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 Q6ZMY6

Entry ID Method Resolution Chain Position Source
AF-Q6ZMY6-F1 Predicted AlphaFoldDB

387 variants for Q6ZMY6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA405220179
rs1407134666
2 A>T No ClinGen
TOPMed
rs1303046117
CA405220193
3 S>C No ClinGen
TOPMed
rs746842354
CA9361839
3 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs781080516
CA9361841
4 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA405220221
rs1256842277
6 R>Q No ClinGen
gnomAD
rs1203946416
CA405220217
6 R>W No ClinGen
gnomAD
CA9361844
rs774336672
7 C>* No ClinGen
ExAC
gnomAD
rs1206534877
CA405220228
7 C>F No ClinGen
gnomAD
TCGA novel 7 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9361843
rs769818307
7 C>S No ClinGen
ExAC
gnomAD
rs774336672
CA405220229
7 C>W No ClinGen
ExAC
gnomAD
CA9361846
rs772240791
9 P>L No ClinGen
ExAC
gnomAD
CA307537047
rs772240791
9 P>Q No ClinGen
ExAC
gnomAD
rs761933539
CA9361845
9 P>S No ClinGen
ExAC
gnomAD
rs766752473
CA9361849
10 T>I No ClinGen
ExAC
gnomAD
rs766752473
CA9361850
10 T>K No ClinGen
ExAC
gnomAD
CA405220270
rs1395856779
12 H>Q No ClinGen
TOPMed
gnomAD
rs1408211658
CA405220290
14 R>K No ClinGen
gnomAD
CA9361852
rs765750241
15 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA9361851
rs760075210
15 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9361853
rs752205154
16 C>F No ClinGen
ExAC
gnomAD
rs1404911037
CA405220307
16 C>R No ClinGen
gnomAD
rs900682050
CA307537056
19 P>L No ClinGen
Ensembl
CA9361854
rs563701169
20 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA405220363
rs1267965453
21 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA307537061
rs996390125
22 S>F No ClinGen
Ensembl
CA307537065
rs751241166
23 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA405220373
rs1337049568
23 A>P No ClinGen
TOPMed
gnomAD
rs1337049568
CA405220376
23 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9361856
rs751241166
23 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs756925010
CA9361857
24 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1273130095
CA405220381
24 P>S No ClinGen
gnomAD
CA405220410
rs1220216842
27 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9361858
rs781166699
29 C>S No ClinGen
ExAC
gnomAD
rs745629907
CA9361859
30 P>L No ClinGen
ExAC
gnomAD
COSM3388843
COSM3388844
CA9361861
rs371696429
31 G>S pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA9361862
rs748242710
36 G>E No ClinGen
ExAC
gnomAD
CA9361863
rs772198262
40 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375921114
CA307537081
41 A>V No ClinGen
ESP
TOPMed
gnomAD
rs529290113
CA9361865
44 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA9361864
rs773116014
44 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA9361866
rs771109571
47 L>P No ClinGen
ExAC
gnomAD
rs777027370
CA9361867
48 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1429992280
CA405220645
50 P>L No ClinGen
TOPMed
gnomAD
rs1429992280
CA405220642
50 P>Q No ClinGen
TOPMed
gnomAD
rs1358168441
CA405220651
51 H>P No ClinGen
gnomAD
rs763306931
CA405220657
51 H>Q No ClinGen
ExAC
gnomAD
CA9361870
rs201338259
51 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1360086914
CA405220677
53 H>Q No ClinGen
TOPMed
gnomAD
CA405220699
rs1204276375
56 A>V No ClinGen
TOPMed
gnomAD
rs763686538
CA405220715
58 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA9361872
rs763686538
58 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA307537100
rs957991386
59 D>E No ClinGen
TOPMed
gnomAD
CA405220724
rs1445461024
59 D>Y No ClinGen
gnomAD
rs1161757722
CA405220752
62 A>S No ClinGen
gnomAD
CA405220783
rs1568355306
65 R>G No ClinGen
Ensembl
CA9361875
rs757012981
66 E>Q No ClinGen
ExAC
gnomAD
rs1158316326
CA405220817
68 P>S No ClinGen
TOPMed
gnomAD
CA405220830
rs1225536837
69 P>L No ClinGen
TOPMed
gnomAD
CA405220823
rs1383311220
69 P>S No ClinGen
gnomAD
CA405220869
rs1374708010
73 P>L No ClinGen
TOPMed
rs1449758006
CA405220899
76 H>N No ClinGen
gnomAD
CA405220926
rs755933546
78 V>L No ClinGen
ExAC
gnomAD
CA9361878
rs755933546
78 V>M No ClinGen
ExAC
gnomAD
CA405220940
rs1238290762
79 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA405220952
rs1258712610
