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 Q9BQ67

Entry ID Method Resolution Chain Position Source
AF-Q9BQ67-F1 Predicted AlphaFoldDB

453 variants for Q9BQ67

Variant ID(s) Position Change Description Diseaes Association Provenance
rs147327994
RCV000149314
COSM1179635
CA174767
198 R>Q Malignant tumor of prostate prostate [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9550891
rs767003669
2 A>V No ClinGen
ExAC
TOPMed
CA406681100
rs943455639
3 A>G No ClinGen
gnomAD
CA9550892
rs752396659
3 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA406681091
rs752396659
3 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA309301417
rs943455639
3 A>V No ClinGen
gnomAD
rs760213954
CA9550893
4 R>C No ClinGen
ExAC
gnomAD
CA9550894
rs763762231
4 R>H No ClinGen
ExAC
gnomAD
CA406681116
rs1195118835
5 K>E No ClinGen
gnomAD
rs1474315735
CA406681151
7 R>P No ClinGen
TOPMed
gnomAD
rs1474315735
CA406681149
7 R>Q No ClinGen
TOPMed
gnomAD
CA406681145
rs757018412
7 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs374579517
CA9550898
8 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs547531552
CA9550901
9 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs547531552
CA9550902
9 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406681183
rs1490501860
10 T>M No ClinGen
TOPMed
CA406681196
rs1415849526
11 C>Y No ClinGen
gnomAD
CA406681215
rs771325293
CA9550906
12 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA406681211
rs1312635702
12 E>G No ClinGen
gnomAD
CA406681223
rs1231009036
13 T>N No ClinGen
gnomAD
rs1226033214
CA406681234
14 G>E No ClinGen
gnomAD
CA406681230
rs1307519290
14 G>R No ClinGen
gnomAD
CA9550908
rs760015830
15 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1251374362
CA406681266
16 P>H No ClinGen
TOPMed
rs1256458718
CA406681261
16 P>S No ClinGen
gnomAD
CA406681258
rs1256458718
16 P>T No ClinGen
gnomAD
rs1188454248
CA406681290
17 M>I No ClinGen
gnomAD
rs1484831450
CA406681284
17 M>T No ClinGen
gnomAD
CA9550909
rs144932185
19 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406681338
rs887047041
19 A>P No ClinGen
TOPMed
gnomAD
rs887047041
CA309301485
19 A>T No ClinGen
TOPMed
gnomAD
rs1168415121
CA406681350
20 E>K No ClinGen
gnomAD
CA406681370
rs1601001067
21 S>A No ClinGen
Ensembl
rs775013075
CA9550910
21 S>F No ClinGen
ExAC
gnomAD
rs1435817685
CA406681391
22 G>D No ClinGen
gnomAD
CA406681382
rs1225694085
22 G>S No ClinGen
TOPMed
rs776279416
CA9550913
23 D>G No ClinGen
ExAC
gnomAD
CA9550912
rs763665732
23 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1385582015
CA406681423
24 T>A No ClinGen
TOPMed
rs1398814153
CA406681442
25 S>N No ClinGen
TOPMed
rs1005600134
CA309301507
26 S>F No ClinGen
gnomAD
rs1340842211
CA406681470
26 S>P No ClinGen
gnomAD
rs761578462
CA9550914
27 E>K No ClinGen
ExAC
gnomAD
CA9550917
rs758376977
28 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA406681522
rs758376977
28 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs750432167
CA9550916
28 G>S No ClinGen
ExAC
gnomAD
rs766374937
CA9550918
29 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs766374937
CA406681539
29 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA406681559
rs1421702000
30 A>V No ClinGen
TOPMed
rs1345526986
CA406681586
32 V>L No ClinGen
TOPMed
gnomAD
CA9550919
rs752842457
33 Y>C No ClinGen
ExAC
gnomAD
rs1242978952
CA406681604
33 Y>H No ClinGen
gnomAD
rs752842457
CA309301524
33 Y>S No ClinGen
ExAC
gnomAD
rs1439455288
CA406681657
36 G>A No ClinGen
TOPMed
CA309301538
rs78848583
37 R>G No ClinGen
gnomAD
rs749514627
CA9550922
37 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA406681664
rs78848583
37 R>W No ClinGen
gnomAD
TCGA novel 38 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1402850141
CA406681682
38 G>V No ClinGen
gnomAD
rs1345479416
CA406681704
39 P>L No ClinGen
TOPMed
gnomAD
rs1317992498
CA406681708
40 P>A No ClinGen
gnomAD
