Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

3 structures for Q9BY66

Entry ID Method Resolution Chain Position Source
2E6R NMR - A 306-384 PDB
2YQE NMR - A 79-171 PDB
AF-Q9BY66-F1 Predicted AlphaFoldDB

344 variants for Q9BY66

Variant ID(s) Position Change Description Diseaes Association Provenance
rs199813705
CA10575102
3 P>L No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs199813705
CA10575101
3 P>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA337441312
rs946898687
4 G>A No ClinGen
gnomAD
CA414847551
rs946898687
4 G>E No ClinGen
gnomAD
CA10575100
rs760637210
4 G>R No ClinGen
ExAC
gnomAD
rs1569369743
CA414847382
15 P>L No ClinGen
Ensembl
CA10575096
rs774041797
17 F>I No ClinGen
ExAC
gnomAD
CA10575095
rs768207947
25 Q>R No ClinGen
ExAC
gnomAD
CA414847157
rs1405878724
31 I>V No ClinGen
gnomAD
rs1367436464
CA414847092
35 R>M No ClinGen
gnomAD
CA10575094
rs749599093
39 E>G No ClinGen
ExAC
gnomAD
rs780597809
CA414847022
40 K>M No ClinGen
ExAC
gnomAD
rs780597809
CA10575093
40 K>T No ClinGen
ExAC
gnomAD
CA10575092
rs756644777
47 R>C No ClinGen
ExAC
gnomAD
TCGA novel 47 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1365840574
CA414846722
58 V>A No ClinGen
gnomAD
rs1274321260
CA414846718
59 E>Q No ClinGen
gnomAD
CA10575085
rs753589349
62 N>S No ClinGen
ExAC
gnomAD
rs2521574
CA337441284
64 R>K No ClinGen
Ensembl
CA337441283
rs371502336
68 R>C No ClinGen
ESP
gnomAD
rs1034100630
CA337441282
69 V>I No ClinGen
gnomAD
CA337441256
rs267606535
88 Q>* No ClinGen
Ensembl
TCGA novel 91 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1325695403
CA414846058
92 F>L No ClinGen
gnomAD
CA414845919
rs1569368909
102 I>T No ClinGen
Ensembl
CA10575071
rs781713460
104 N>S No ClinGen
ExAC
gnomAD
rs777742522
CA10575068
115 L>F No ClinGen
ExAC
gnomAD
rs762596355
CA10575058
118 I>F No ClinGen
ExAC
CA414845574
rs1603546075
124 G>A No ClinGen
Ensembl
CA414845515
rs1603546074
128 I>M No ClinGen
Ensembl
rs1378103890
CA414845471
131 D>G No ClinGen
gnomAD
CA10575057
rs769631336
132 R>H No ClinGen
ExAC
gnomAD
rs769631336
CA10575056
132 R>L No ClinGen
ExAC
gnomAD
CA414845447
rs1454244319
133 R>Q No ClinGen
gnomAD
rs776861979
CA10575054
143 Y>H No ClinGen
ExAC
gnomAD
CA414845295
rs1345753651
144 P>L No ClinGen
Ensembl
rs771425528
CA10575053
149 I>T No ClinGen
ExAC
gnomAD
CA10575052
rs747492393
151 S>C No ClinGen
ExAC
gnomAD
rs1422595247
CA414845096
159 R>C No ClinGen
gnomAD
CA414845090
rs1413436679
159 R>L No ClinGen
gnomAD
CA10575049
rs748291282
160 I>V No ClinGen
ExAC
gnomAD
CA10575047
rs755199132
173 H>R No ClinGen
ExAC
gnomAD
rs750193514
CA10575046
174 V>M No ClinGen
ExAC
gnomAD
CA414844817
rs1291291671
176 C>G No ClinGen
gnomAD
CA414844756
rs1456833884
180 P>Q No ClinGen
gnomAD
rs764912539
CA10575038
183 N>H No ClinGen
ExAC
gnomAD
rs1164578875
CA414844712
183 N>S No ClinGen
gnomAD
CA414844544
rs1419904980
195 I>M No ClinGen
gnomAD
TCGA novel 198 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337441214
rs867740189
203 P>H No ClinGen
Ensembl
rs771177727
CA10575035
