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

4 structures for Q9Y232

Entry ID Method Resolution Chain Position Source
2DNT NMR - A 63-119 PDB
2GTR X-ray 190 A A/B/C 338-598 PDB
7N27 X-ray 185 A A/B/C/D/E/F 62-113 PDB
AF-Q9Y232-F1 Predicted AlphaFoldDB

380 variants for Q9Y232

Variant ID(s) Position Change Description Diseaes Association Provenance
CA3622425
VAR_032936
rs3812179
2 T>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs753465732
CA3622426
2 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA362637793
rs3812179
2 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3812179
CA362637794
2 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3622428
rs764688356
4 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA3622429
rs752130129
5 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA3622431
rs781624523
7 H>R No ClinGen
ExAC
gnomAD
CA3622430
COSM3949285
rs148239840
7 H>Y lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
VAR_032937
CA3622432
rs3812178
9 S>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3812178
CA362637838
9 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA134200520
rs969199144
10 A>P No ClinGen
gnomAD
rs778194226
CA3622434
11 W>* No ClinGen
ExAC
CA3622433
rs756536468
11 W>* No ClinGen
ExAC
gnomAD
rs756536468
CA362637852
11 W>L No ClinGen
ExAC
gnomAD
rs1219867736
CA362637849
11 W>R No ClinGen
gnomAD
CA134200525
rs371683698
12 G>E No ClinGen
ESP
TOPMed
gnomAD
CA362637855
rs1582271866
12 G>R No ClinGen
Ensembl
CA3622435
rs749493194
13 K>I No ClinGen
ExAC
gnomAD
CA362637864
rs749493194
13 K>R No ClinGen
ExAC
gnomAD
TCGA novel 14 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 14 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779073346
CA3622438
17 K>* No ClinGen
ExAC
gnomAD
CA362637892
rs1561819738
17 K>T No ClinGen
Ensembl
TCGA novel
CA362637900
rs1408669280
18 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA362637912
rs1162407948
19 W>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA134200535
rs749250122
19 W>L No ClinGen
Ensembl
CA362637915
rs1351446666
20 Q>* No ClinGen
gnomAD
rs146548277
CA3622439
21 Y>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148796217
CA134200540
22 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746826274
CA3622442
22 E>D No ClinGen
ExAC
gnomAD
rs148796217
CA3622441
22 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3622443
rs573907785
23 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs776296290
CA3622444
25 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs764741482
CA3622446
26 Q>* No ClinGen
ExAC
rs142478254
CA3622448
27 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362637967
rs1582271964
28 L>* No ClinGen
Ensembl
rs1455117441
TCGA novel
CA362637971
29 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
NCI-TCGA
CA362637981
rs1257035146
30 L>P No ClinGen
gnomAD
rs753228046
CA3622450
31 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA134200556
rs571956532
32 R>I No ClinGen
ExAC
gnomAD
CA3622451
rs571956532
32 R>T No ClinGen
ExAC
gnomAD
rs542544380
CA3622452
33 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1205442663
CA362637997
33 N>S No ClinGen
TOPMed
CA3622453
rs754122072
34 N>T No ClinGen
ExAC
gnomAD
rs372317441
CA3622455
35 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1376616410
CA362638022
36 S>T No ClinGen
gnomAD
CA134205234
rs905054750
37 A>V No ClinGen
Ensembl
rs140565156
CA3622474
39 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1315621398
CA362638055
41 P>H No ClinGen
TOPMed
rs758036367
CA134205236
42 S>P No ClinGen
Ensembl
rs1582294085
CA362638066
43 D>A No ClinGen
Ensembl
rs1296703993
CA362638081
45 S>T No ClinGen
gnomAD
rs757680739
CA3622475
46 I>V No ClinGen
ExAC
gnomAD
TCGA novel 47 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs13196069
VAR_032938
CA3622479
48 V>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3622478
rs750626007
48 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362638112
rs1280593516
50 S>N No ClinGen
TOPMed
gnomAD
rs1348481331
CA362638117
51 E>K No ClinGen
TOPMed
gnomAD
rs751512230
CA3622481
52 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 52 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 53 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM596823