80 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9361879
rs779648023
82 L>M No ClinGen
ExAC
gnomAD
CA307537116
rs751606015
84 W>* No ClinGen
Ensembl
rs749269993
CA9361880
85 G>D No ClinGen
ExAC
gnomAD
rs1014688532
CA405221016
87 Q>* No ClinGen
TOPMed
gnomAD
CA307537121
rs1014688532
87 Q>E No ClinGen
TOPMed
gnomAD
CA405221043
rs1181781858
89 P>H No ClinGen
TOPMed
gnomAD
CA405221045
rs1181781858
89 P>L No ClinGen
TOPMed
gnomAD
CA307537129
rs969863558
91 S>T No ClinGen
Ensembl
CA405221430
rs1599879406
93 I>T No ClinGen
Ensembl
CA9361907
rs147156559
COSM710391
95 F>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 98 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775965034
CA9361909
99 S>N No ClinGen
ExAC
gnomAD
TCGA novel
rs1206564433
CA405221472
99 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA9361910
rs749596712
101 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9361912
rs774996368
102 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs140302466
CA9361914
102 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9361913
rs774996368
102 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA307538478
rs931699319
103 H>Y No ClinGen
TOPMed
rs753724422
CA9361920
104 A>D No ClinGen
ExAC
rs753724422
CA9361919
104 A>G No ClinGen
ExAC
rs114139486
CA9361917
104 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114139486
CA9361916
104 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753724422
CA9361918
104 A>V No ClinGen
ExAC
CA9361922
rs758279288
105 V>G No ClinGen
ExAC
CA405221499
rs752641881
105 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA9361921
rs752641881
105 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs780129522
CA9361927
106 S>I No ClinGen
ExAC
gnomAD
rs756412352
CA9361925
106 S>R No ClinGen
ExAC
rs780129522
CA9361926
106 S>T No ClinGen
ExAC
gnomAD
rs200077528
CA9361928
107 T>P No ClinGen
ExAC
gnomAD
CA405221541
rs1363482947
111 C>S No ClinGen
gnomAD
CA405221562
rs779365271
114 D>A No ClinGen
ExAC
gnomAD
CA9361929
rs779365271
114 D>G No ClinGen
ExAC
gnomAD
CA405221574
rs1368521940
116 K>* No ClinGen
gnomAD
TCGA novel 116 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1381903285
CA405221576
116 K>R No ClinGen
gnomAD
COSM78777
rs772675231
CA9361931
119 S>C ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1599879521
CA405221615
122 Y>H No ClinGen
Ensembl
CA405221619
rs1599879524
122 Y>S No ClinGen
Ensembl
CA9361933
rs760089262
123 D>H No ClinGen
ExAC
gnomAD
rs543234357
CA9361934
124 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA9361935
rs776149136
125 T>P No ClinGen
ExAC
TOPMed
TCGA novel 126 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 127 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 128 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9361936
rs759166123
128 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9361937
rs765035730
129 W>C No ClinGen
ExAC
gnomAD
rs1568358367
CA405221709
129 W>S No ClinGen
Ensembl
CA405223105
rs1222372306
130 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778138509
CA9361967
131 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1202690246
CA405223137
132 V>A No ClinGen
TOPMed
gnomAD
rs1260687034
CA405223140
133 D>N No ClinGen
gnomAD
COSM3764728
COSM3764727
rs924796394
CA307539302
134 G>S central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
COSM994679
rs201739777
CA9361971
138 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 138 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405223205
rs1178683132
138 R>L No ClinGen
gnomAD
COSM994680
rs866791537
CA307539303
139 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs775123698
CA9361973
141 E>Q No ClinGen
ExAC
gnomAD
CA9361975
rs768349048
143 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA9361976
rs774148373
145 K>T No ClinGen
ExAC
gnomAD
CA405223302
rs1294613845
146 A>P No ClinGen
TOPMed
rs761688962
CA9361977
147 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA9361978
rs556019352
152 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA405223392
rs1599887326
154 T>P No ClinGen
Ensembl
rs759683512
CA405223406
155 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs759683512
CA9361980
155 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA9361983