208 S>N No ClinGen
ExAC
gnomAD
CA10575034
rs369689683
211 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs868219886
CA337441213
212 R>L No ClinGen
Ensembl
rs1224670916
CA414844278
212 R>W No ClinGen
gnomAD
rs1358953604
CA414844017
220 P>R No ClinGen
gnomAD
CA414843972
rs1454492868
223 T>A No ClinGen
gnomAD
CA414843974
rs1454492868
223 T>P No ClinGen
gnomAD
rs1365816310
CA414843832
230 H>P No ClinGen
gnomAD
rs1432628088
CA414843727
235 K>N No ClinGen
gnomAD
rs367811199
CA10575024
238 I>M No ClinGen
ESP
ExAC
gnomAD
rs766143895
CA10575023
239 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
CA414843637
rs1487269358
242 G>R No ClinGen
gnomAD
rs777798643
CA10575022
249 G>V No ClinGen
ExAC
gnomAD
CA337441134
rs374506583
253 K>E No ClinGen
ESP
rs1352363980
CA414843421
254 D>G No ClinGen
gnomAD
TCGA novel 254 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337441132
rs973739517
256 D>E No ClinGen
Ensembl
CA10575020
rs752211172
256 D>V No ClinGen
ExAC
gnomAD
CA10575019
rs764857307
259 V>L No ClinGen
ExAC
gnomAD
CA10575009
rs750429701
265 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1461547786 268 T>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA10575005
rs746730690
270 T>M No ClinGen
ExAC
CA10575006
rs3212285
270 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1228823823
CA414843000
274 E>V No ClinGen
gnomAD
rs758357463
CA10575003
278 G>C No ClinGen
ExAC
gnomAD
CA10575002
rs748073274
278 G>D No ClinGen
ExAC
gnomAD
rs372522294
CA10575001
284 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA10574999
rs753444324
289 H>L No ClinGen
ExAC
gnomAD
rs754442283
CA10575000
289 H>Y No ClinGen
ExAC
gnomAD
rs755822885
CA10574998
296 T>I No ClinGen
ExAC
gnomAD
rs755822885
CA10574997
296 T>S No ClinGen
ExAC
gnomAD
rs1603546016
CA414842590
299 T>N No ClinGen
Ensembl
rs1245759378
CA414842211
315 Y>C No ClinGen
gnomAD
CA10574983
rs775246871
315 Y>D No ClinGen
1000Genomes
ExAC
rs777038395
CA10574982
321 S>F No ClinGen
ExAC
gnomAD
CA10574981
rs771957697
341 I>V No ClinGen
ExAC
gnomAD
rs778700335
CA10574979
347 P>L No ClinGen
ExAC
gnomAD
CA10574978
rs768650836
364 A>V No ClinGen
ExAC
rs764445193
CA10574970
367 K>E No ClinGen
ExAC
gnomAD
CA337440978
rs899613472
377 Q>E No ClinGen
gnomAD
CA10574969
rs763543567
381 E>D No ClinGen
ExAC
CA10574966
rs759727009
393 S>F No ClinGen
ExAC
gnomAD
rs776987482
CA10574964
396 S>F No ClinGen
ExAC
gnomAD
rs771336208
CA10574963
397 D>N No ClinGen
ExAC
gnomAD
rs761640649
CA10574962
400 N>S No ClinGen
ExAC
gnomAD
rs1490676505
CA414840490
411 V>A No ClinGen
gnomAD
rs61750268
CA337440959
411 V>L No ClinGen
Ensembl
rs1046692785
CA337440957
413 K>N No ClinGen
Ensembl
CA414840376
rs1569366470
418 L>Q No ClinGen
Ensembl
rs1603545972
CA414840241
425 D>E No ClinGen
Ensembl
CA337440950
rs2032618
CA337440952
426 V>L No ClinGen
ExAC
gnomAD
rs2032618
CA10574951
426 V>M No ClinGen
ExAC
gnomAD
CA337440948
rs929564908
429 E>D No ClinGen
Ensembl
rs753213379
CA10574950
434 I>T No ClinGen
ExAC
gnomAD
rs928869795
CA337440946
446 S>N No ClinGen
Ensembl
rs982052810