CA3622484
rs375915779
54 G>R lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3622486
rs777334119
55 A>V No ClinGen
ExAC
gnomAD
rs965102780
CA134205238
58 P>S No ClinGen
TOPMed
CA362638173
rs1561830267
59 P>S No ClinGen
Ensembl
VAR_032939
CA3622490
rs28360500
60 A>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3622489
rs773840585
60 A>T No ClinGen
ExAC
gnomAD
rs777252998
CA3622492
62 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA3622491
rs769340906
62 Q>R No ClinGen
ExAC
gnomAD
CA362654020
rs1373358695
63 V>I No ClinGen
gnomAD
CA3622528
rs778746146
64 E>D No ClinGen
ExAC
gnomAD
rs538333704
CA133860329
65 R>K No ClinGen
Ensembl
rs1383897072
CA362654384
73 K>N No ClinGen
TOPMed
CA362654378
rs1400344750
73 K>R No ClinGen
TOPMed
rs1561689754
CA362654405
74 K>R No ClinGen
Ensembl
CA362654420
rs1156650190
75 G>R No ClinGen
TOPMed
TCGA novel 76 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1080046
rs1186573267
CA362654583
82 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA133860336
rs930012575
87 D>A No ClinGen
TOPMed
rs770399503
CA3622533
88 S>I No ClinGen
ExAC
gnomAD
rs770399503
CA362654687
88 S>T No ClinGen
ExAC
gnomAD
rs377393556
CA3622537
91 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145622412
CA3622541
100 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs764138201
CA3622542
104 E>A No ClinGen
ExAC
gnomAD
TCGA novel 104 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362654852
rs1331209220
106 I>M No ClinGen
TOPMed
gnomAD
CA362654848
rs1441777102
106 I>V No ClinGen
gnomAD
rs61749071
CA133860342
107 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146246309
CA3622545
108 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs954380105
CA133860346
110 N>S No ClinGen
Ensembl
CA3622546
rs200651601
112 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200111001
CA3622547
112 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200111001
CA133860348
112 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779849243
CA3622548
114 T>A No ClinGen
ExAC
gnomAD
rs766462758
COSM1284064
CA3622549
114 T>M Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1213745803
CA362654961
116 K>E No ClinGen
gnomAD
rs370917045
CA3622551
118 K>N No ClinGen
ESP
ExAC
gnomAD
CA133860352
rs113031834
120 S>G No ClinGen
Ensembl
CA362655050
rs1479614446
121 T>A No ClinGen
TOPMed
gnomAD
CA362655053
rs1479614446
121 T>P No ClinGen
TOPMed
gnomAD
rs554548467
CA3622554
122 L>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775548129
CA3622557
127 R>G No ClinGen
ExAC
gnomAD
CA362655155
rs1170021646
127 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA362655161
rs1398289550
127 R>S No ClinGen
gnomAD
CA3622558
rs760861481
128 T>N No ClinGen
ExAC
gnomAD
rs776663806
CA3622561
132 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA3622560
rs776663806
132 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs765139049
CA3622563
CA3622562
134 R>S No ClinGen
ExAC
gnomAD
rs200764082
CA133860359
137 I>M No ClinGen
Ensembl
CA3622564
rs762836740
141 T>S No ClinGen
ExAC
CA362655393
rs1233592554
143 S>G No ClinGen
gnomAD
rs1305270612
CA362655418
144 N>S No ClinGen
TOPMed
gnomAD
rs751147723
CA3622566
145 F>S No ClinGen
ExAC
gnomAD
CA362655430
rs1300031654
145 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs754537308
CA3622567
146 S>C No ClinGen
ExAC
gnomAD
TCGA novel 146 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133860362
rs985994885
148 T>A No ClinGen
TOPMed
CA362655496
rs1185502005
150 P>S No ClinGen
TOPMed
gnomAD
rs780525041
CA3622568
151 K>E No ClinGen
ExAC
gnomAD
CA362655539
rs1475656585
152 A>V No ClinGen
gnomAD
rs1561690034
CA362655548
154 V>E No ClinGen
Ensembl
CA362655546
rs757700421
CA362655547
154 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs757700421
CA3622570
154 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3622571
rs779392958
156 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1351617758
CA362655558
156 G>R No ClinGen
TOPMed
rs367701620
CA133860367
157 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367701620
CA3622573
157 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780347868
CA3622574
157 K>R No ClinGen
ExAC
gnomAD
CA362655570
rs768787781
158 D>A No ClinGen
ExAC
gnomAD