CA406681724
rs1372478293
40 P>L No ClinGen
gnomAD
rs558393336
CA309301545
42 R>H No ClinGen
1000Genomes
gnomAD
rs1225307953
CA406681764
43 E>* No ClinGen
TOPMed
gnomAD
CA406681757
rs1225307953
43 E>K No ClinGen
TOPMed
gnomAD
rs779219427
CA9550924
44 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA9550923
rs757613737
44 G>R No ClinGen
ExAC
gnomAD
rs772590614
CA406681858
48 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs772590614
CA9550926
48 V>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1395022
rs1231757801
CA406681893
49 M>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA406681947
rs1199624471
51 E>K No ClinGen
gnomAD
rs775917486
CA9550927
53 A>G No ClinGen
ExAC
gnomAD
rs1469004949
CA406681999
53 A>T No ClinGen
gnomAD
CA406682030
rs1251754873
54 Y>F No ClinGen
gnomAD
rs1471435655
CA406682069
56 L>F No ClinGen
gnomAD
TCGA novel 57 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9550928
rs746505181
57 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA406682110
rs1012431716
58 H>N No ClinGen
TOPMed
gnomAD
rs768207196
CA9550929
58 H>R No ClinGen
ExAC
rs1012431716
CA309301594
58 H>Y No ClinGen
TOPMed
gnomAD
CA406682131
rs1418170773
59 R>* No ClinGen
TOPMed
gnomAD
CA406682128
rs1418170773
59 R>G No ClinGen
TOPMed
gnomAD
CA406682296
rs1258573036
63 G>A No ClinGen
gnomAD
CA406682195
rs1156562513
63 G>S No ClinGen
TOPMed
gnomAD
rs904836271
CA309301787
65 P>L No ClinGen
Ensembl
rs1186344725
CA406682324
65 P>T No ClinGen
TOPMed
gnomAD
rs753973554
CA9550958
70 D>N No ClinGen
ExAC
gnomAD
CA9550959
rs761824697
71 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA9550960
rs761824697
71 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1398129245
CA406682463
73 R>Q No ClinGen
TOPMed
rs758818281
CA9550962
73 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs138505126
CA9550964
75 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM304919
rs780443467
CA9550963
75 H>Y large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1281517559
CA406682512
77 G>R No ClinGen
gnomAD
CA9550968
rs747701574
77 G>V No ClinGen
ExAC
gnomAD
TCGA novel 78 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9550970
rs777629154
79 N>D No ClinGen
ExAC
gnomAD
rs1448361154
CA406682550
79 N>S No ClinGen
gnomAD
rs748929813
CA9550971
80 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1193297764
CA406682560
80 R>W No ClinGen
TOPMed
gnomAD
rs770890791
CA406682579
82 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9550972
rs770890791
82 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA406682606
rs1433937751
84 P>L No ClinGen
gnomAD
rs1056118500
CA309301930
84 P>S No ClinGen
TOPMed
gnomAD
CA406682613
rs1400527369
85 L>F No ClinGen
gnomAD
rs1170580274
CA406682627
86 T>R No ClinGen
gnomAD
rs1002664727
CA309301933
87 L>V No ClinGen
TOPMed
CA309301938
rs1035850861
88 Y>D No ClinGen
TOPMed
CA406682661
rs1317757068
89 L>* No ClinGen
gnomAD
TCGA novel
rs759203855
CA9550975
CA9550974
89 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
CA406682658
rs1401430711
89 L>V No ClinGen
gnomAD
CA406682680
rs1443171204
90 C>W No ClinGen
gnomAD
rs775223033
CA9550976
92 G>R No ClinGen
ExAC
gnomAD
rs1370909333
CA406682713
93 T>I No ClinGen
gnomAD
CA406682715
rs1231609087
94 Q>K No ClinGen
gnomAD
CA406682730
rs1569077390
95 A>T No ClinGen
Ensembl
rs961077962
CA309301944
97 S>N No ClinGen
TOPMed
rs140240394
CA9550977
97 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406682773
rs1352401371
98 A>V No ClinGen
gnomAD
rs1205314817
CA406682816
101 N>S No ClinGen
gnomAD
rs1205314817
CA406682814
101 N>T No ClinGen
gnomAD
rs1280814465
CA406682880
103 L>P No ClinGen
TOPMed
rs745680554
CA9550991
104 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs778372921
CA9550990
104 M>V No ClinGen
ExAC
gnomAD
rs1252547854
CA406682910
105 M>I No ClinGen
gnomAD
rs1438227348
CA406682929