CA337440944
447 N>S No ClinGen
Ensembl
rs1262574616
CA414852185
460 A>V No ClinGen
gnomAD
rs775488459
CA10574939
462 S>N No ClinGen
ExAC
gnomAD
CA10574938
rs769740357
464 W>R No ClinGen
ExAC
gnomAD
CA10574937
rs745319454
469 M>I No ClinGen
ExAC
gnomAD
rs1213936295
CA414852079
470 P>A No ClinGen
gnomAD
CA10574935
rs770519026
481 N>S No ClinGen
ExAC
gnomAD
rs746649132
CA10574934
482 A>T No ClinGen
ExAC
gnomAD
CA10574933
rs777326175
490 P>S No ClinGen
ExAC
gnomAD
CA414851693
rs1168882283
504 H>R No ClinGen
gnomAD
rs866860857
CA337440495
506 E>D No ClinGen
Ensembl
rs1188716288
CA414851582
513 I>T No ClinGen
gnomAD
CA10574932
rs758782377
513 I>V No ClinGen
ExAC
gnomAD
rs748518487
CA10574931
515 Y>C No ClinGen
ExAC
gnomAD
CA10574922
rs775155250
519 G>A No ClinGen
ExAC
gnomAD
rs759494962
CA10574920
529 S>P No ClinGen
ExAC
TCGA novel 534 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337440481
rs1042221646
537 E>D No ClinGen
gnomAD
CA10574919
rs776595397
541 M>I No ClinGen
ExAC
gnomAD
rs770392415
CA10574918
548 D>E No ClinGen
ExAC
gnomAD
CA414851020
rs1248500921
561 M>V No ClinGen
gnomAD
CA10574915
rs771635442
569 H>R No ClinGen
ExAC
gnomAD
rs756207753
CA10574908
589 R>H No ClinGen
ExAC
gnomAD
CA10574907
rs775977354
597 Q>FC* No ClinGen
ExAC
gnomAD
CA414850307
rs1197109051
617 R>S No ClinGen
gnomAD
CA10574899
rs753768084
618 Q>R No ClinGen
ExAC
gnomAD
rs1269319594
CA414850271
620 I>V No ClinGen
gnomAD
rs766359320
CA10574898
625 R>L No ClinGen
ExAC
gnomAD
rs766359320
CA337440299
625 R>Q No ClinGen
ExAC
gnomAD
CA10574897
rs760173648
627 R>Q No ClinGen
ExAC
gnomAD
CA10574896
rs772599560
629 Y>S No ClinGen
ExAC
gnomAD
CA414850124
rs1318134868
633 S>F No ClinGen
gnomAD
rs1603545791
CA414850090
636 E>* No ClinGen
Ensembl
CA414850031
rs1222215197
641 M>V No ClinGen
gnomAD
TCGA novel 646 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774188432
CA10574892
647 T>M No ClinGen
ExAC
gnomAD
rs1383291648
CA414849916
651 N>D No ClinGen
gnomAD
CA10574890
rs749730855
651 N>S No ClinGen
ExAC
gnomAD
rs780651186
CA10574889
653 A>P No ClinGen
ExAC
gnomAD
CA10574888
rs770210674
656 V>A No ClinGen
ExAC
gnomAD
rs1390920626
CA414849870
656 V>L No ClinGen
gnomAD
rs745923572
CA10574887
657 H>R No ClinGen
ExAC
gnomAD
rs781158387
CA10574886
661 F>L No ClinGen
ExAC
gnomAD
rs1201540443
CA414849785
662 I>V No ClinGen
gnomAD
rs1426466778
CA414849698
668 R>Q No ClinGen
gnomAD
CA10574885
rs757411182
669 R>C No ClinGen
ExAC
gnomAD
CA10574877
rs377092542
679 V>I No ClinGen
ESP
ExAC
gnomAD
rs1469317416
CA414849531
681 E>Q No ClinGen
gnomAD
rs774135485
CA10574876
683 E>D No ClinGen
ExAC
gnomAD
CA414849492
rs1460408001
684 R>Q No ClinGen
gnomAD
rs768437804
CA10574874
690 L>F No ClinGen
ExAC
gnomAD
CA10574873
rs763346143
705 F>L No ClinGen
ExAC
gnomAD
rs1182622590
CA414849201
710 A>T No ClinGen
gnomAD
rs776031237
CA10574872
713 D>N No ClinGen
ExAC
gnomAD
rs1264465071
CA414849124
716 D>G No ClinGen
gnomAD
rs938158701
CA337440268
COSM3391915
725 N>S pancreas [Cosmic] No ClinGen
cosmic curated
Ensembl
rs746341780
