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 Q5JNZ3

Entry ID Method Resolution Chain Position Source
AF-Q5JNZ3-F1 Predicted AlphaFoldDB

497 variants for Q5JNZ3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA362968029
rs1187720822
2 Q>E No TOPMed
gnomAD
ClinGen
rs1306978274
CA362967962
4 V>A No gnomAD
ClinGen
CA3686313
rs777502484
4 V>F No ClinGen
ExAC
gnomAD
TCGA novel 6 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3686312
rs757997345
7 L>W No ClinGen
ExAC
gnomAD
rs1284798216
CA362967899
9 E>D No gnomAD
ClinGen
rs1332898206
CA362967865
12 G>E No ClinGen
gnomAD
CA3686311
rs752241852
13 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
TCGA novel 18 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs575308700
CA135888977
19 W>* No 1000Genomes
ClinGen
rs1450499814
CA362967768
20 T>S No gnomAD
ClinGen
rs754844913
CA3686309
21 R>C No ExAC
TOPMed
gnomAD
ClinGen
COSM3784492
rs753718649
CA362967761
21 R>H pancreas [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs753718649
CA3686308
21 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs754844913
CA135888971
21 R>S No ExAC
TOPMed
gnomAD
ClinGen
rs1281990851
CA362967755
22 Q>E No TOPMed
ClinGen
rs1562349738
CA362967750
22 Q>R No Ensembl
ClinGen
CA362967721
rs1312700797
24 T>I No gnomAD
ClinGen
CA135888968
rs753169933
27 P>L No Ensembl
ClinGen
rs1325915712
CA362967652
30 S>C No gnomAD
ClinGen
CA3686305
rs751791012
31 A>T No ExAC
gnomAD
ClinGen
CA3686286
rs764335545
31 A>V No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 32 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374958555
CA135886875
35 A>V No Ensembl
ClinGen
CA3686284
rs752866558
36 P>S No ExAC
gnomAD
ClinGen
TCGA novel 38 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362967114
rs1382462714
39 A>D No ClinGen
gnomAD
CA3686282
rs576470068
41 T>I No 1000Genomes
ExAC
gnomAD
ClinGen
CA3686281
rs557084369
43 D>V No 1000Genomes
ExAC
gnomAD
ClinGen
TCGA novel 44 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3686280
rs766898433
47 G>E No ExAC
gnomAD
ClinGen
rs779331282
CA135886857
47 G>R No Ensembl
ClinGen
rs372558075
CA3686279
48 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372558075
CA3686278
48 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3686277
rs114700024
50 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA135886815
rs1012436925
52 A>S No ClinGen
TOPMed
CA362967024
rs1377144974
53 D>G No gnomAD
ClinGen
CA362967019
rs1430546028
54 I>V No gnomAD
ClinGen
CA362967013
rs1483913153
55 T>P No TOPMed
gnomAD
ClinGen
TCGA novel 63 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141472269
CA3686251
64 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3686249
rs769243340
69 V>A No ExAC
TOPMed
gnomAD
ClinGen
rs752183880
CA135886558
69 V>I No gnomAD
ClinGen
rs1394422473
CA362966768
72 N>K No TOPMed
gnomAD
ClinGen
CA3686247
rs781039083
74 T>A No ExAC
gnomAD
ClinGen
CA362966747
rs1562335884
74 T>S No Ensembl
ClinGen
TCGA novel 75 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767504614
CA135886515
76 R>S No Ensembl
ClinGen
rs1581685510
CA362966693
79 Q>* No Ensembl
ClinGen
CA135886509
rs78571013
80 C>G No Ensembl
ClinGen
rs371656599
CA362966666
83 Y>C No ClinGen
ESP
ExAC
gnomAD
CA3686244
rs371656599
83 Y>S No ESP
ExAC
gnomAD
ClinGen
rs755196718
CA3686242
84 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA135886486
rs1034697013
86 R>K No TOPMed
ClinGen
rs780307567
CA3686240
87 H>R No ExAC
gnomAD
ClinGen
TCGA novel 88 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362966579
rs1292900193
89 Y>* No gnomAD
ClinGen
CA362966583
rs1270775772
89 Y>C No TOPMed
ClinGen
rs756226096
CA3686239
90 K>E No ExAC
TOPMed
gnomAD
ClinGen
CA362966546
rs1212285833
92 V>M No gnomAD
ClinGen
CA362966526
rs1352727006
93 M>I No ClinGen
gnomAD
CA362966532
rs1356105547
93 M>K No ClinGen
TOPMed
gnomAD
rs768082207
CA3686237
96 N>T No ClinGen
ExAC
gnomAD
rs762331387
CA3686236
97 Y>F No ExAC
TOPMed
gnomAD
ClinGen
CA362966448
rs1441689709
99 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs143285468
CA3686234
100 M>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs751918192
CA3686235
100 M>V No ClinGen
ExAC
gnomAD
rs1389105416
CA362966404
103 L>V No TOPMed
ClinGen
CA362966395
rs1424885794
104 G>R No TOPMed