107 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs973980013
CA309302061
114 T>I No ClinGen
gnomAD
CA309302077
rs192256530
115 K>E No ClinGen
1000Genomes
CA9550992
rs771758365
116 P>L No ClinGen
ExAC
gnomAD
TCGA novel 117 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769899973
CA9550995
118 P>L No ClinGen
ExAC
gnomAD
rs746925561
CA406683073
118 P>S No ClinGen
ExAC
gnomAD
CA9550994
rs746925561
118 P>T No ClinGen
ExAC
gnomAD
CA406683112
rs773308912
121 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA9550997
rs773308912
121 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 122 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569077504
CA406683149
123 D>E No ClinGen
Ensembl
rs751837560
CA9550998
124 E>* No ClinGen
ExAC
gnomAD
rs1601001763
CA406683172
124 E>D No ClinGen
Ensembl
rs1306497669
CA406683156
124 E>K No ClinGen
TOPMed
gnomAD
rs1569077519
COSM998963
CA406683185
125 E>D Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1433142926
CA406683194
126 E>K No ClinGen
TOPMed
rs137971040
CA9551005
128 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406683226
rs1601001786
128 E>K No ClinGen
Ensembl
CA406683250
rs1237632415
129 E>D No ClinGen
TOPMed
rs774435008
CA9551006
130 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs760008172
CA309302112
131 E>* No ClinGen
ExAC
gnomAD
rs760008172
CA9551008
131 E>K No ClinGen
ExAC
gnomAD
CA406683958
rs1209111210
133 D>E No ClinGen
TOPMed
rs373794519
CA309302124
133 D>H No ClinGen
ESP
TOPMed
rs373794519
CA309302118
133 D>N No ClinGen
ESP
TOPMed
CA406683966
rs1175977335
134 E>K No ClinGen
TOPMed
gnomAD
rs1339980137
CA406683985
135 E>K No ClinGen
gnomAD
rs1204199408
CA406684016
136 E>G No ClinGen
gnomAD
rs1006520417
CA309302164
137 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9551010
rs200480479
137 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406684056
rs1188863566
139 P>T No ClinGen
gnomAD
CA406684119
rs1374154461
143 L>M No ClinGen
gnomAD
rs745493814
CA9551016
145 M>T No ClinGen
ExAC
gnomAD
rs371175718
CA9551015
COSM1612521
145 M>V liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA406684173
rs1377987172
146 V>G No ClinGen
gnomAD
CA9551017
rs149492901
146 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779791745
CA9551018
147 P>S No ClinGen
ExAC
gnomAD
rs768601092
CA406684207
148 H>Q No ClinGen
ExAC
gnomAD
CA9551019
rs150286220
148 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776488725
CA9551021
149 Y>C No ClinGen
ExAC
gnomAD
CA309302199
rs956803083
149 Y>N No ClinGen
TOPMed
gnomAD
rs776488725
CA406684216
149 Y>S No ClinGen
ExAC
gnomAD
CA406684232
rs1272237017
150 G>D No ClinGen
gnomAD
CA9551023
rs375069485
152 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9551025
rs752123165
154 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA406684287
rs752123165
154 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1188363336
CA406684307
155 V>A No ClinGen
gnomAD
rs1187275879
CA406684316
156 R>P No ClinGen
TOPMed
gnomAD
rs1187275879
CA406684314
156 R>Q No ClinGen
TOPMed
gnomAD
rs759649388
CA9551026
156 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA406684929
rs1475935896
157 V>E No ClinGen
TOPMed
CA9551044
rs778894183
158 S>A No ClinGen
ExAC
gnomAD
CA9551045
rs745913359
159 W>* No ClinGen
ExAC
gnomAD
rs1456314256
CA406684968
161 G>D No ClinGen
gnomAD
CA406685007
rs1437057108
164 P>H No ClinGen
gnomAD
rs200213949
CA9551049
168 V>G No ClinGen
ExAC
gnomAD
CA9551048
CA406685059
rs148152481
168 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406685057
rs148152481
168 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9551050
rs777326596
169 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA9551051
rs777326596
169 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA406685104
rs1236111427
170 S>L No ClinGen
TOPMed
CA309305007
rs944223880
172 K>N No ClinGen
Ensembl
CA406685188
rs1569078809