CA10574870
732 S>G No ClinGen
ExAC
gnomAD
rs781740926
CA10574869
732 S>R No ClinGen
ExAC
gnomAD
CA414848869
rs1569363348
738 R>Q No ClinGen
Ensembl
rs1395746660
CA414848825
740 R>Q No ClinGen
gnomAD
rs1383172771
CA414848651
756 R>Q No ClinGen
gnomAD
rs544669203
CA10574863
762 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs544669203
CA10574862
762 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA414848555
rs1238692765
765 N>D No ClinGen
gnomAD
rs755984781
CA10574861
768 R>Q No ClinGen
ExAC
CA414848401
rs1250382118
777 R>H No ClinGen
gnomAD
rs1603545779
CA414848267
787 L>M No ClinGen
Ensembl
CA10574849
rs771480596
792 R>H No ClinGen
ExAC
gnomAD
CA10574848
rs747021428
795 R>S No ClinGen
ExAC
gnomAD
rs772231807
CA10574845
802 L>H No ClinGen
ExAC
gnomAD
CA10574844
rs748348134
804 R>* No ClinGen
ExAC
gnomAD
rs778452697
CA10574842
812 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA414847928
rs1222276999
818 Q>* No ClinGen
gnomAD
CA10574840
rs780925672
828 A>G No ClinGen
ExAC
gnomAD
CA10574835
rs752283213
835 L>Q No ClinGen
ExAC
gnomAD
rs764993727
CA10574834
841 R>Q No ClinGen
ExAC
gnomAD
rs1315713234
CA414847717
848 G>S No ClinGen
gnomAD
CA10574833
rs759759371
848 G>V No ClinGen
ExAC
gnomAD
rs1603545733
CA414847674
854 M>I No ClinGen
Ensembl
rs766830155
CA10574831
854 M>L No ClinGen
ExAC
gnomAD
rs761191128
CA10574830
856 Q>H No ClinGen
ExAC
gnomAD
CA414847654
rs1427862909
857 I>T No ClinGen
gnomAD
rs1478528734
CA414847625
861 K>N No ClinGen
gnomAD
rs1199364235
CA414847627
861 K>R No ClinGen
gnomAD
rs1190780635
CA414847544
868 E>Q No ClinGen
gnomAD
rs770902573
CA10574822
869 A>T No ClinGen
ExAC
gnomAD
rs1242611146
CA414847460
875 R>C No ClinGen
gnomAD
rs777929353
CA10574820
878 L>M No ClinGen
ExAC
gnomAD
rs777929353
CA10574821
878 L>V No ClinGen
ExAC
gnomAD
CA337440017
rs1031595391
879 A>V No ClinGen
Ensembl
CA414847348
rs1313936262
884 S>R No ClinGen
gnomAD
rs1213816138
CA414847291
889 R>Q No ClinGen
gnomAD
rs757964688
CA10574819
889 R>W No ClinGen
ExAC
gnomAD
CA10574818
rs752261194
890 S>F No ClinGen
ExAC
gnomAD
rs1299294064
CA414847228
894 R>S No ClinGen
gnomAD
CA10574816
rs754688597
902 V>A No ClinGen
ExAC
gnomAD
rs1414726919
CA414847016
910 Q>H No ClinGen
Ensembl
CA10574815
rs373422020
910 Q>L No ClinGen
ESP
ExAC
gnomAD
CA10574814
rs766705675
911 Q>K No ClinGen
ExAC
gnomAD
CA414846933
rs1361452542
916 Q>R No ClinGen
gnomAD
rs1409704100
CA414846832
925 L>P No ClinGen
gnomAD
CA10574811
rs768026210
926 A>S No ClinGen
ExAC
gnomAD
rs866052642
CA337440005
926 A>V No ClinGen
Ensembl
CA10574810
rs761733755
932 G>D No ClinGen
ExAC
gnomAD
rs1443079914
CA414846704
937 M>L No ClinGen
gnomAD
rs774523231
CA10574809
948 A>P No ClinGen
ExAC
gnomAD
rs774523231
CA414846571
948 A>T No ClinGen
ExAC
gnomAD
CA337440001
rs765530292
950 S>G No ClinGen
1000Genomes
CA10574808
rs768714690
957 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 962 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1683052
CA10574804
rs746855060
969 R>C skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA414846368