ClinGen
rs1242307477
CA362966379
104 G>V No gnomAD
ClinGen
rs1315266541
CA362966354
108 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs1230332356
CA362966314
114 S>A No TOPMed
ClinGen
CA3686217
rs149098069
118 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3686216
rs757757131
118 R>Q No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel
CA362966266
rs1276618074
121 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
gnomAD
ClinGen
rs1249358684
CA362966263
122 P>T No gnomAD
ClinGen
rs1218698378
CA362966257
123 C>R No gnomAD
ClinGen
CA3686214
rs764549280
123 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA3686213
rs763161064
124 V>M No ExAC
TOPMed
gnomAD
ClinGen
CA362966242
rs1401678849
125 Q>R No ClinGen
gnomAD
rs1488792914
CA362966238
126 D>N No TOPMed
gnomAD
ClinGen
rs752357772
CA3686212
129 D>A No ExAC
gnomAD
ClinGen
CA362966209
rs1297307699
130 R>G No gnomAD
ClinGen
CA3686211
rs764854839
134 S>N No ExAC
gnomAD
ClinGen
rs1331674961
CA362966177
134 S>R No gnomAD
ClinGen
CA3686210
COSM144441
rs759114695
135 C>F haematopoietic_and_lymphoid_tissue [Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
CA3686209
rs776089157
136 S>F No ExAC
gnomAD
ClinGen
rs923857666
CA135885921
137 Y>C No TOPMed
ClinGen
CA3686189
rs773216810
140 S>* No ClinGen
ExAC
gnomAD
rs554838940
CA3686190
140 S>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3686188
rs138000372
144 M>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1323403629
CA362966092
COSM212501
145 W>C breast [Cosmic] No TOPMed
ClinGen
cosmic curated
rs544821293
CA3686187
146 P>L No 1000Genomes
ExAC
gnomAD
ClinGen
CA362966090
rs1391158781
146 P>S No gnomAD
ClinGen
CA3686186
rs774262800
147 E>K No ExAC
TOPMed
gnomAD
ClinGen
CA362966085
rs774262800
147 E>Q No ExAC
TOPMed
gnomAD
ClinGen
rs768517194
CA3686185
147 E>V No ExAC
gnomAD
ClinGen
CA3686184
rs142676085
149 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362966056
rs1310231586
151 A>T No gnomAD
ClinGen
rs776926010
CA3686183
152 S>G No ExAC
TOPMed
gnomAD
ClinGen
rs770171345
CA135884760
154 Q>P No Ensembl
ClinGen
rs771055727
CA3686181
157 I>L No ClinGen
ExAC
gnomAD
rs747044708
CA3686180
158 F>L No ExAC
gnomAD
ClinGen
rs748475186
CA362965967
163 A>D No ExAC
TOPMed
gnomAD
ClinGen
rs748475186
CA3686178
163 A>G No ExAC
TOPMed
gnomAD
ClinGen
rs778410234
CA3686179
163 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362965966
rs748475186
163 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA362965963
rs1401843703
164 Y>D No gnomAD
ClinGen
rs1410755817
CA362965919
169 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs748562958
CA3686177
173 K>E No ExAC
gnomAD
ClinGen
rs1215803479
CA362965890
173 K>N No TOPMed
ClinGen
CA135884705
rs1043862805
174 V>I No ClinGen
TOPMed
rs779272433
CA3686176
175 D>G No ExAC
TOPMed
gnomAD
ClinGen
rs886471468
CA135884700
176 S>C No ClinGen
Ensembl
CA3686174
rs145597333
177 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs200940477
CA3686175
177 R>W No ExAC
TOPMed
gnomAD
ClinGen
rs765894057
CA3686173
178 D>N No ExAC
gnomAD
ClinGen
CA3686172
rs755710340
181 V>G No ExAC
TOPMed
gnomAD
ClinGen
CA362965822
rs1368551362
181 V>I No TOPMed
ClinGen
rs1237402941
CA362965807
182 R>T No gnomAD
ClinGen
rs1375542359
CA566284456
184 V>H No ClinGen
gnomAD
CA362965787
rs1158152319
184 V>I No gnomAD
ClinGen
CA3686170
rs767536412
187 Q>K No ExAC
gnomAD
ClinGen
CA135884674
rs930735314
187 Q>P No TOPMed
gnomAD
ClinGen
CA362965751
rs930735314
187 Q>R No TOPMed
gnomAD
ClinGen
CA3686169
rs761861394
188 D>N No ExAC
ClinGen
TCGA novel 192 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362965644
rs1419559524
196 E>A No gnomAD
ClinGen
CA3686168
rs774387285
196 E>Q No ExAC
gnomAD
ClinGen
CA362965628
rs1189413235
197 T>I No gnomAD
ClinGen
CA362965625
rs1562323728
198 S>P No Ensembl
ClinGen
CA362965621
rs1395802164
198 S>Y No gnomAD
ClinGen
rs1178267248
CA362965615
199 I>V No TOPMed
gnomAD
ClinGen
rs1431712412
CA362965605
200 R>G No gnomAD
ClinGen
CA362965587
rs1486066563
201 E>G No TOPMed
gnomAD
ClinGen
rs763982330
CA3686167
201 E>K No ExAC
gnomAD
ClinGen
rs763982330
CA362965593
201 E>Q No ExAC
gnomAD
ClinGen
TCGA novel 203 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776969507
CA135884664
204 R>G No ClinGen