175 V>M No ClinGen
Ensembl
rs1289290508
CA406685198
176 E>K No ClinGen
gnomAD
rs765734169
CA9551052
177 V>G No ClinGen
ExAC
gnomAD
rs1226668033
CA406685242
178 F>L No ClinGen
gnomAD
rs749920633
CA406685250
179 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA9551053
rs749920633
179 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1268121011
CA406685261
180 L>R No ClinGen
TOPMed
CA309305035
rs766021879
181 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs199574524
CA9551057
181 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199574524
CA9551056
181 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766021879
CA9551055
181 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1209090
CA9551059
rs752502004
182 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA9551058
rs201501296
182 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406685345
rs1601004211
186 V>G No ClinGen
Ensembl
COSM1209089
rs777708503
CA9551061
186 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA406685361
rs1419326653
187 V>A No ClinGen
gnomAD
CA406685363
rs1419326653
187 V>G No ClinGen
gnomAD
CA406685401
rs1569078835
189 E>D No ClinGen
Ensembl
rs1405423543
CA406685432
191 Q>L No ClinGen
gnomAD
CA9551062
rs745939644
192 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA406685464
rs1444183327
193 L>R No ClinGen
gnomAD
CA9551066
rs769181197
194 A>T No ClinGen
ExAC
gnomAD
CA9551067
rs144047399
195 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs568112921
CA9551069
196 F>S No ClinGen
ExAC
gnomAD
rs147327994
CA406685535
198 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9551071
rs201701983
198 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9551072
rs751255091
199 D>G No ClinGen
ExAC
gnomAD
rs1251494970
CA406685541
199 D>H No ClinGen
gnomAD
rs1247729053
CA406685558
200 E>A No ClinGen
TOPMed
CA406685571
rs1601004276
201 Q>E No ClinGen
Ensembl
COSM1734864
rs370720690
CA9551073
202 A>T pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA9551074
rs767112071
204 M>I No ClinGen
ExAC
rs1259135513
CA406685647
206 P>A No ClinGen
gnomAD
rs140674923
CA309305126
207 I>L No ClinGen
ESP
rs752450363
CA406685682
208 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1035987213
CA309305133
209 S>F No ClinGen
Ensembl
TCGA novel 209 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs891739403
CA309305171
211 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9551077
rs777640423
211 A>V No ClinGen
ExAC
gnomAD
CA406685737
rs1369668422
212 G>A No ClinGen
gnomAD
rs1322599161
CA406685729
212 G>R No ClinGen
TOPMed
gnomAD
CA406685761
rs1315062434
214 M>T No ClinGen
gnomAD
rs753803007
CA9551078
214 M>V No ClinGen
ExAC
gnomAD
rs1341294712
CA406685770
215 G>S No ClinGen
gnomAD
CA406685806
rs1277110044
217 G>D No ClinGen
TOPMed
rs1282446606
CA406685800
217 G>S No ClinGen
gnomAD
rs911606479
CA309305214
219 A>G No ClinGen
TOPMed
CA406685822
rs1229340560
219 A>P No ClinGen
TOPMed
CA9551082
rs755272077
221 D>A No ClinGen
ExAC
gnomAD
rs1601004361
CA406685845
221 D>E No ClinGen
Ensembl
CA9551081
rs747045365
221 D>N No ClinGen
ExAC
gnomAD
rs1263783733
CA406685854
222 W>S No ClinGen
gnomAD
CA406685866
rs1569078938
223 S>P No ClinGen
Ensembl
CA406685872
rs1340527618
223 S>Y No ClinGen
gnomAD
rs1455989802
CA406685887
224 P>L No ClinGen
TOPMed
rs147465341
CA406685889
225 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770573431 225 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs770573431 225 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs748463030
CA9551085
225 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9551084
rs147465341
225 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9551087
rs139299867
226 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1569078977
CA406685921
228 G>S No ClinGen
Ensembl
rs200765474
CA9551115
229 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs150020838