rs1276596263
969 R>H No ClinGen
gnomAD
CA10574803
rs777792467
972 E>K No ClinGen
ExAC
gnomAD
rs1358347504
CA414846307
975 H>R No ClinGen
gnomAD
CA10574797
rs779748723
984 H>L No ClinGen
ExAC
CA10574796
rs779748723
984 H>P No ClinGen
ExAC
rs767973344
CA10574793
986 P>A No ClinGen
ExAC
gnomAD
CA10574792
rs762407272
994 R>H No ClinGen
ExAC
gnomAD
rs752058053
CA10574791
1025 E>A No ClinGen
ExAC
gnomAD
CA10574782
rs748094399
1032 Y>H No ClinGen
ExAC
gnomAD
CA10574781
rs774193762
1036 D>G No ClinGen
ExAC
gnomAD
CA337439914
rs868449081
1039 E>G No ClinGen
Ensembl
rs768207252
CA10574780
1046 R>Q No ClinGen
ExAC
gnomAD
rs1484720528
CA414845225
1057 Q>E No ClinGen
gnomAD
rs1259604290
CA414845136
1064 T>A No ClinGen
gnomAD
CA10574779
rs748855039
1072 A>T No ClinGen
ExAC
gnomAD
rs779615383
CA10574778
1078 K>R No ClinGen
ExAC
gnomAD
CA414844861
rs1270524064
1084 T>A No ClinGen
gnomAD
CA10574777
rs755795687
1086 L>V No ClinGen
ExAC
gnomAD
CA414844755
rs1603545710
1091 P>Q No ClinGen
Ensembl
CA414844705
rs1260554707
1095 A>T No ClinGen
gnomAD
rs35247789
CA10574767
1099 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA10574765
rs761578749
1100 T>P No ClinGen
ExAC
gnomAD
rs774331690
CA10574764
1102 R>H No ClinGen
ExAC
gnomAD
CA337439886
rs202137598
1104 R>Q No ClinGen
Ensembl
COSM1737443
rs768481960
CA10574763
1109 A>V central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs775005055
CA10574761
1114 Q>H No ClinGen
ExAC
gnomAD
rs769345125
CA10574760
1115 C>Y No ClinGen
ExAC
gnomAD
CA337439881
rs963453320
1121 G>R No ClinGen
gnomAD
CA10574758
rs764239225
1129 D>N No ClinGen
ExAC
gnomAD
rs1258924572
CA414844261
1131 G>S No ClinGen
Ensembl
rs1202723144
CA414844197
1134 I>T No ClinGen
gnomAD
rs754107673
CA10574750
1137 F>L No ClinGen
ExAC
gnomAD
CA414844153
rs1229398035
1138 K>N No ClinGen
gnomAD
CA414844088
rs1312968356
1146 E>A No ClinGen
gnomAD
CA10574749
rs766567095
1147 G>D No ClinGen
ExAC
CA414844077
rs1244103713
1148 I>V No ClinGen
gnomAD
CA10574748
rs761610918
1152 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1336027684
CA414844046
1153 R>C No ClinGen
gnomAD
rs1448317143
CA414844042
1153 R>L No ClinGen
gnomAD
rs1369711588
CA414844003
1157 A>G No ClinGen
gnomAD
rs1431221988
CA414843984
1159 P>S No ClinGen
gnomAD
rs1363287921
CA414843954
1161 P>L No ClinGen
gnomAD
CA414843953
rs1603545701
1162 L>M No ClinGen
Ensembl
rs764045028
CA10574746
1162 L>Q No ClinGen
ExAC
gnomAD
CA414843881
rs1472808224
1169 S>P No ClinGen
gnomAD
rs1603545697
CA414843836
1173 S>C No ClinGen
Ensembl
CA414843823
rs1190219102
1174 I>M No ClinGen
gnomAD
rs1471932443
CA414843762
1180 V>L No ClinGen
gnomAD
rs1251521594
CA414843736
1183 G>R No ClinGen
gnomAD
CA337439876
rs1050807
VAR_032991
1186 V>L No ClinGen
UniProt
Ensembl
dbSNP
rs1035593148
CA337439874
1193 Q>L No ClinGen
Ensembl
rs565630460
CA10574742
1217 S>P No ClinGen
ExAC
gnomAD
rs1357058616
CA414843248
1226 D>N No ClinGen
gnomAD
CA10574739
rs770490752
1236 R>H No ClinGen
ExAC
gnomAD
CA10574738
rs373978184
1238 R>Q No ClinGen
ESP
ExAC