ExAC
gnomAD
CA3686164
rs771052912
204 R>S No ExAC
gnomAD
ClinGen
rs367714280
CA3686163
205 E>D No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs773144712
CA3686162
211 E>K No ExAC
TOPMed
ClinGen
CA3686159
rs748685657
213 V>G No ExAC
gnomAD
ClinGen
CA362965423
rs1300147355
215 C>S No TOPMed
gnomAD
ClinGen
rs758521160 218 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA362965401
rs1562323169
218 G>R No ClinGen
Ensembl
TCGA novel 218 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3686157
rs182518992
219 K>E No 1000Genomes
ExAC
gnomAD
ClinGen
CA3686155
rs189924219
220 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1562323075
CA362965380
221 Q>* No Ensembl
ClinGen
CA362965361
rs1484735211
223 V>G No TOPMed
ClinGen
CA362965351
rs1399955050
225 S>N No TOPMed
gnomAD
ClinGen
CA362965350
rs1399955050
225 S>T No TOPMed
gnomAD
ClinGen
rs553413861
CA3686154
231 N>D No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs750040086
CA3686152
232 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3686151
rs780596433
234 H>P No ExAC
gnomAD
ClinGen
CA135884528
rs962435173
234 H>Y No TOPMed
gnomAD
ClinGen
rs143114492
CA3686149
235 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362965251
rs1562322657
239 K>E No Ensembl
ClinGen
rs764108843
CA3686148
239 K>T No ExAC
gnomAD
ClinGen
rs1481996696
CA362965241
240 V>A No gnomAD
ClinGen
CA362965229
rs1288654943
242 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs762907833
CA3686147
244 Q>E No ClinGen
ExAC
gnomAD
CA3686146
rs752401792
246 L>F No ExAC
TOPMed
gnomAD
ClinGen
CA3686145
rs766673841
247 H>R No ExAC
TOPMed
gnomAD
ClinGen
CA362965198
rs1319496607
247 H>Y No gnomAD
ClinGen
rs374673459
CA3686144
248 E>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs773446019
CA3686143
250 A>S No ExAC
TOPMed
gnomAD
ClinGen
rs1401595620
CA362965162
252 C>S No gnomAD
ClinGen
CA362965129
rs1309492133
256 F>L No TOPMed
ClinGen
rs370813308
CA3686140
257 S>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs370813308
CA3686141
257 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362965125
rs370813308
257 S>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs769151142
CA3686139
259 H>R No ExAC
gnomAD
ClinGen
CA362965091
rs1562322155
262 L>V No Ensembl
ClinGen
CA3686138
rs749697633
265 H>R No ExAC
gnomAD
ClinGen
rs780300338
CA3686137
267 Q>E No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 267 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362965058
rs780300338
267 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs770152008
CA3686136
270 S>A No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 270 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362965030
rs1256203949
271 G>S No TOPMed
ClinGen
rs745508403
CA3686135
274 P>T No ExAC
gnomAD
ClinGen
CA362965001
rs1254898491
275 H>R No gnomAD
ClinGen
rs780836230
CA3686134
278 N>S No ClinGen
ExAC
gnomAD
rs1472600247
CA362964976
279 E>K No TOPMed
ClinGen
rs1405431349
CA362964951
282 K>T No TOPMed
ClinGen
rs756884037
CA3686133
283 A>T No ExAC
gnomAD
ClinGen
CA135884396
rs754567154
290 L>F No TOPMed
ClinGen
CA362964884
rs1335931553
292 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA362964866
rs777896975
294 R>L No ExAC
TOPMed
gnomAD
ClinGen
COSM3829921
rs777896975
CA3686131
294 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs751107430
CA3686132
294 R>W No ExAC
gnomAD
ClinGen
CA135884382
rs1007547246
COSM1077186
296 I>V Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No TOPMed
ClinGen
cosmic curated
NCI-TCGA
rs1340344982
CA362964843
298 T>A No TOPMed
gnomAD
ClinGen
rs1299934984
CA362964830
300 E>K No TOPMed
ClinGen
rs758386496
CA362964812
302 P>H No ExAC
gnomAD
ClinGen
rs758386496
CA3686129
302 P>L No ExAC
gnomAD
ClinGen
rs1449078062
CA362964814
302 P>S No TOPMed
gnomAD
ClinGen
rs1449078062
CA362964813
302 P>T No TOPMed
gnomAD
ClinGen
rs1462100972
CA362964800
304 N>H No gnomAD
ClinGen
rs1223381933
CA362964798
304 N>S No TOPMed
ClinGen
COSM1666328
rs377545660
CA3686126
305 C>R eye [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs1456373657
CA362964792
305 C>Y No gnomAD
ClinGen
CA135884346
rs1022376699
307 Q>* No TOPMed
ClinGen
CA362964763
rs1367790366
309 G>E No gnomAD
ClinGen
CA3686124
rs569044558
313 N>S No 1000Genomes
ExAC