CA9551116
229 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150020838
CA9551117
229 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756383763
CA9551120
233 G>A No ClinGen
ExAC
gnomAD
CA406686033
rs145815703
233 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9551119
rs145815703
233 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406686048
rs1228489626
234 D>G No ClinGen
gnomAD
CA9551121
rs777804069
235 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA9551122
rs754210394
237 K>Q No ClinGen
ExAC
gnomAD
rs779454124
CA9551124
243 T>I No ClinGen
ExAC
gnomAD
rs746353536
CA9551125
244 P>S No ClinGen
ExAC
gnomAD
CA9551126
rs539481541
245 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs564945522
CA9551130
246 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA406686231
rs1569079124
247 G>D No ClinGen
Ensembl
CA9551132
rs769694855
247 G>S No ClinGen
ExAC
gnomAD
rs201666798
CA9551134
248 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA406686260
rs1424571186
250 W>R No ClinGen
TOPMed
rs766182030
CA9551136
251 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs760608266
CA9551137
252 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA9551138
rs544363028
253 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1472225882
CA406686323
254 Q>* No ClinGen
gnomAD
rs1207970981
CA406686340
255 R>Q No ClinGen
TOPMed
rs754046830
CA9551139
255 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA406686357
rs1326505023
256 P>R No ClinGen
gnomAD
rs757669835
CA309305682
257 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1285411761
CA406686360
257 F>L No ClinGen
TOPMed
CA406686361
rs1245098362
257 F>Y No ClinGen
TOPMed
CA9551142
rs756088504
258 V>A No ClinGen
ExAC
gnomAD
rs779219307
CA9551141
258 V>M No ClinGen
ExAC
gnomAD
rs1451006188
CA406686369
259 G>S No ClinGen
TOPMed
CA9551143
rs758965827
260 H>Q No ClinGen
ExAC
gnomAD
rs780367395
CA9551144
261 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs746532886
CA9551145
262 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs768042455
CA9551146
262 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs781045719
CA9551147
265 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA406686458
rs1368592385
266 D>N No ClinGen
TOPMed
gnomAD
rs1188322606
CA406686482
267 L>R No ClinGen
gnomAD
CA406686499
rs1458454048
268 Q>H No ClinGen
TOPMed
CA406686484
rs1368416670
268 Q>K No ClinGen
gnomAD
CA406686515
rs1368153810
269 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9551148
rs747778309
271 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1456782965
CA406686535
271 P>S No ClinGen
gnomAD
rs1358367482
CA406686594
275 T>A No ClinGen
gnomAD
CA9551150
rs773166425
275 T>M No ClinGen
ExAC
gnomAD
rs761822700
CA9551177
278 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1376713664
CA406686724
281 S>L No ClinGen
gnomAD
rs1389298760
CA406686731
283 D>N No ClinGen
gnomAD
rs763429005
CA406686742
284 A>D No ClinGen
ExAC
gnomAD
rs773302363
CA9551179
284 A>T No ClinGen
ExAC
gnomAD
rs763429005
CA9551180
284 A>V No ClinGen
ExAC
gnomAD
CA406686747
rs1440213856
285 S>C No ClinGen
TOPMed
COSM1190102
CA9551181
rs766626456
286 I>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs149086809
CA9551182
287 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149086809
CA406686755
287 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9551183
rs755571291
287 R>H No ClinGen
ExAC
gnomAD
CA9551184
rs755571291
287 R>P No ClinGen
ExAC
gnomAD
rs752263846
CA9551185
288 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA9551186
rs755684797
288 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1329102216
CA406686775
290 D>A No ClinGen
gnomAD
rs1248930135
CA406686782
291 I>F No ClinGen
gnomAD
rs143441649
CA9551188
291 I>M No ClinGen
ESP
ExAC
gnomAD
rs367969982
CA9551189
292 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1037527529