CA3622576
rs768787781
158 D>G No ClinGen
ExAC
gnomAD
CA133860370
rs906767899
158 D>N No ClinGen
Ensembl
TCGA novel 158 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1414956038
CA362655575
159 H>D No ClinGen
gnomAD
rs370862716
CA3622578
CA362655580
159 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3622579
rs769918692
160 E>A No ClinGen
ExAC
gnomAD
CA133860372
rs976298118
160 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1273157635
CA362655592
161 S>F No ClinGen
gnomAD
rs1394841057
CA362655589
161 S>T No ClinGen
TOPMed
rs1489735852
CA362655594
162 K>E No ClinGen
TOPMed
CA362655604
rs1581240010
163 N>T No ClinGen
Ensembl
CA362655610
rs1282186180
164 S>G No ClinGen
gnomAD
CA3622583
rs766037143
165 Q>R No ClinGen
ExAC
rs751253394
CA3622584
166 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1240616049
CA362655652
170 S>T No ClinGen
gnomAD
CA362655657
rs1476539182
171 Q>E No ClinGen
gnomAD
rs1187147858
CA362655678
173 F>L No ClinGen
gnomAD
CA3622585
rs759040134
174 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs200953580
CA133860379
176 N>D No ClinGen
1000Genomes
TOPMed
rs752257604
CA362655697
176 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs752257604
CA3622587
176 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA3622588
rs755595055
177 T>I No ClinGen
ExAC
gnomAD
rs895253776
CA133860381
178 A>V No ClinGen
Ensembl
CA362655715
rs1561690221
179 P>L No ClinGen
Ensembl
rs1021491896
CA362655722
181 L>F No ClinGen
gnomAD
rs1021491896
CA133860384
181 L>V No ClinGen
gnomAD
rs758795798
CA3622592
184 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA3622591
rs758795798
184 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3622590
rs374024219
184 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1270178655
CA362655765
187 M>T No ClinGen
Ensembl
CA3622593
rs747269304
189 L>Q No ClinGen
ExAC
gnomAD
CA362655782
rs1250460107
190 A>T No ClinGen
gnomAD
CA362655787
rs1429990315
190 A>V No ClinGen
TOPMed
CA362655800
rs1238255830
192 S>L No ClinGen
gnomAD
rs139710301
CA3622595
192 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3622597
rs769971723
194 I>T No ClinGen
ExAC
gnomAD
CA362656226
rs1561690299
196 I>V No ClinGen
Ensembl
CA362656249
rs1460440367
198 V>M No ClinGen
gnomAD
rs1246141238
CA362656290
201 S>G No ClinGen
gnomAD
CA3622599
rs367906819
201 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3622602
rs371998448
203 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371998448
CA3622603
203 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1439674505
CA362656332
204 K>T No ClinGen
gnomAD
CA3622606
rs760203897
207 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs748320096
CA362656389
208 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA3622608
rs748320096
208 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3622610
rs766896693
210 D>G No ClinGen
ExAC
gnomAD
rs755337916
CA3622612
211 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs573123342
CA3622614
COSM3353860
215 E>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756291337
CA3622615
217 P>H No ClinGen
ExAC
gnomAD
CA3622616
rs376981385
219 K>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1080048
rs770828221
CA3622618
223 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770828221
CA362656587
223 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA362656603
rs771854902
CA362656602
224 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA3622620
rs147719814
224 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA133860405
rs147719814
224 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3622624
rs368633486
229 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3622625
rs776179242
230 T>P No ClinGen
ExAC
gnomAD
rs761383706
CA3622626
232 A>T No ClinGen
ExAC
rs766835823
CA3622627
233 P>S No ClinGen
ExAC
gnomAD
CA3622628
rs141221618
234 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3622629
rs141221618
234 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767953130
CA3622630
235 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA3622631
rs372736124
236 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756344276
CA3622632
237 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs548377074
CA3622633