gnomAD
ClinGen
CA135884343
rs1014149924
314 S>G No Ensembl
ClinGen
CA3686123
rs750626958
315 R>K No ExAC
TOPMed
gnomAD
ClinGen
CA362964715
rs1292501637
316 S>* No ClinGen
gnomAD
CA3686121
rs761951760
317 A>G No ExAC
gnomAD
ClinGen
rs374381878
CA3686122
317 A>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs892593751
CA135884336
318 L>P No TOPMed
ClinGen
CA362964694
rs1242873227
320 R>* No TOPMed
gnomAD
ClinGen
CA3686120
rs200725036
320 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs886334659
CA135884332
323 K>N No gnomAD
ClinGen
CA362964666
rs1333026901
324 T>S No gnomAD
ClinGen
CA362964664
rs1254032000
324 T>S No ClinGen
TOPMed
rs775995691
CA3686115
325 H>R No ExAC
TOPMed
gnomAD
ClinGen
rs763396858
CA3686116
325 H>Y No ExAC
gnomAD
ClinGen
rs746230001
CA3686113
327 G>E No ExAC
gnomAD
ClinGen
rs770063999
CA3686114
327 G>R No ExAC
gnomAD
ClinGen
CA362964644
rs1172153983
328 E>K No TOPMed
ClinGen
CA3686112
rs776492003
330 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs770676015
CA3686111
331 H>P No ExAC
gnomAD
ClinGen
rs1189341634
CA362964621
331 H>Y No gnomAD
ClinGen
CA3686110
rs375832545
332 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1352795818
CA362964598
334 R>T No TOPMed
ClinGen
CA135884282
rs371840973
335 D>N No ClinGen
Ensembl
rs1044739823
CA135884281
337 G>E No TOPMed
ClinGen
rs1219472350
CA362964551
341 K>E No gnomAD
ClinGen
rs757942341
CA3686108
341 K>N No ExAC
gnomAD
ClinGen
TCGA novel 341 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3686107
rs552097992
342 T>A No 1000Genomes
ExAC
gnomAD
ClinGen
CA362964540
rs1219855161
343 R>G No gnomAD
ClinGen
CA3686106
rs778853913
343 R>S No ExAC
gnomAD
ClinGen
CA362964524
COSM1271263
rs1273287191
345 R>C Variant assessed as Somatic; 0.0 impact. oesophagus haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs185510621
CA3686105
345 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140780870
CA135884249
346 L>R No ESP
TOPMed
ClinGen
CA3686104
rs753665391
348 M>I No ExAC
gnomAD
ClinGen
TCGA novel 349 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362964487
rs1342849220
350 Q>H No TOPMed
ClinGen
rs150967731
CA3686103
350 Q>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA135884238
rs1039151008
352 I>M No TOPMed
gnomAD
ClinGen
rs1358525859
CA362964472
353 H>D No TOPMed
gnomAD
ClinGen
rs1358525859
CA362964471
353 H>Y No TOPMed
gnomAD
ClinGen
rs539866239
CA3686101
355 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362964458
rs539866239
355 G>W No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs764159699
CA3686100
358 P>H No ExAC
gnomAD
ClinGen
rs764159699
CA362964435
358 P>R No ExAC
gnomAD
ClinGen
rs775916287
CA3686098
359 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs763029350
CA3686099
359 Y>H No ExAC
gnomAD
ClinGen
CA362964404
rs1424813411
362 N>K No gnomAD
ClinGen
CA3686097
rs765768757
366 K>N No ExAC
TOPMed
gnomAD
ClinGen
rs1477151307
CA362964360
369 Q>* No gnomAD
ClinGen
rs759856191
CA3686096
369 Q>H No ExAC
gnomAD
ClinGen
CA362964328
rs771372842
373 S>A No ExAC
TOPMed
ClinGen
CA3686094
rs771372842
373 S>P No ExAC
TOPMed
ClinGen
CA362964315
rs1444213928
375 T>N No ClinGen
TOPMed
gnomAD
rs529722288
CA3686092
376 I>T No 1000Genomes
ExAC
gnomAD
ClinGen
CA3686093
rs746691639
376 I>V No ExAC
TOPMed
gnomAD
ClinGen
rs1165744980
CA362964305
377 H>Y No TOPMed
ClinGen
rs747682785
CA3686090
379 R>K No ExAC
gnomAD
ClinGen
CA3686089
rs778785871
380 I>T No ExAC
gnomAD
ClinGen
CA135884179
rs1051909105
380 I>V No ClinGen
TOPMed
gnomAD
CA362964282
rs1448575961
381 H>D No gnomAD
ClinGen
CA3686088
rs754917599
381 H>R No ExAC
gnomAD
ClinGen
rs749134210
CA3686087
383 G>R No ClinGen
ExAC
gnomAD
CA3686085
rs142560260
384 E>A No ESP
ExAC
gnomAD
ClinGen
CA3686086
rs779851192
384 E>K No ExAC
gnomAD
ClinGen
rs758472764
CA3686082
388 E>G No ExAC
TOPMed
gnomAD
ClinGen
CA362964235
rs1182957066
388 E>Q No gnomAD
ClinGen
CA362964218
rs1365613449
390 E>A No TOPMed
ClinGen
CA362964195
rs1432818223
393 G>E No TOPMed
ClinGen
COSM214295
rs765712189
CA3686080
393 G>R Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA362964187
rs1562318763
394 K>N No ClinGen
Ensembl
rs866580550
CA135884126
394 K>R No ClinGen
Ensembl
CA362964167
rs1260235335
397 S>T No gnomAD
ClinGen
rs1196916315
CA362964163