gnomAD
rs778017625
CA10574737
1245 I>V No ClinGen
ExAC
gnomAD
CA337439864
rs866336746
1256 P>S No ClinGen
Ensembl
CA10574734
rs779628367
1257 V>L No ClinGen
ExAC
gnomAD
CA414842950
rs779628367
1257 V>M No ClinGen
ExAC
gnomAD
CA414842941
rs1456079779
1258 R>Q No ClinGen
gnomAD
CA414842942
rs1276230357
1258 R>W No ClinGen
Ensembl
CA414842751
rs1411817412
1275 W>* No ClinGen
gnomAD
CA10574733
rs755094195
1278 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414842708
rs1473741747
1278 R>H No ClinGen
gnomAD
CA337439860
rs747615980
1282 A>T No ClinGen
1000Genomes
CA414842664
rs1245347700
1282 A>V No ClinGen
gnomAD
CA337439858
rs1050808
1285 S>F No ClinGen
Ensembl
rs753877149
CA10574732
1286 E>G No ClinGen
ExAC
gnomAD
rs780282455
CA10574731
1289 T>S No ClinGen
ExAC
gnomAD
CA414842566
rs1203425230
1293 R>G No ClinGen
gnomAD
rs367572296
CA10574730
1293 R>Q No ClinGen
ESP
ExAC
gnomAD
rs750708901
CA10574729
1299 R>C No ClinGen
ExAC
gnomAD
CA414842497
rs1230157091
1299 R>H No ClinGen
gnomAD
CA414842486
rs763763717
1300 Q>P No ClinGen
ExAC
gnomAD
CA10574728
rs763763717
1300 Q>R No ClinGen
ExAC
gnomAD
rs1459345858
CA414842327
1315 T>I No ClinGen
gnomAD
rs1423488604
CA414842309
1318 T>I No ClinGen
gnomAD
rs776040782
CA10574722
1323 I>V No ClinGen
ExAC
gnomAD
CA414842235
rs1248622510
1326 G>D No ClinGen
gnomAD
CA10574710
rs781449106
1341 G>E No ClinGen
ExAC
gnomAD
CA414841999
rs1166945534
1344 V>M No ClinGen
gnomAD
rs1449158190
CA414841961
1347 P>L No ClinGen
gnomAD
CA414841931
rs1390845365
1350 M>V No ClinGen
gnomAD
rs1190646379
CA414841909
1351 A>V No ClinGen
gnomAD
rs370740347
CA10574704
1359 E>D No ClinGen
ESP
ExAC
gnomAD
CA10574705
rs753866467
1359 E>Q No ClinGen
ExAC
gnomAD
CA414841646
rs1393759714
1374 E>K No ClinGen
Ensembl
rs750481044
CA10574702
1382 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1422069481
CA414841559
1383 L>M No ClinGen
gnomAD
rs767292584
CA10574701
1387 M>V No ClinGen
ExAC
gnomAD
rs762202481
CA10574700
1388 M>I No ClinGen
ExAC
gnomAD
CA414841492
rs1182368335
1388 M>T No ClinGen
gnomAD
TCGA novel 1394 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769191548
CA10574698
1403 I>V No ClinGen
ExAC
gnomAD
CA10574696
rs776130195
1409 A>S No ClinGen
ExAC
gnomAD
rs745970329
CA10574694
1413 P>L No ClinGen
ExAC
gnomAD
rs377408982
COSM1470013
CA337439815
1419 R>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
CA337439809
rs369953595
1430 Q>H No ClinGen
Ensembl
CA10574680
rs369468904
1433 R>G No ClinGen
ESP
ExAC
gnomAD
CA10574679
rs763431050
1433 R>Q No ClinGen
ExAC
gnomAD
CA10574678
rs201122015
1436 S>I No ClinGen
ExAC
gnomAD
CA10574677
rs770335987
1437 R>Q No ClinGen
ExAC
gnomAD
CA414840904
rs1266713139
1437 R>W No ClinGen
gnomAD
CA10574676
COSM1470012
rs745892280
1442 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10574675
rs776718151
1444 R>W No ClinGen
ExAC
gnomAD
CA10574674
rs771050756
1445 R>Q No ClinGen
ExAC
gnomAD
CA414840831
rs1367216953
1445 R>W No ClinGen
gnomAD
rs1386551959
CA414840748
1452 R>K No ClinGen
gnomAD
rs1158331588
CA414840729
