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 Q9Y4X4

Entry ID Method Resolution Chain Position Source
AF-Q9Y4X4-F1 Predicted AlphaFoldDB

265 variants for Q9Y4X4

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757932259
CA7003177
4 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA388353294
rs1369304945
5 M>T No ClinGen
gnomAD
CA7003175
rs185300395
9 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1566497222
CA388353264
9 T>S No ClinGen
Ensembl
CA7003174
rs754990074
10 I>R No ClinGen
ExAC
gnomAD
CA252704826
rs112263520
10 I>V No ClinGen
Ensembl
rs764303635
CA7003149
14 N>S No ClinGen
ExAC
gnomAD
CA7003148
rs762948057
15 T>I No ClinGen
ExAC
gnomAD
CA388353199
rs762948057
15 T>N No ClinGen
ExAC
gnomAD
rs765691786
CA7003146
18 N>S No ClinGen
ExAC
gnomAD
CA7003145
rs759947614
19 R>G No ClinGen
ExAC
gnomAD
rs777183578
CA7003144
20 M>V No ClinGen
ExAC
gnomAD
CA7003142
rs761622207
22 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA7003143
rs553035366
22 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs375136358
CA252699016
23 L>F No ClinGen
TOPMed
rs1285834611
CA388353139
24 D>G No ClinGen
TOPMed
rs773876873
CA7003141
24 D>N No ClinGen
ExAC
gnomAD
rs768158278
CA7003140
25 G>R No ClinGen
ExAC
gnomAD
rs748773890
CA7003139
26 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1427910552
CA388353127
26 M>K No ClinGen
gnomAD
TCGA novel 27 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs561758371
CA7003137
28 A>P No ClinGen
1000Genomes
ExAC
gnomAD
CA7003135
rs542604703
30 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1480963536
CA388353102
30 R>I No ClinGen
gnomAD
CA7003132
rs777879429
35 L>F No ClinGen
ExAC
gnomAD
CA7003130
rs376042261
36 L>F No ClinGen
ESP
ExAC
gnomAD
CA7003131
rs758462923
36 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA7003129
rs765752275
40 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1255038767
CA388353028
41 G>E No ClinGen
gnomAD
CA388353001
rs1297551042
42 S>C No ClinGen
TOPMed
rs1462410334
CA388353004
42 S>P No ClinGen
gnomAD
TCGA novel 42 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388352992
rs1245797111
44 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs776657675
CA7003104
45 V>I No ClinGen
ExAC
gnomAD
rs200631472
CA7003103
46 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388352971
rs1226484491
47 N>D No ClinGen
gnomAD
rs764662531
CA7003102
47 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs1314506702
CA388352964
48 Y>H No ClinGen
gnomAD
CA252687733
rs915582199
48 Y>S No ClinGen
TOPMed
TCGA novel 49 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1246774933
CA388352956
49 P>S No ClinGen
gnomAD
CA7003100
rs574902537
50 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1430467920
CA388352939
51 M>I No ClinGen
gnomAD
CA7003099
rs770893161
51 M>T No ClinGen
ExAC
rs746796522
CA7003098
52 E>K No ClinGen
ExAC
TOPMed
rs772937895
CA7003097
53 A>V No ClinGen
ExAC
gnomAD
CA7003095
rs376189616
54 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388352915
rs1365476163
55 P>L No ClinGen
gnomAD
rs1445914506
CA388352912
56 L>P No ClinGen
gnomAD
CA388352904
rs1430383558
57 L>F No ClinGen
TOPMed
CA7003093
rs755057199
58 L>Q No ClinGen
ExAC
gnomAD
CA388352898
rs1185512609
59 N>D No ClinGen
gnomAD
CA7003092
rs749413395
60 N>H No ClinGen
ExAC
gnomAD
CA388352883
rs1435312697
61 V>L No ClinGen
TOPMed
rs961087593
CA252687731
62 K>R No ClinGen
Ensembl
CA7003091
rs780677974
63 G>A No ClinGen
ExAC
gnomAD
rs1594163430
CA388352870
63 G>R No ClinGen
Ensembl
CA388352858
rs1594163412
64 E>D No ClinGen
Ensembl
CA388352865
rs1173461029
64 E>K No ClinGen
TOPMed
rs1292336168
CA388352856
65 P>A No ClinGen
TOPMed
gnomAD
CA388352857
rs1292336168
65 P>T No ClinGen
TOPMed
gnomAD
rs373909446
CA7003090
66 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA252687729
rs373909446
66 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 66 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388352844
rs1293776619
67 E>A No ClinGen
gnomAD
rs767837826
CA7003088
68 D>H No ClinGen
ExAC
gnomAD
CA7003087
COSM348863
rs757646750
69 S>L lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA388352810
rs1345445166
72 V>A No ClinGen
gnomAD
CA388352798
rs1304207455
74 H>Y No ClinGen
gnomAD
CA388352791
rs1438014979
75 F>L No ClinGen
gnomAD
CA388352775
rs1566412693
77 T>A No ClinGen
Ensembl
CA7003083
rs776166386
86 I>R No ClinGen
ExAC
TOPMed
gnomAD
rs766290106
CA7003082
90 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA388352678
rs569483080
91 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7003081
rs569483080
91 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA252687727
rs775332866
93 P>S No ClinGen
Ensembl
rs747994217
CA7003078
94 T>P No ClinGen
ExAC
gnomAD
rs531869423
CA388352660
95 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531869423
CA7003077
95 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771843770
CA7003075
96 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 97 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780342553
CA388352637
99 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA7003074
rs780342553
99 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs756641598
CA7003073
100 P>L No ClinGen
ExAC
gnomAD
rs746294490
CA7003072
103 M>V No ClinGen
ExAC
gnomAD
CA7003071
rs781729948
104 T>I No ClinGen
ExAC
gnomAD
rs1303625637
CA388352602
105 A>P No ClinGen
TOPMed
rs1303625637
CA388352601
105 A>S No ClinGen
TOPMed
rs751960316