237 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1332916350
CA362656687
238 E>G No ClinGen
gnomAD
CA3622634
rs145170473
240 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362656708
rs1581240349
241 V>G No ClinGen
Ensembl
CA3622637
COSM1080049
rs150926278
242 G>R endometrium Variant assessed as Somatic; 0.0002311 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
gnomAD
CA3622641
rs768365537
246 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA362656745
rs1417864494
248 G>S No ClinGen
TOPMed
gnomAD
CA3622644
rs769298744
COSM1200632
249 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3622646
rs372980060
250 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362656767
rs1483553358
251 R>K No ClinGen
gnomAD
rs1483553358
CA362656765
251 R>M No ClinGen
gnomAD
rs1312045097
CA362656788
254 M>I No ClinGen
gnomAD
rs768004472
CA3622647
254 M>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 256 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362656820
rs1561690560
259 R>K No ClinGen
Ensembl
CA362656829
rs1353394685
260 I>T No ClinGen
TOPMed
gnomAD
CA362656847
rs1416794557
263 L>V No ClinGen
TOPMed
gnomAD
CA362656854
rs1225365201
264 V>A No ClinGen
gnomAD
CA3622648
rs753167622
264 V>L No ClinGen
ExAC
gnomAD
CA133860422
rs1008812563
265 P>S No ClinGen
TOPMed
gnomAD
CA3622650
rs764448188
266 Q>R No ClinGen
ExAC
gnomAD
CA3622651
rs754045685
267 V>L No ClinGen
ExAC
gnomAD
CA362656869
rs754045685
267 V>M No ClinGen
ExAC
gnomAD
rs778986943
CA3622653
269 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA362656888
rs758389859
270 P>L No ClinGen
ExAC
gnomAD
rs758389859
CA3622655
270 P>R No ClinGen
ExAC
gnomAD
CA3622656
rs375314618
272 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362656905
rs1209217749
273 A>V No ClinGen
TOPMed
CA362656906
rs1263161789
274 A>T No ClinGen
TOPMed
CA3622659
rs780729401
275 M>T No ClinGen
ExAC
gnomAD
rs199558668
CA3622658
275 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362656928
rs1436393658
277 T>K No ClinGen
gnomAD
CA133860431
rs142838178
278 G>D No ClinGen
ESP
TOPMed
CA133860429
rs552358447
278 G>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA362656944
rs1225768182
280 A>S No ClinGen
TOPMed
rs747795630
CA3622660
281 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs747795630
CA362656948
281 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs369374629
CA3622662
COSM1173240
283 G>R oesophagus Variant assessed as Somatic; 4.792e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA3622685
rs376206066
288 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3622687
rs770647906
289 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA3622688
rs762081301
290 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA362647666
rs1581277261
293 L>* No ClinGen
Ensembl
rs371162404
CA3622690
294 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371162404
CA3622689
294 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA133861972
rs373375953
295 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3622691
rs373375953
295 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3622692
rs746042185
296 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs751502269
CA3622693
300 N>K No ClinGen
ExAC
gnomAD
rs1581277309
CA362647781
300 N>S No ClinGen
Ensembl
CA362647809
rs1162873403
302 Q>L No ClinGen
gnomAD
rs1402495622
CA362647824
303 T>I No ClinGen
TOPMed
rs1396854076
CA362647816
303 T>P No ClinGen
gnomAD
CA3622694
rs754850622
304 S>C No ClinGen
ExAC
gnomAD
rs1298110513
CA362647864
306 T>A No ClinGen
gnomAD
CA3622695
rs767342622
306 T>K No ClinGen
ExAC
gnomAD
rs1157881555
CA362647918
310 A>T No ClinGen
TOPMed
rs1009337706
CA133861989
310 A>V No ClinGen
Ensembl
CA3622697
rs755831522
311 S>N No ClinGen
ExAC
gnomAD
CA3622698
rs777526567
311 S>R No ClinGen
ExAC
gnomAD
CA362647967
rs1477181277
314 K>R No ClinGen
TOPMed
gnomAD
CA3622699
rs748913405
315 F>L No ClinGen
ExAC
gnomAD
rs756836897
CA3622700
315 F>Y No ClinGen
ExAC
gnomAD
CA133862003
rs772165220
316 I>V No ClinGen
Ensembl
CA3622701
rs778511112
317 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA3622703
rs769274205
318 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA362648030
rs1479641505
319 R>G No ClinGen
TOPMed
gnomAD
CA362648034
rs1425976374
319 R>K No ClinGen
gnomAD