CA309306113
292 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1160790405
CA406686796
294 A>P No ClinGen
gnomAD
rs745615935
CA9551191
294 A>V No ClinGen
ExAC
gnomAD
rs1456230245
CA406686801
295 P>A No ClinGen
gnomAD
rs1478930684
CA406686821
297 K>N No ClinGen
TOPMed
gnomAD
CA406686823
rs1351532074
298 A>P No ClinGen
gnomAD
TCGA novel 299 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1473547984
CA406686840
300 M>T No ClinGen
TOPMed
rs1436943535
CA406686862
303 T>I No ClinGen
gnomAD
CA406686861
rs1436943535
303 T>R No ClinGen
gnomAD
rs535666494
CA9551193
306 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1289193110
CA406686879
306 A>V No ClinGen
gnomAD
CA9551194
rs201243351
307 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs988219832
CA309306168
310 D>H No ClinGen
gnomAD
CA406686901
rs988219832
310 D>N No ClinGen
gnomAD
COSM1318273
CA9551196
rs773527945
311 V>I haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9551197
rs374656254
312 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs554415680
CA9551198
312 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA406686919
rs1489735613
313 V>I No ClinGen
TOPMed
gnomAD
CA9551199
rs774599231
317 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs140220072
CA9551200
318 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9551201
rs768208806
COSM3743032
318 R>H liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
VAR_046334
rs2302951
CA9551203
319 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs145223989
CA9551202
319 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406686965
rs1405837220
320 E>* No ClinGen
TOPMed
gnomAD
CA406686963
rs1405837220
320 E>K No ClinGen
TOPMed
gnomAD
rs1363537780
CA406687028
325 S>N No ClinGen
gnomAD
rs140774613
CA9551205
327 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406687080
rs1285963103
328 D>E No ClinGen
gnomAD
rs201752779
CA9551207
328 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs201752779
CA406687075
328 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA406687095
rs1180913607
329 D>E No ClinGen
TOPMed
CA406687091
rs1601005004
329 D>G No ClinGen
Ensembl
rs1601004999
CA406687083
329 D>N No ClinGen
Ensembl
CA9551208
rs778567948
331 A>G No ClinGen
ExAC
gnomAD
CA406687124
rs1444416724
332 L>V No ClinGen
TOPMed
rs750221357
CA9551209
337 L>V No ClinGen
ExAC
gnomAD
rs372404488
CA406687211
338 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406687214
COSM998965
rs1344811488
338 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs372404488
CA9551210
338 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1274922675
CA406687249
340 F>L No ClinGen
gnomAD
CA406687257
rs1436792498
341 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1436792498
CA406687254
341 K>Q No ClinGen
gnomAD
rs1569080124
CA406687430
342 S>A No ClinGen
Ensembl
CA406687440
rs1328132367
343 G>S No ClinGen
TOPMed
rs536926346
CA9551239
345 P>A No ClinGen
1000Genomes
ExAC
gnomAD
CA309307588
rs34470836
345 P>L No ClinGen
gnomAD
CA309307585
rs34470836
345 P>Q No ClinGen
gnomAD
rs536926346
CA406687470
345 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs777188163
CA9551240
346 V>L No ClinGen
ExAC
gnomAD
CA9551241
rs200748396
347 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs752987228
CA309307625
347 A>V No ClinGen
Ensembl
CA406687481
rs1601005958
348 T>P No ClinGen
Ensembl
rs1325088242
CA406687488
349 F>L No ClinGen
gnomAD
CA406687555
rs144509270
353 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144509270
CA9551243
353 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762623800
CA9551244
354 A>D No ClinGen
ExAC
gnomAD
TCGA novel 354 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9551245
rs765966446
356 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs765966446
CA406687588
356 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751367297