CA362964162
398 G>R No TOPMed
gnomAD
ClinGen
rs914126552
CA135884118
401 D>N No TOPMed
gnomAD
ClinGen
rs914126552
CA362964143
401 D>Y No TOPMed
gnomAD
ClinGen
CA362964130
rs1228838875
403 T>A No gnomAD
ClinGen
rs773058262
CA3686075
404 K>R No ExAC
gnomAD
ClinGen
rs771754606
CA362964109
406 I>L No ExAC
TOPMed
gnomAD
ClinGen
CA362964105
rs1377255427
406 I>M No gnomAD
ClinGen
rs867455160
CA135884083
406 I>R No Ensembl
ClinGen
rs771754606
CA3686074
406 I>V No ExAC
TOPMed
gnomAD
ClinGen
rs1332967583
CA362964098
407 R>S No gnomAD
ClinGen
rs761272102
CA3686072
410 T>S No ClinGen
ExAC
gnomAD
rs768005581
CA3686070
411 G>A No ExAC
gnomAD
ClinGen
CA3686071
rs773893837
411 G>W No ClinGen
ExAC
gnomAD
rs1412226774
CA362964073
412 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3686069
rs749224253
413 R>* No ExAC
TOPMed
gnomAD
ClinGen
CA362964065
rs749224253
413 R>G No ExAC
TOPMed
gnomAD
ClinGen
CA3686068
rs779904250
413 R>Q No ExAC
ClinGen
CA362964057
rs1218370397
414 P>L No TOPMed
ClinGen
rs745654988
CA3686066
416 E>K No ExAC
gnomAD
ClinGen
CA3686064
rs758622914
418 S>N No ExAC
gnomAD
ClinGen
rs1221988677
CA362964007
421 G>E No gnomAD
ClinGen
CA362964010
rs1232135808
421 G>R No gnomAD
ClinGen
rs979851329
CA135884023
422 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No Ensembl
ClinGen
NCI-TCGA
rs779080825
CA3686062
426 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA135884019
rs752812603
426 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362963970
rs1245084175
427 S>N No gnomAD
ClinGen
CA135884011
rs746585635
430 L>V No ClinGen
Ensembl
CA3686061
rs754948144
431 S>R No ExAC
TOPMed
gnomAD
ClinGen
CA3686060
rs754410344
434 K>E No ExAC
gnomAD
ClinGen
rs376683827
CA3686059
435 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376683827
CA135884008
435 R>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
COSM222093
rs147290671
CA3686058
435 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA3686057
rs750787921
436 I>N No ExAC
gnomAD
ClinGen
TCGA novel 436 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145687726
CA135883996
437 H>N No ESP
gnomAD
ClinGen
rs761553620
CA3686055
439 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA135883985
rs1010035148
439 R>W No TOPMed
ClinGen
CA3686053
rs768221808
441 K>R No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 442 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs995154602
CA135883962
442 H>R No TOPMed
ClinGen
rs1156904558
CA362963819
442 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs558888844
CA3686051
443 Y>C No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs138544477
CA3686052
443 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs558888844
CA135883953
443 Y>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3686049
rs140142892
445 C>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3686048
rs781062853
447 Q>* No ClinGen
ExAC
gnomAD
rs1221699026
CA362963749
448 C>R No gnomAD
ClinGen
CA362963711
rs1446957523
451 D>G No TOPMed
ClinGen
CA362963713
rs1287604648
451 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs1237290164
CA362963671
454 I>T No gnomAD
ClinGen
CA362963617
rs748407093
459 T>N No ExAC
gnomAD
ClinGen
rs748407093
CA3686046
459 T>S No ExAC
gnomAD
ClinGen
CA3686045
rs778945508
460 K>N No ExAC
TOPMed
gnomAD
ClinGen
CA362963589
rs1302869166
462 R>G No gnomAD
ClinGen
CA3686043
rs1554209162
463 R>T No Ensembl
ClinGen
CA3686041
rs749376478
464 I>F No ExAC
gnomAD
ClinGen
rs754196847
CA3686040
464 I>N No ExAC
TOPMed
gnomAD
ClinGen
rs754196847
CA362963563
464 I>T No ExAC
TOPMed
gnomAD
ClinGen
rs756669651
CA3686039
466 T>N No ClinGen
ExAC
gnomAD
rs750850546
CA3686038
467 E>D No ExAC
TOPMed
ClinGen
rs767960039
CA362963525
468 E>* No ExAC
TOPMed
gnomAD
ClinGen
rs1178511286
CA362963520
468 E>G No ClinGen
gnomAD
rs767960039
CA3686037
468 E>K No ExAC
TOPMed
gnomAD
ClinGen
rs757502622
CA3686036
470 R>C No ExAC
gnomAD
ClinGen
CA362963498
rs1471266659
470 R>H No TOPMed
ClinGen
CA135883897
rs756610969
471 Y>* No gnomAD
ClinGen
rs201940692
CA135883895
472 R>K No Ensembl
ClinGen
rs751279851
CA3686035
476 C>R No ClinGen
ExAC
gnomAD
CA3686034
rs763646901
477 G>V No ExAC
gnomAD
ClinGen
COSM1077184
rs774956255
CA3686032
481 R>C kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA3686030