CA7003069
106 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA388352589
rs1292719018
107 A>V No ClinGen
TOPMed
rs1373852859
CA388352585
108 S>A No ClinGen
TOPMed
CA388352578
rs1447757902
109 S>A No ClinGen
TOPMed
rs1311779192
CA388352569
110 P>L No ClinGen
TOPMed
CA388352556
rs1442228223
113 T>A No ClinGen
gnomAD
CA388352554
rs1442228223
113 T>P No ClinGen
gnomAD
CA252687724
rs1057562
116 S>P No ClinGen
Ensembl
CA7003064
rs150943448
118 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7003062
rs777942888
119 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7003061
rs142451819
122 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144692979
CA7003060
122 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388352494
rs1234877447
124 A>T No ClinGen
gnomAD
rs768991101
CA7003058
124 A>V No ClinGen
ExAC
gnomAD
rs769706394
CA7003055
125 S>T No ClinGen
ExAC
gnomAD
CA7003053
rs144313130
128 T>A No ClinGen
ESP
ExAC
gnomAD
CA388352459
rs1223921454
130 I>N No ClinGen
gnomAD
CA388352458
rs1223921454
130 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7003052
rs369653133
130 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 131 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150040933
COSM1212573
CA7003051
136 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM948399
CA7003048
rs753427035
139 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7003046
rs755535662
140 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA252687721
rs945920415
141 T>A No ClinGen
TOPMed
rs538182823
CA7003045
142 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA388352392
rs538182823
142 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7003044
rs767338522
144 T>I No ClinGen
ExAC
gnomAD
rs1289815867
CA388352355
148 L>F No ClinGen
TOPMed
rs1345278868
CA388352346
149 V>G No ClinGen
TOPMed
gnomAD
rs751399618
CA7003042
152 A>P No ClinGen
ExAC
gnomAD
CA388352333
rs751399618
152 A>T No ClinGen
ExAC
gnomAD
CA7003041
rs763915082
154 G>S No ClinGen
ExAC
gnomAD
CA7003040
rs762855334
156 G>R No ClinGen
ExAC
gnomAD
CA7003039
rs146327323
156 G>V No ClinGen
ESP
ExAC
gnomAD
TCGA novel 160 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388352277
rs1367308651
161 L>M No ClinGen
TOPMed
gnomAD
CA252687720
rs968928097
163 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 165 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs535553088
CA7003036
166 P>R No ClinGen
ExAC
gnomAD
rs138812420
CA7003034
167 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138812420
CA7003035
167 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150626364
CA7003033
168 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 169 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1594162689
CA388352181
175 L>S No ClinGen
Ensembl
TCGA novel 175 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7003028
rs755841328
176 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs745359535
CA7003027
179 K>R No ClinGen
ExAC
gnomAD
rs1444016344
CA388352141
181 S>C No ClinGen
gnomAD
rs1427161626
CA388352111
185 R>H No ClinGen
gnomAD
CA7003026
rs780825753
185 R>S No ClinGen
ExAC
gnomAD
rs558170937
CA252687717
188 V>M No ClinGen
gnomAD
CA388352087
rs1290145938
189 V>E No ClinGen
gnomAD
rs1359526637
CA388352084
190 V>I No ClinGen
gnomAD
rs371734093
CA252687716
191 Q>E No ClinGen
ESP
TOPMed
CA7003021
rs533540212
191 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA388352069
rs1296059893
192 S>L No ClinGen
gnomAD
rs1317742057
CA388352071
192 S>P No ClinGen
TOPMed
rs1238472276
CA388352059
194 P>A No ClinGen
gnomAD
TCGA novel 196 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388352048
rs766424247
196 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA7003017
rs766424247
196 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA388352039
rs1424161860
197 Y>C No ClinGen
gnomAD
TCGA novel 198 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7003016
rs151327230
203 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752099787
CA7003014
206 V>A No ClinGen
ExAC
rs887336943
CA252687715
206 V>M No ClinGen
TOPMed
rs1372669285
CA388351968
208 N>S No ClinGen
gnomAD
rs748487379
CA388351963
209 T>A No ClinGen
ExAC
gnomAD
rs748487379
CA7003013
209 T>S No ClinGen
ExAC
gnomAD
rs774840041
CA7003012
210 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780721355
CA7003009
212 V>A No ClinGen
ExAC
gnomAD
CA388351947
rs375091947
212 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7003010
COSM288440
rs375091947
212 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7003008
rs756779759
213 P>L No ClinGen
ExAC
gnomAD
rs1338362150
CA388351941
213 P>S No ClinGen
gnomAD
rs1405450710
CA388351905
218 G>E No ClinGen
gnomAD
rs372760583
CA7003004
222 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375557815
CA7002983
225 Q>E No ClinGen
ESP
ExAC
gnomAD
CA388351840
rs1412663813
226 M>R No ClinGen
TOPMed
gnomAD
rs756384551
CA7002982
226 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs750500573
CA388351830
227 D>E No ClinGen
ExAC
gnomAD
rs200260466
CA388351822
229 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs200260466
CA252683837
229 R>G No ClinGen
gnomAD
rs767522822
CA7002980
229 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1282132326
CA388351815
230 G>D No ClinGen
TOPMed
gnomAD
CA388351818
rs1462483269
230 G>S No ClinGen
gnomAD
rs537130260
CA7002978
232 S>A No ClinGen
1000Genomes
ExAC
gnomAD
rs764541268
CA7002977
234 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs757861922