CA9551246
357 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs745784143
CA9551247
359 V>I Variant assessed as Somatic; 4.667e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752659401
CA9551249
360 E>K No ClinGen
ExAC
gnomAD
CA9551252
rs565828207
362 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406687670
rs1601005995
362 H>Y No ClinGen
Ensembl
CA9551253
rs745897631
363 P>L No ClinGen
ExAC
gnomAD
CA9551254
rs377375944
364 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406687723
rs1351155961
365 D>A No ClinGen
TOPMed
CA406687727
rs1383422301
365 D>E No ClinGen
gnomAD
CA309307709
rs751716557
367 G>E No ClinGen
TOPMed
gnomAD
rs747396458
CA9551256
367 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA406687761
rs578057612
368 V>F No ClinGen
1000Genomes
ExAC
gnomAD
rs578057612
CA9551257
368 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA406687811
rs777050100
372 S>A No ClinGen
ExAC
gnomAD
rs755256324
COSM998966
CA9551259
372 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA9551258
rs777050100
372 S>P No ClinGen
ExAC
gnomAD
rs772729812
CA9551261
373 G>A No ClinGen
ExAC
gnomAD
rs772729812
CA406687828
373 G>D No ClinGen
ExAC
gnomAD
CA406687836
rs1211445453
374 A>T No ClinGen
gnomAD
rs1490117912
CA406687863
376 H>N No ClinGen
gnomAD
CA9551264
rs774041858
377 Q>H No ClinGen
ExAC
gnomAD
CA9551265
rs759300042
380 Q>* No ClinGen
ExAC
gnomAD
CA9551267
rs752395281
380 Q>H No ClinGen
ExAC
gnomAD
rs767313528
CA9551266
380 Q>R No ClinGen
ExAC
gnomAD
CA406687905
rs1459862616
382 D>N No ClinGen
gnomAD
CA9551269
rs545560225
384 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1300983767
CA406687927
385 V>A No ClinGen
gnomAD
CA406687925
rs1423100966
385 V>L No ClinGen
gnomAD
TCGA novel 386 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9551271
rs146895668
387 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9551270
rs750538304
387 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9551273
rs373816379
390 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373816379
CA9551272
390 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377325041
CA9551274
391 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406687977
rs200076597
CA406687976
393 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA309307793
rs895089660
393 D>N No ClinGen
gnomAD
rs748857197
CA9551279
394 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1285571446
CA406687983
395 E>K No ClinGen
TOPMed
rs773915916
CA9551281
397 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA9551285
rs775372217
399 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771580285
CA9551284
399 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760482921
CA9551286
400 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9551289
rs763171131
402 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1334815921
CA406688041
404 P>L No ClinGen
gnomAD
CA406688076
rs1002184073
409 F>L No ClinGen
TOPMed
gnomAD
CA9551294
rs753109235
410 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs756464583
CA9551295
411 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA406688537
rs1262761314
413 G>A No ClinGen
TOPMed
CA406688556
rs1252529554
414 E>D No ClinGen
gnomAD
rs1490789468
CA406688545
414 E>K No ClinGen
TOPMed
CA406688565
rs1292174614
415 T>I No ClinGen
TOPMed
rs1243090326
CA406688582
416 E>D No ClinGen
gnomAD
CA9551298
rs771387893
416 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs771387893
CA406688572
416 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA406688613
rs1460323654
419 E>K No ClinGen
gnomAD
rs1569080335
CA406688680
423 H>L No ClinGen
Ensembl
CA9551300
rs745313012
424 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9551299
rs778508457
424 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1601006214
CA406688704
425 Q>R No ClinGen
Ensembl
rs1450294811
CA406688758
429 L>H No ClinGen