rs200622488
481 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs200622488
CA3686031
481 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362963376
rs1211821767
482 H>R No gnomAD
ClinGen
CA362963378
rs1373543475
482 H>Y No TOPMed
ClinGen
CA362963360
rs1283086540
484 C>S No gnomAD
ClinGen
CA362963359
rs1283086540
484 C>Y No gnomAD
ClinGen
rs9295783
VAR_031136
CA3686029
486 R>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs149361721
CA3686026
486 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs149361721
CA3686028
486 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs149361721
CA3686027
486 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1276870191
CA362963344
487 R>K No gnomAD
ClinGen
rs1581662144
CA362963330
489 H>R No Ensembl
ClinGen
rs922405244
CA135883864
489 H>Y No TOPMed
ClinGen
CA362963324
rs1278178848
490 E>K No TOPMed
ClinGen
CA3686025
rs751092630
491 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362963293
rs1371416627
494 T>I No gnomAD
ClinGen
rs746395788
CA3686021
495 G>E No ExAC
gnomAD
ClinGen
CA3686022
rs756226112
495 G>R No ExAC
TOPMed
ClinGen
rs138720439
CA3686019
497 K>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362963268
rs1465936854
498 P>S No TOPMed
gnomAD
ClinGen
CA3686018
rs751836963
500 Q>P No ExAC
gnomAD
ClinGen
CA362963205
rs1179838379
501 C>* No TOPMed
ClinGen
rs1427795511
CA362963208
501 C>F No gnomAD
ClinGen
rs1256303177
CA362963193
502 R>G No gnomAD
ClinGen
rs1259833855
CA362963189
502 R>T No gnomAD
ClinGen
CA3686015
rs765217000
503 D>Y No ExAC
TOPMed
gnomAD
ClinGen
rs764731449
CA3686014
504 C>F No ExAC
gnomAD
ClinGen
rs936906998
CA135883803
505 G>E No Ensembl
ClinGen
rs758989723
CA3686013
505 G>R No ExAC
gnomAD
ClinGen
rs1320450363
CA362963131
506 K>E No gnomAD
ClinGen
CA362963124
rs1256516526
506 K>R No ClinGen
gnomAD
rs776688965
CA3686012
507 T>I No ExAC
gnomAD
ClinGen
rs1314991527
CA362963087
508 F>L No gnomAD
ClinGen
CA362963096
rs1341572844
508 F>S No gnomAD
ClinGen
CA362963048
rs1393238580
510 D>E No TOPMed
ClinGen
rs978616474
CA135883795
510 D>G No TOPMed
gnomAD
ClinGen
CA362963042
rs6456880
511 K>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs6456880 511 K>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs6456880
VAR_031137
CA3686011
511 K>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs566476041
CA135883786
513 C>Y No TOPMed
ClinGen
CA135883785
rs775237687
516 I>F No ClinGen
gnomAD
CA3686010
rs760560200
518 Q>E No ExAC
gnomAD
ClinGen
TCGA novel 519 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1397965886
CA362962884
520 I>S No ClinGen
TOPMed
rs1389329526
CA362962864
522 T>P No TOPMed
ClinGen
rs767026440
CA135883772
523 G>R No Ensembl
ClinGen
CA3686008
rs771947242
525 K>N No ClinGen
ExAC
gnomAD
CA3686009
rs772862997
525 K>T No ClinGen
ExAC
gnomAD
rs749556314
CA135883748
526 P>A No ExAC
TOPMed
gnomAD
ClinGen
CA3686007
rs749556314
526 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA362962800
rs749556314
526 P>T No ExAC
TOPMed
gnomAD
ClinGen
CA135883737
rs868490264
530 L>* No Ensembl
ClinGen
CA135883742
rs867942337
530 L>V No Ensembl
ClinGen
COSM137908
CA3686006
rs775792204
CA135883731
533 G>R skin [Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
rs992534224
CA135883728
536 F>S No Ensembl
ClinGen
rs745927394
CA3686004
537 S>R No ClinGen
ExAC
gnomAD
CA362962656
rs1241913095
537 S>T No gnomAD
ClinGen
CA362962606
rs1195561053
541 N>K No gnomAD
ClinGen
CA362962609
rs1248923513
541 N>S No gnomAD
ClinGen
CA3686000
rs778141417
542 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3686001
rs373967972
542 L>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3685999
rs758695384
545 H>R No ClinGen
ExAC
gnomAD
COSM184727
rs1026552201
CA135883705
546 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA3685998
rs369718686
546 R>Q No ESP
ExAC
gnomAD
ClinGen
rs778523963
CA3685997
547 R>I No ExAC
gnomAD
ClinGen
rs754584476
CA3685996
549 H>Q No ExAC
gnomAD
ClinGen
CA135883685
rs973366357
553 K>M No TOPMed
gnomAD
ClinGen
TCGA novel 554 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA135883683
rs767910604
555 H>Y No TOPMed
gnomAD
ClinGen
TCGA novel 556 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753257964
CA3685994
561 G>A No ExAC