CA362648039
rs1581277406
320 R>G No ClinGen
Ensembl
CA362648051
rs1178705946
321 D>N No ClinGen
gnomAD
CA3622704
rs776974579
323 P>L No ClinGen
ExAC
gnomAD
rs1475001236
CA362648159
326 K>E No ClinGen
gnomAD
TCGA novel 327 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 329 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1207056666
CA362648244
332 V>L No ClinGen
TOPMed
rs773452834
CA3622708
333 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA133862017
rs1044448885
344 I>T No ClinGen
TOPMed
gnomAD
CA133862015
rs368087602
344 I>V No ClinGen
ESP
gnomAD
rs1449598953
CA362648531
350 D>E No ClinGen
TOPMed
CA133862023
rs765624666
354 H>Y No ClinGen
Ensembl
CA362648766
rs1455305270
369 P>A No ClinGen
TOPMed
TCGA novel 377 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3622738
rs148330526
381 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778247904
CA3622742
383 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 384 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362649149
rs1342878630
385 D>N No ClinGen
TOPMed
gnomAD
rs150826447
CA3622746
394 A>T No ClinGen
ESP
ExAC
gnomAD
TCGA novel 394 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145710209
CA3622749
395 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147295406
CA3622751
397 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3622752
COSM1080053
rs761722419
398 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3622753
rs765086192
401 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA133862762
rs991185648
409 I>V No ClinGen
gnomAD
CA362649321
rs1440884787
410 R>Q No ClinGen
TOPMed
gnomAD
CA3622754
rs140950492
411 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA362649326
rs1247597785
411 R>H No ClinGen
gnomAD
CA3622755
rs372880737
413 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200526998
CA133862770
414 D>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA362649339
rs1176227729
414 D>N No ClinGen
gnomAD
CA362649346
rs1458531907
415 D>N No ClinGen
gnomAD
CA362649365
rs1393179287
417 K>R No ClinGen
gnomAD
CA133862774
rs200171578
420 S>G No ClinGen
1000Genomes
rs751096522
CA3622757
421 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1407428607
CA362649427
426 A>T No ClinGen
gnomAD
CA362649434
rs1193796891
427 I>V No ClinGen
TOPMed
rs1339287910
CA362650388
429 N>D No ClinGen
TOPMed
gnomAD
rs772936198
CA3622772
433 T>I No ClinGen
ExAC
CA362650435
rs1277128637
434 F>L No ClinGen
gnomAD
rs1240805062
CA362650430
434 F>Y No ClinGen
gnomAD
CA3622773
rs762803541
435 I>V No ClinGen
ExAC
gnomAD
CA3622774
rs765987450
436 Q>E No ClinGen
ExAC
gnomAD
CA3622776
rs371414089
441 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1441757735
CA362650613
448 P>R No ClinGen
TOPMed
rs765772714
CA3622780
451 G>D No ClinGen
ExAC
gnomAD
CA362650645
rs1201645313
451 G>S No ClinGen
TOPMed
TCGA novel 453 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362650673
rs1323880797
454 A>T No ClinGen
TOPMed
COSM3830719
CA362650700
rs1226143691
456 I>V breast [Cosmic] No ClinGen
cosmic curated
TOPMed
CA362650769
rs1398064326
461 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1352714327
CA362650796
463 V>I No ClinGen
TOPMed
CA3622784
rs747215746
464 W>* No ClinGen
ExAC
gnomAD
rs1280448641
CA362650841
466 N>S No ClinGen
TOPMed
CA3622785
rs755116251
468 K>R No ClinGen
ExAC
gnomAD
rs556935041
CA133865157
471 F>L No ClinGen
Ensembl
CA133865160
rs919864663
476 T>I No ClinGen
Ensembl
rs1233997549
CA362651022
479 G>R No ClinGen
gnomAD
CA362651055
rs1387937340
481 S>R No ClinGen
TOPMed
rs375233596
CA3622791
488 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375233596
CA3622792
488 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs542941632
CA3622793
CA362651168
489 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3622794
rs767024470
489 M>T No ClinGen
ExAC
gnomAD
TCGA novel 489 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362651205
rs1190888463
492 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 496 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372697577
CA3622837
500 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362653651
rs1201180555
502 M>L No ClinGen
TOPMed
rs1346745736
CA362653688
504 L>F No ClinGen
TOPMed
CA133872601
rs376971832
505 S>G No ClinGen