1453 N>K No ClinGen
gnomAD
CA10574672
rs778039265
1454 V>A No ClinGen
ExAC
gnomAD
rs1413878334
CA414840650
1460 Q>R No ClinGen
gnomAD
rs1603545676
CA414840628
1462 L>F No ClinGen
Ensembl
CA10574671
rs374766772
1464 S>* No ClinGen
ESP
ExAC
CA337439803
rs974845953
1468 R>W No ClinGen
Ensembl
rs756107992
CA10574668
1478 R>* No ClinGen
ExAC
gnomAD
rs35681523
CA10574667
1478 R>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA10574666
rs767104385
1479 E>D No ClinGen
ExAC
gnomAD
rs767405452
CA10574665
1482 H>R No ClinGen
1000Genomes
ExAC
gnomAD
rs751241980
CA337439801
1488 D>E No ClinGen
ExAC
gnomAD
CA10574663
rs763818200
1489 R>C No ClinGen
ExAC
gnomAD
rs763157175
CA10574662
1489 R>H No ClinGen
ExAC
gnomAD
CA337439798
rs11549043
1499 D>Y No ClinGen
Ensembl
CA414840197
rs1311997092
1500 H>R No ClinGen
gnomAD
rs753133666
CA10574661
1508 Q>K No ClinGen
ExAC
gnomAD
CA10574659
rs760018135
1523 P>H No ClinGen
ExAC
gnomAD
rs1387001796
CA414839829
1531 L>F No ClinGen
gnomAD
CA337439794
rs369802892
1533 Y>H No ClinGen
ESP
rs776437349
CA10574658
1538 Q>H No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with Q9BY66

10 regional properties for Q9BY66

Type Name Position InterPro Accession
domain Zinc finger, PHD-type 731 - 789 IPR001965-1
domain Zinc finger, PHD-type 851 - 907 IPR001965-2
domain Tudor domain 917 - 974 IPR002999-1
domain Tudor domain 975 - 1031 IPR002999-2
domain JmjC domain 143 - 309 IPR003347
domain JmjN domain 14 - 57 IPR003349
domain Extended PHD (ePHD) domain 794 - 907 IPR034732
domain Lysine-specific demethylase 4-like, Tudor domain 922 - 956 IPR040477-1
domain Lysine-specific demethylase 4-like, Tudor domain 980 - 1014 IPR040477-2
domain Lysine-specific demethylase 4B, first Tudor domain 919 - 972 IPR047483

Functions

Description
EC Number 1.14.11.67 With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
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
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 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).
histone demethylase activity Catalysis of the removal of a methyl group from a histone.
histone H3-methyl-lysine-4 demethylase activity Catalysis of the removal of a methyl group from a modified lysine residue at position 4 of the histone H3 protein.
histone H3-tri/di/monomethyl-lysine-4 demethylase activity Catalysis of the removal of a methyl group from a tri, a di or a monomethyl-lysine residue at position 4 of the histone H3 protein. This is a dioxygenase reaction that is dependent on Fe(II) and 2-oxoglutarate.
metal ion binding Binding to a metal ion.
nuclear androgen receptor binding Binding to a nuclear androgen receptor.

4 GO annotations of biological process

Name Definition
chromatin remodeling A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
histone H3-K4 demethylation The modification of histone H3 by the removal of a methyl group from lysine at position 4 of the histone.
regulation of androgen receptor signaling pathway Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway.