TOPMed
gnomAD
ClinGen
COSM1271262
rs140407041
CA3685993
562 M>I oesophagus [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs1158690730
CA362962416
564 F>C No gnomAD
ClinGen
TCGA novel 566 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1441216087
CA362962405
566 H>N No ClinGen
TOPMed
gnomAD
CA3685992
rs551959866
566 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 568 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362962385
rs1181621894
568 S>L No gnomAD
ClinGen
rs138732075
CA135883670
571 R>K No ESP
TOPMed
gnomAD
ClinGen
CA362962355
rs1453759609
573 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
CA362962349
rs1193731382
574 K>* No TOPMed
ClinGen
CA362962347
rs1374311609
574 K>R No TOPMed
ClinGen
COSM184725
CA362962339
rs1581660236
575 R>I large_intestine [Cosmic] No Ensembl
ClinGen
cosmic curated
CA135883653
rs969504643
577 H>Y No TOPMed
ClinGen
CA135883647
rs751738332
578 T>S No TOPMed
ClinGen
TCGA novel 579 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685987
rs143179837
579 G>D No ESP
ExAC
gnomAD
ClinGen
rs143179837
CA3685988
579 G>V No ClinGen
ESP
ExAC
gnomAD
rs770105902
CA3685986
580 E>Q No ExAC
gnomAD
ClinGen
CA362962283
rs1279196354
584 T>A No gnomAD
ClinGen
CA3685985
rs759708205
584 T>I No ExAC
gnomAD
ClinGen
CA362962270
rs1331495077
586 S>G No gnomAD
ClinGen
rs1562313634
CA362962252
588 C>Y No ClinGen
Ensembl
CA3685983
rs75164486
590 T>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs75164486
CA3685984
590 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3685981
rs778194732
591 S>Y No ExAC
TOPMed
gnomAD
ClinGen
rs566459714
CA3685980
593 R>C No 1000Genomes
ExAC
gnomAD
ClinGen
CA362962221
rs1328703852
593 R>H No TOPMed
ClinGen
TCGA novel 595 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 595 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382055922
CA362962205
596 S>P No gnomAD
ClinGen
TCGA novel 596 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1277620231
CA362962195
597 A>D No TOPMed
ClinGen
CA3685978
rs748507963
597 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs149909685
CA3685977
598 L>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3685976
rs754567036
599 I>T No ExAC
TOPMed
gnomAD
ClinGen
CA3685975
rs753483391
601 H>R No ExAC
gnomAD
ClinGen
rs1480431763
CA362962162
COSM1442840
603 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA362962160
rs1264528533
603 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA362962155
rs1389638451
604 V>A No gnomAD
ClinGen
rs900919087
CA135883567
604 V>I No TOPMed
ClinGen
CA362962158
rs900919087
604 V>L No TOPMed
ClinGen
rs1219348128
CA362962144
606 T>A No gnomAD
ClinGen
rs773743029
CA135883506
611 Y>H No Ensembl
ClinGen
CA362962078
rs1283592370
615 E>K No gnomAD
ClinGen
CA3685973
rs140167813
616 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3685972
rs755588175
623 S>G No ExAC
gnomAD
ClinGen
CA362962018
rs1221449909
623 S>R No gnomAD
ClinGen
rs750403592
CA3685971
624 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1344875821
CA362962015
624 S>T No TOPMed
gnomAD
ClinGen
TCGA novel 627 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 628 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767554164
CA3685969
628 G>R No ExAC
gnomAD
ClinGen
CA3685968
rs761736631
629 H>R No ExAC
gnomAD
ClinGen
TCGA novel 632 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362961943
rs751374854
632 R>K No ExAC
TOPMed
gnomAD
ClinGen
rs751374854
CA3685967
632 R>T No ExAC
TOPMed
gnomAD
ClinGen
rs759706820
CA3685964
634 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3685966
rs375706355
634 H>Y No ESP
ExAC
TOPMed
ClinGen
rs757643177
CA3685963
635 Q>R No ExAC
gnomAD
ClinGen
rs1289785769
CA362961887
636 V>A No TOPMed
ClinGen
TCGA novel 636 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3685962
rs770928483
637 W>* No ExAC
gnomAD
ClinGen
rs1469618442
CA362961882
637 W>R No gnomAD
ClinGen
rs760729543
CA3685961
640 H>R No ExAC
TOPMed
gnomAD
ClinGen
rs1380976643
CA362961817
642 L>F No ClinGen
TOPMed
CA3685959
rs772562147
644 G>E No ExAC
gnomAD
ClinGen
CA3685958
rs748568910
645 S>N No ExAC
gnomAD
ClinGen
rs1261491253
CA362961772
646 R>G No ClinGen
gnomAD
CA362961728
rs1203195271
649 L>P No gnomAD
ClinGen
rs138884065
CA3685957