ESP
TOPMed
gnomAD
rs1210203534
CA362653738
507 R>Q No ClinGen
TOPMed
gnomAD
rs1238857055
COSM3394235
CA362653731
507 R>W pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
CA362653821
rs1561728211
511 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA362653834
rs1382622460
512 Q>H No ClinGen
TOPMed
rs1412739020
CA362653911
517 K>T No ClinGen
gnomAD
rs1403266224
CA362653954
520 V>I No ClinGen
TOPMed
rs1027046045
CA133872642
522 Q>H No ClinGen
TOPMed
gnomAD
CA362654061
rs1581297606
523 V>G No ClinGen
Ensembl
TCGA novel 526 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868364655
CA133872655
526 P>S No ClinGen
Ensembl
CA362654150
rs1394788361
527 G>E No ClinGen
gnomAD
CA3622845
rs771808805
527 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3622847
rs746598692
528 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771507480
CA3622851
535 V>I No ClinGen
ExAC
gnomAD
rs774976035
CA3622852
536 R>L No ClinGen
ExAC
rs760000830
CA3622853
537 I>V No ClinGen
ExAC
gnomAD
rs370584550
COSM1444988
CA3622854
542 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362654445
rs370584550
542 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 544 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3622857
rs764206298
COSM1696874
545 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA362654518
rs1581297741
546 V>A No ClinGen
Ensembl
rs200558204
CA3622858
546 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs765234035
CA3622878
550 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA362654932
rs1173551097
550 E>G No ClinGen
gnomAD
rs750374529
CA3622879
551 S>C No ClinGen
ExAC
gnomAD
rs1319360461
CA362654953
552 K>R No ClinGen
gnomAD
rs1362929818
CA362654974
554 L>F No ClinGen
gnomAD
CA3622882
rs146123232
555 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 556 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1217639395
CA362655000
556 R>H No ClinGen
TOPMed
gnomAD
rs542366279
CA3622883
556 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA3622884
rs780919811
558 N>H No ClinGen
ExAC
gnomAD
CA133874708
rs747714804
CA3622885
559 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA362655031
rs1196272184
559 M>R No ClinGen
gnomAD
CA362655026
rs747714804
559 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1215126743
CA362655042
560 K>R No ClinGen
gnomAD
CA3622886
rs755686574
561 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA3622888
rs748790925
568 E>K No ClinGen
ExAC
gnomAD
CA362655171
rs1197642793
571 C>S No ClinGen
gnomAD
rs1193326779
COSM1546679
CA362655193
573 V>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA362655225
rs1426803515
575 K>N No ClinGen
gnomAD
COSM134109
CA3622890
rs775840808
580 S>L Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs768866066
CA3622892
581 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA362655312
rs1561729465
CA362655311
582 Q>H No ClinGen
Ensembl
rs1213097075
CA362655334
584 M>I No ClinGen
Ensembl
rs1321165045
CA362655379
587 M>I No ClinGen
gnomAD
rs1480727749
CA362655468
594 K>R No ClinGen
TOPMed
CA3622896
rs138000187
596 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1208424071
CA362655521
598 F>L No ClinGen
TOPMed

No associated diseases with Q9Y232

5 regional properties for Q9Y232

Type Name Position InterPro Accession
domain Cyclic nucleotide-binding domain 470 - 594 IPR000595
domain Ion transport domain 158 - 397 IPR005821
conserved_site Cyclic nucleotide-binding, conserved site 497 - 513 IPR018488-1
conserved_site Cyclic nucleotide-binding, conserved site 535 - 558 IPR018488-2
domain Cyclic nucleotide-gated channel, C-terminal leucine zipper domain 586 - 655 IPR032406

Functions

Description
EC Number
Subcellular Localization
  • [Isoform 2]: Nucleus
  • Chromosome
  • Recognizes and binds histone H3 trimethylated at 'Lys-9', dimethylated at 'Lys-27' and trimethylated at 'Lys-27' (H3K9me3, H3K27me2 and H3K27me3, respectively) on chromatin (PubMed:19808672)
  • Multimerization is required for chromatin-binding (PubMed:19808672)
  • Recruited to sites of DNA double strand breaks in a PARP1-dependent fashion (PubMed:29177481)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
crotonyl-CoA hydratase activity Catalysis of the reaction: Acetyl-CoA + -N(6)-acetyl-L-lysine.
