552 P>S No ClinGen
Ensembl
CA40694101
rs968386490
553 F>L No ClinGen
TOPMed
gnomAD
rs1381736556
CA345547119
554 Q>R No ClinGen
Ensembl
CA345547110
rs1404813814
555 C>G No ClinGen
gnomAD
rs113336716
CA40694098
556 R>L No ClinGen
TOPMed
rs113336716
CA345547101
556 R>Q No ClinGen
TOPMed
CA1494265
rs773592885
557 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748532296
CA345547079
558 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs776241165
CA1494262
559 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA345547013
rs1159832843
563 T>M No ClinGen
gnomAD
rs779672096
CA1494259
564 Q>H No ClinGen
ExAC
gnomAD
rs1239103738
CA345546973
566 Y>C No ClinGen
TOPMed
rs757859173
CA345546958
567 D>A No ClinGen
ExAC
gnomAD
rs1451662443
CA345546965
567 D>N No ClinGen
gnomAD
rs757859173
CA1494258
567 D>V No ClinGen
ExAC
gnomAD
CA40694040
rs778747371
568 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA1494255
rs757028889
568 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA1494256
rs778747371
568 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1285731123
CA345546931
570 R>C No ClinGen
gnomAD
rs1572066572
CA345546904
572 E>A No ClinGen
Ensembl
rs942967156
CA40694018
572 E>Q No ClinGen
TOPMed
rs1219599663
CA345546895
573 R>G No ClinGen
Ensembl
CA1494253
rs767819804
573 R>H No ClinGen
ExAC
gnomAD
TCGA novel 574 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316503296
CA345546808
578 R>L No ClinGen
gnomAD
TCGA novel 579 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1384081716
CA345546800
579 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA345546774
rs1331806140
581 K>R No ClinGen
TOPMed

No associated diseases with Q96IT1

No regional properties for Q96IT1

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96IT1

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
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.

4 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
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.
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.

2 GO annotations of biological process

Name Definition
positive regulation of DNA-templated transcription Any process that activates or increases 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
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
Q96N95 ZNF396 Zinc finger protein 396 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
Q9Z1D9 Znf394 Zinc finger protein 394 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
Q91VN1 Znf24 Zinc finger protein 24 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
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 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
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
Q7TNK3 Znf24 Zinc finger protein 24 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
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
MPTALCPRVL APKESEEPRK MRSPPGENPS PQGELPSPES SRRLFRRFRY QEAAGPREAL
70 80 90 100 110 120
QRLWDLCGGW LRPERHTKEQ ILELLVLEQF LAILPREIQS WVRAQEPESG EQAVAAVEAL
130 140 150 160 170 180
EREPGRPWQW LKHCEDPVVI DDGDSPLDQE QEQLPVEPHS DLAKNQDAQP ITLAQCLGLP
190 200 210 220 230 240
SRPPSQLSGD PVLQDAFLLQ EENVRDTQQV TTLQLPPSRV SPFKDMILCF SEEDWSLLDP
250 260 270 280 290 300
AQTGFYGEFI IGEDYGVSMP PNDLAAQPDL SQGEENEPRV PELQDLQGKE VPQVSYLDSP
310 320 330 340 350 360
SLQPFQVEER RKREELQVPE FQACPQTVVP QNTYPAGGNP RSLENSLDEE VTIEIVLSSS
370 380 390 400 410 420
GDEDSQHGPY CTEELGSPTE KQRSLPASHR SSTEAGGEVQ TSKKSYVCPN CGKIFRWRVN
430 440 450 460 470 480
FIRHLRSRRE QEKPHECSVC GELFSDSEDL DGHLESHEAQ KPYRCGACGK SFRLNSHLLS
490 500 510 520 530 540
HRRIHLQPDR LQPVEKREQA ASEDADKGPK EPLENGKAKL SFQCCECGKA FQRHDHLARH
550 560 570 580
RSHFHLKDKA RPFQCRYCVK SFTQNYDLLR HERLHMKRRS KQALNSY