651 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3685956
rs776466548
653 T>S No ExAC
gnomAD
ClinGen
rs1253026389
CA362961685
654 V>A No gnomAD
ClinGen
CA3685954
rs529738118
659 V>G No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs560820004
CA3685953
661 S>G No 1000Genomes
ExAC
gnomAD
ClinGen
CA362961236
rs1448121495
665 S>N No gnomAD
ClinGen
rs551802157
CA135883436
666 A>T No Ensembl
ClinGen
rs761140921
CA3685952
667 A>E No ExAC
ClinGen
rs916905160
CA135883431
667 A>S No TOPMed
ClinGen

No associated diseases with Q5JNZ3

15 regional properties for Q5JNZ3

Type Name Position InterPro Accession
domain Krueppel-associated box 63 - 135 IPR001909
domain Zinc finger C2H2-type 247 - 274 IPR013087-1
domain Zinc finger C2H2-type 275 - 302 IPR013087-2
domain Zinc finger C2H2-type 303 - 330 IPR013087-3
domain Zinc finger C2H2-type 331 - 358 IPR013087-4
domain Zinc finger C2H2-type 359 - 386 IPR013087-5
domain Zinc finger C2H2-type 387 - 414 IPR013087-6
domain Zinc finger C2H2-type 415 - 442 IPR013087-7
domain Zinc finger C2H2-type 443 - 470 IPR013087-8
domain Zinc finger C2H2-type 471 - 498 IPR013087-9
domain Zinc finger C2H2-type 499 - 526 IPR013087-10
domain Zinc finger C2H2-type 527 - 554 IPR013087-11
domain Zinc finger C2H2-type 555 - 582 IPR013087-12
domain Zinc finger C2H2-type 583 - 610 IPR013087-13
domain Zinc finger C2H2-type 611 - 634 IPR013087-14

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.

3 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.
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.

1 GO annotations of biological process

Name Definition
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
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 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
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
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
Q9UL58 ZNF215 Zinc finger protein 215 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
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 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
Q9H9D4 ZNF408 Zinc finger protein 408 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
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 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
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 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
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 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
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
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
P49910 ZNF165 Zinc finger protein 165 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
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 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
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 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
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
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C 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
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 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
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 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
MQEVVLLDES SGPPSQLLWT RQDTQLPQES ALLPAPYPAF TKDGSQGNLP QADITLMSQA
70 80 90 100 110 120
QESVTFEDVA VNFTNREWQC LTYAQRHLYK DVMLENYGNM VSLGFPFPKP PLISHLEREV
130 140 150 160 170 180
DPCVQDPQDR ESLSCSYPVS ADKMWPENEK ASSQQEIFEN GEAYWMKFNS LLKVDSRDPK
190 200 210 220 230 240
VREVCVQDVK LENQWETSIR EKLREEKEGS EEVTCKKGKN QKVLSKNLNP NSKHSQCNKV
250 260 270 280 290 300
LIAQKLHECA RCGKNFSWHS DLILHEQIHS GEKPHVCNEC GKAFKTRNQL SMHRIIHTGE
310 320 330 340 350 360
KPFNCTQCGK AFNSRSALCR HKKTHSGEKP HECRDCGKAF KTRNRLCMHQ LIHTGEKPYK
370 380 390 400 410 420
CNCCGKAFQF KHSLTIHGRI HTGEKPYECE ECGKAFSGSS DLTKHIRIHT GERPYECSKC
430 440 450 460 470 480
GRAFSRSSDL SKHKRIHTRE KHYGCPQCGK DFSIKAELTK HRRIHTEEKR YRCEECGKAF
490 500 510 520 530 540
RHNCKRRAHE REHTGEKPYQ CRDCGKTFQD KHCLTIHQRI HTGEKPYKCL ECGKAFSGKS
550 560 570 580 590 600
NLTNHRRIHT GEKPHKCEVC GMAFHHSSVL RQHKRIHTGE KPYTCSECGT SFRQGSALIG
610 620 630 640 650 660
HKRVHTGEKP YECEECGKAF RVSSNLTGHK KRKHQVWSTH ELDGSRKSLS PVTVSQTSVV
SILTSA