identical protein binding Binding to an identical protein or proteins.
methylated histone binding Binding to a histone in which a residue has been modified by methylation.
protein-macromolecule adaptor activity The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
transcription corepressor activity A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

4 GO annotations of biological process

Name Definition
negative regulation of peptidyl-lysine crotonylation Any process that stops or reduces the rate of crotonylation of a lysine residue in a protein.
random inactivation of X chromosome Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on either the paternal or maternal X-chromosome in the XX sex.
spermatid development The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q99549 MPHOSPH8 M-phase phosphoprotein 8 Homo sapiens (Human) PR
P83916 CBX1 Chromobox protein homolog 1 Homo sapiens (Human) PR
Q8N8U2 CDYL2 Chromodomain Y-like protein 2 Homo sapiens (Human) PR
P83917 Cbx1 Chromobox protein homolog 1 Mus musculus (Mouse) PR
Q9D5D8 Cdyl2 Chromodomain Y-like protein 2 Mus musculus (Mouse) PR
Q9WTK2 Cdyl Chromodomain Y-like protein Mus musculus (Mouse) PR
Q6AYK9 Cdyl Chromodomain Y-like protein Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTFQASHRSA WGKSRKKNWQ YEGPTQKLFL KRNNVSAPDG PSDPSISVSS EQSGAQQPPA
70 80 90 100 110 120
LQVERIVDKR KNKKGKTEYL VRWKGYDSED DTWEPEQHLV NCEEYIHDFN RRHTEKQKES
130 140 150 160 170 180
TLTRTNRTSP NNARKQISRS TNSNFSKTSP KALVIGKDHE SKNSQLFAAS QKFRKNTAPS
190 200 210 220 230 240
LSSRKNMDLA KSGIKILVPK SPVKSRTAVD GFQSESPEKL DPVEQGQEDT VAPEVAAEKP
250 260 270 280 290 300
VGALLGPGAE RARMGSRPRI HPLVPQVPGP VTAAMATGLA VNGKGTSPFM DALTANGTTN
310 320 330 340 350 360
IQTSVTGVTA SKRKFIDDRR DQPFDKRLRF SVRQTESAYR YRDIVVRKQD GFTHILLSTK
370 380 390 400 410 420
SSENNSLNPE VMREVQSALS TAAADDSKLV LLSAVGSVFC CGLDFIYFIR RLTDDRKRES
430 440 450 460 470 480
TKMAEAIRNF VNTFIQFKKP IIVAVNGPAI GLGASILPLC DVVWANEKAW FQTPYTTFGQ
490 500 510 520 530 540
SPDGCSTVMF PKIMGGASAN EMLLSGRKLT AQEACGKGLV SQVFWPGTFT QEVMVRIKEL
550 560 570 580 590
ASCNPVVLEE SKALVRCNMK MELEQANERE CEVLKKIWGS AQGMDSMLKY LQRKIDEF