CA252683836
235 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1380867379
CA388351775
237 K>E No ClinGen
gnomAD
rs776047704
CA7002975
237 K>R No ClinGen
ExAC
gnomAD
rs770700596
CA7002974
239 D>G No ClinGen
ExAC
gnomAD
CA388351743
rs1316893658
241 D>V No ClinGen
gnomAD
rs373341263
CA252683835
242 D>V No ClinGen
ESP
TOPMed
CA7002973
rs760335816
244 D>Y No ClinGen
ExAC
gnomAD
rs1428763512
CA388351712
245 L>P No ClinGen
TOPMed
rs201686630
CA7002971
247 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388351696
rs1323573774
248 V>M No ClinGen
TOPMed
CA388351675
rs1384294936
251 D>G No ClinGen
TOPMed
gnomAD
CA388351665
rs754841548
252 S>R No ClinGen
ExAC
gnomAD
CA7002967
rs375809451
COSM948395
253 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755910688
CA7002965
259 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1287996767
CA388351620
259 T>M No ClinGen
TOPMed
gnomAD
CA7002962
rs141351721
262 S>P No ClinGen
ESP
ExAC
rs1357358434
CA388351595
264 A>T No ClinGen
gnomAD
rs1208829798
CA388351576
267 V>I No ClinGen
TOPMed
rs767184668
CA7002935
272 P>L No ClinGen
ExAC
gnomAD
rs774060156
CA7002933
273 S>P No ClinGen
ExAC
gnomAD
CA388351515
rs1489502158
274 P>S No ClinGen
TOPMed
gnomAD
CA388351509
rs1221480689
275 V>L No ClinGen
TOPMed
TCGA novel 277 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388351497
rs1204066088
277 R>W No ClinGen
gnomAD
rs1458521636
CA388351491
278 V>I No ClinGen
gnomAD
rs775367228
CA7002930
279 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA388351479
rs1302584442
280 G>C No ClinGen
gnomAD
CA388351478
rs1220513306
280 G>D No ClinGen
gnomAD
rs1302584442
CA388351481
280 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7002928
rs745644480
281 N>Y No ClinGen
ExAC
gnomAD
TCGA novel 282 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401964191
CA388351462
283 M>V No ClinGen
gnomAD
CA388351435
rs935764081
286 Q>P No ClinGen
TOPMed
gnomAD
CA252678525
rs935764081
286 Q>R No ClinGen
TOPMed
gnomAD
rs184383555
CA7002926
287 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7002924
rs145849663
290 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1275748841
CA388350941
294 P>A No ClinGen
TOPMed
rs1203920280
CA388350935
295 F>L No ClinGen
TOPMed
rs1183914353
CA388350927
296 S>G No ClinGen
gnomAD
rs891600489
CA252672745
297 I>T No ClinGen
Ensembl
CA7002901
rs768858509
297 I>V No ClinGen
ExAC
gnomAD
CA7002899
rs780634032
299 S>N No ClinGen
ExAC
gnomAD
rs1216790452
CA388350902
299 S>R No ClinGen
gnomAD
rs1355210044
CA388350900
300 T>P No ClinGen
gnomAD
CA252672744
COSM551749
rs200541651
302 R>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7002898
rs200541651
302 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 304 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7002896
rs777273071
305 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750839981
CA7002897
305 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA252672743
rs1044483879
306 S>C No ClinGen
Ensembl
rs930953419
CA252672742
307 E>K No ClinGen
Ensembl
rs199620438
CA7002894
308 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1417298987
CA388350843
309 P>L No ClinGen
TOPMed
CA388350811
rs1361186909
314 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 314 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA252672741
rs1036701622
315 R>C No ClinGen
gnomAD
COSM3384894
CA7002891
rs753676273
315 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1161710419
CA388350785
318 R>K No ClinGen
gnomAD
CA388350716
rs1432443795
327 V>A No ClinGen
TOPMed
rs766377177
CA7002890
329 T>A No ClinGen
ExAC
gnomAD
CA7002889
rs760360931
331 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 331 S>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7002887
rs772418501
338 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773116704
CA7002888
338 R>W No ClinGen
ExAC
gnomAD
rs753432392
CA7002873
345 K>R No ClinGen
ExAC
gnomAD
rs1042318340
CA252670611
348 K>E No ClinGen
TOPMed
CA388351334
rs1593966173
351 W>* No ClinGen
Ensembl
CA7002871
rs756142584
353 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs756142584
CA388351317
353 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs750330965
CA252670609
358 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA388351269
rs1258496698
360 R>G No ClinGen
gnomAD
CA388351267
rs767360300
360 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7002869
rs767360300
360 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs775701056
CA7002864
375 K>R No ClinGen
ExAC
gnomAD
CA388351148
rs1332469280
378 K>E No ClinGen
gnomAD
rs746322196
CA7002862
380 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs777139465
CA7002861
380 A>V No ClinGen
ExAC
gnomAD
rs778511394
CA7002858
381 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1178989834
CA388351118
382 C>Y No ClinGen
gnomAD
CA252670603
rs941817144
COSM1706840
384 R>C Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1438715687
CA388351103
384 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA388351101
rs1438715687
384 R>L No ClinGen
gnomAD
TCGA novel 390 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1200377387
CA388351039
393 A>V No ClinGen
TOPMed
gnomAD
CA388351031
rs1262487531
395 H>Y No ClinGen
gnomAD
rs1257857115
CA388351018
397 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755590689
CA7002854
400 M>V No ClinGen
ExAC
gnomAD
rs1310253531
CA388350984
402 V>M No ClinGen
gnomAD