gnomAD
CA406688753
rs1405301504
429 L>I No ClinGen
gnomAD
rs776745728
CA9551305
430 L>P No ClinGen
ExAC
gnomAD
rs761869282
CA9551307
431 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs761869282
CA9551306
431 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA406688785
rs1473912897
432 S>G No ClinGen
TOPMed
gnomAD
rs751672705
CA9551308
432 S>N No ClinGen
ExAC
gnomAD
rs1173096239
CA406688801
433 T>A No ClinGen
TOPMed
CA9551309
rs759465666
433 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767845353
CA309310748
434 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA9551310
rs767845353
434 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs756511758
CA9551312
435 L>P No ClinGen
ExAC
gnomAD
rs955017360
CA309310776
440 I>V No ClinGen
TOPMed
CA9551315
rs201379668
442 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771216738
CA9551316
442 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA406688944
rs1199539716
444 I>M No ClinGen
gnomAD
rs1601006294
CA406688934
444 I>V No ClinGen
Ensembl
CA406688952
rs1428049036
445 S>N No ClinGen
gnomAD
rs768380375
COSM1395025
CA9551321
446 V>A large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs371830640
COSM70993
CA9551319
446 V>I ovary Variant assessed as Somatic; 5.47e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9551320
rs371830640
446 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406688980
rs1452812102
447 V>C No ClinGen
TOPMed
gnomAD

No associated diseases with Q9BQ67

9 regional properties for Q9BQ67

Type Name Position InterPro Accession
repeat WD40 repeat 203 - 243 IPR001680-1
repeat WD40 repeat 249 - 292 IPR001680-2
repeat WD40 repeat 297 - 338 IPR001680-3
repeat WD40 repeat 342 - 383 IPR001680-4
conserved_site WD40 repeat, conserved site 323 - 337 IPR019775
repeat G-protein beta WD-40 repeat 277 - 291 IPR020472-1
repeat G-protein beta WD-40 repeat 323 - 337 IPR020472-2
repeat G-protein beta WD-40 repeat 369 - 383 IPR020472-3
domain Histone-binding protein RBBP4, N-terminal 45 - 112 IPR022052

Functions

Description
EC Number
Subcellular Localization
  • Nucleus, nucleolus
  • Nucleus
  • Chromosome
  • Present in the nucleus throughout interphase and is detached from chromatin at the onset of mitosis and rebinds at telophase when the pre-replication complexes (pre-RC) is formed (PubMed:25990725)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 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.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

4 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.
DNA replication origin binding Binding to a DNA replication origin, a unique DNA sequence of a replicon at which DNA replication is initiated and proceeds bidirectionally or unidirectionally.
histone binding Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
RNA binding Binding to an RNA molecule or a portion thereof.

4 GO annotations of biological process

Name Definition
DNA replication The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
nucleosome assembly The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
nucleosome disassembly The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
ribosome biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAARKGRRRT CETGEPMEAE SGDTSSEGPA QVYLPGRGPP LREGEELVMD EEAYVLYHRA
70 80 90 100 110 120
QTGAPCLSFD IVRDHLGDNR TELPLTLYLC AGTQAESAQS NRLMMLRMHN LHGTKPPPSE
130 140 150 160 170 180
GSDEEEEEED EEDEEERKPQ LELAMVPHYG GINRVRVSWL GEEPVAGVWS EKGQVEVFAL
190 200 210 220 230 240
RRLLQVVEEP QALAAFLRDE QAQMKPIFSF AGHMGEGFAL DWSPRVTGRL LTGDCQKNIH
250 260 270 280 290 300
LWTPTDGGSW HVDQRPFVGH TRSVEDLQWS PTENTVFASC SADASIRIWD IRAAPSKACM
310 320 330 340 350 360
LTTATAHDGD VNVISWSRRE PFLLSGGDDG ALKIWDLRQF KSGSPVATFK QHVAPVTSVE
370 380 390 400 410 420
WHPQDSGVFA ASGADHQITQ WDLAVERDPE AGDVEADPGL ADLPQQLLFV HQGETELKEL
430 440
HWHPQCPGLL VSTALSGFTI FRTISV