T cell antigen processing and presentation The process in which a T cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O94953 KDM4B Lysine-specific demethylase 4B Homo sapiens (Human) PR
O75164 KDM4A Lysine-specific demethylase 4A Homo sapiens (Human) PR
Q62240 Kdm5d Lysine-specific demethylase 5D Mus musculus (Mouse) PR
10 20 30 40 50 60
MEPGCDEFLP PPECPVFEPS WAEFQDPLGY IAKIRPIAEK SGICKIRPPA DWQPPFAVEV
70 80 90 100 110 120
DNFRFTPRVQ RLNELEAQTR VKLNYLDQIA KFWEIQGSSL KIPNVERKIL DLYSLSKIVI
130 140 150 160 170 180
EEGGYEAICK DRRWARVAQR LHYPPGKNIG SLLRSHYERI IYPYEMFQSG ANHVQCNTHP
190 200 210 220 230 240
FDNEVKDKEY KPHSIPLRQS VQPSKFSSYS RRAKRLQPDP EPTEEDIEKH PELKKLQIYG
250 260 270 280 290 300
PGPKMMGLGL MAKDKDKTVH KKVTCPPTVT VKDEQSGGGN VSSTLLKQHL SLEPCTKTTM
310 320 330 340 350 360
QLRKNHSSAQ FIDSYICQVC SRGDEDDKLL FCDGCDDNYH IFCLLPPLPE IPRGIWRCPK
370 380 390 400 410 420
CILAECKQPP EAFGFEQATQ EYSLQSFGEM ADSFKSDYFN MPVHMVPTEL VEKEFWRLVS
430 440 450 460 470 480
SIEEDVTVEY GADIHSKEFG SGFPVSNSKQ NLSPEEKEYA TSGWNLNVMP VLDQSVLCHI
490 500 510 520 530 540
NADISGMKVP WLYVGMVFSA FCWHIEDHWS YSINYLHWGE PKTWYGVPSL AAEHLEEVMK
550 560 570 580 590 600
MLTPELFDSQ PDLLHQLVTL MNPNTLMSHG VPVVRTNQCA GEFVITFPRA YHSGFNQGYN
610 620 630 640 650 660
FAEAVNFCTA DWLPAGRQCI EHYRRLRRYC VFSHEELICK MAAFPETLDL NLAVAVHKEM
670 680 690 700 710 720
FIMVQEERRL RKALLEKGVT EAEREAFELL PDDERQCIKC KTTCFLSALA CYDCPDGLVC
730 740 750 760 770 780
LSHINDLCKC SSSRQYLRYR YTLDELPTML HKLKIRAESF DTWANKVRVA LEVEDGRKRS
790 800 810 820 830 840
FEELRALESE ARERRFPNSE LLQRLKNCLS EVEACIAQVL GLVSGQVARM DTPQLTLTEL
850 860 870 880 890 900
RVLLEQMGSL PCAMHQIGDV KDVLEQVEAY QAEAREALAT LPSSPGLLRS LLERGQQLGV
910 920 930 940 950 960
EVPEAHQLQQ QVEQAQWLDE VKQALAPSAH RGSLVIMQGL LVMGAKIASS PSVDKARAEL
970 980 990 1000 1010 1020
QELLTIAERW EEKAHFCLEA RQKHPPATLE AIIRETENIP VHLPNIQALK EALTKAQAWI
1030 1040 1050 1060 1070 1080
ADVDEIQNGD HYPCLDDLEG LVAVGRDLPV GLEELRQLEL QVLTAHSWRE KASKTFLKKN
1090 1100 1110 1120 1130 1140
SCYTLLEVLC PCADAGSDST KRSRWMEKAL GLYQCDTELL GLSAQDLRDP GSVIVAFKEG
1150 1160 1170 1180 1190 1200
EQKEKEGILQ LRRTNSAKPS PLAPSLMASS PTSICVCGQV PAGVGVLQCD LCQDWFHGQC
1210 1220 1230 1240 1250 1260
VSVPHLLTSP KPSLTSSPLL AWWEWDTKFL CPLCMRSRRP RLETILALLV ALQRLPVRLP
1270 1280 1290 1300 1310 1320
EGEALQCLTE RAIGWQDRAR KALASEDVTA LLRQLAELRQ QLQAKPRPEE ASVYTSATAC
1330 1340 1350 1360 1370 1380
DPIREGSGNN ISKVQGLLEN GDSVTSPENM APGKGSDLEL LSSLLPQLTG PVLELPEAIR
1390 1400 1410 1420 1430 1440
APLEELMMEG DLLEVTLDEN HSIWQLLQAG QPPDLDRIRT LLELEKFEHQ GSRTRSRALE
1450 1460 1470 1480 1490 1500
RRRRRQKVDQ GRNVENLVQQ ELQSKRARSS GIMSQVGREE EHYQEKADRE NMFLTPSTDH
1510 1520 1530
SPFLKGNQNS LQHKDSGSSA ACPSLMPLLQ LSYSDEQQL