No associated diseases with Q9Y4X4

3 regional properties for Q9Y4X4

Type Name Position InterPro Accession
domain Zinc finger C2H2-type 317 - 346 IPR013087-1
domain Zinc finger C2H2-type 347 - 376 IPR013087-2
domain Zinc finger C2H2-type 377 - 399 IPR013087-3

Functions

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

3 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

7 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 A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
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.
DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases 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.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

3 GO annotations of biological process

Name Definition
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
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
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 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
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
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
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 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
Q96BV0 ZNF775 Zinc finger protein 775 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
Q5FWF6 ZNF789 Zinc finger protein 789 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
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
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
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
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
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
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
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
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
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 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
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
O35738 Klf12 Krueppel-like factor 12 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
MNIHMKRKTI KNINTFENRM LMLDGMPAVR VKTELLESEQ GSPNVHNYPD MEAVPLLLNN
70 80 90 100 110 120
VKGEPPEDSL SVDHFQTQTE PVDLSINKAR TSPTAVSSSP VSMTASASSP SSTSTSSSSS
130 140 150 160 170 180
SRLASSPTVI TSVSSASSSS TVLTPGPLVA SASGVGGQQF LHIIHPVPPS SPMNLQSNKL
190 200 210 220 230 240
SHVHRIPVVV QSVPVVYTAV RSPGNVNNTI VVPLLEDGRG HGKAQMDPRG LSPRQSKSDS
250 260 270 280 290 300
DDDDLPNVTL DSVNETGSTA LSIARAVQEV HPSPVSRVRG NRMNNQKFPC SISPFSIEST
310 320 330 340 350 360
RRQRRSESPD SRKRRIHRCD FEGCNKVYTK SSHLKAHRRT HTGEKPYKCT WEGCTWKFAR
370 380 390 400
SDELTRHYRK HTGVKPFKCA DCDRSFSRSD HLALHRRRHM LV