rs758640744
156 D>G No ClinGen
ExAC
TOPMed
gnomAD
COSM3357110
CA405223416
rs148478015
COSM2751399
156 D>N haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148478015
CA9361982
156 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370627703
CA9362010
163 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
VAR_035892 166 D>H a breast cancer sample; somatic mutation [UniProt] No UniProt
rs1483589630
CA405223627
166 D>N No ClinGen
TOPMed
rs779572529
CA9362012
167 K>E No ClinGen
ExAC
gnomAD
CA9362013
CA405223640
rs753316645
167 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1208876423
CA405223643
168 T>A No ClinGen
TOPMed
rs74994260
CA9362014
171 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9362015
rs778621044
174 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs374055138
CA9362016
176 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405223699
rs1266968697
177 G>S No ClinGen
gnomAD
rs1314726939
CA405223704
177 G>V No ClinGen
TOPMed
rs771914123
CA9362017
178 K>* No ClinGen
ExAC
TOPMed
gnomAD
rs1428168027
CA405223805
181 W>* No ClinGen
gnomAD
CA9362042
rs774250848
183 V>G No ClinGen
ExAC
gnomAD
rs1402770829
CA405223838
184 R>M No ClinGen
gnomAD
CA405223844
rs1486113529
184 R>S No ClinGen
TOPMed
CA405223852
rs1390787414
185 Y>D No ClinGen
gnomAD
CA9362044
rs772252424
188 F>V No ClinGen
ExAC
gnomAD
rs902564871
CA307539716
189 I>V No ClinGen
TOPMed
CA9362046
COSM1712129
rs144304527
190 V>I skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs977301033
CA307539717
191 S>C No ClinGen
Ensembl
rs199681301
CA9362047
192 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA9362048
rs146562379
193 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs964934511
CA307539718
195 S>A No ClinGen
TOPMed
rs1568363565
CA405224053
196 P>R No ClinGen
Ensembl
CA405224041
rs1231101220
196 P>T No ClinGen
gnomAD
rs764829746
CA9362050
201 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1195781744
CA405224205
204 G>A No ClinGen
gnomAD
rs752113451
CA9362051
205 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA405224217
rs752113451
205 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1599892558
CA405224212
205 F>V No ClinGen
Ensembl
rs141262115
CA9362054
206 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1392653
rs757075743
CA9362053
206 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA9362056
rs781080393
207 V>M No ClinGen
ExAC
gnomAD
CA405224299
rs1183614787
209 H>R No ClinGen
TOPMed
rs779091057
CA9362059
211 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1461407337
CA405224371
213 I>V No ClinGen
gnomAD
rs1372336471
CA405224396
214 M>K No ClinGen
gnomAD
rs1166155145
CA405224395
214 M>L No ClinGen
gnomAD
rs1372336471
CA405224400
214 M>R No ClinGen
gnomAD
CA9362061
COSM994681
rs772340255
216 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9362062
rs773425928
216 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs574958369
CA9362065
217 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9362064
rs771306190
217 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 219 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405224518
rs1354307443
220 T>I No ClinGen
TOPMed
CA307539720
rs771491162
221 T>I No ClinGen
TOPMed
gnomAD
rs201611292
CA9362066
222 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9362067
rs765636472
223 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9362069
rs138538856
COSM3959900
COSM1392654
224 V>I lung large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9362070
rs763634191
227 D>H No ClinGen
ExAC
gnomAD
rs1318593010
CA405211159
227 D>V No ClinGen
gnomAD
CA405211187
rs1390996134
229 H>Q No ClinGen
gnomAD
rs760385302
CA9362094
230 T>R No ClinGen
ExAC
gnomAD
CA9362096
rs572771067
234 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA9362097
rs572771067
234 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1313922721
CA405211280
235 S>L No ClinGen
gnomAD
rs1315930267
CA405211317
238 F>L No ClinGen
gnomAD
rs751612872
CA9362099
239 D>G No ClinGen
ExAC
gnomAD
CA405211339
rs1226245973
239 D>H No ClinGen
gnomAD
CA405211362
rs1202491497
240 P>H No ClinGen
gnomAD
CA9362103
rs770070086
241 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA307539995
rs929201472
241 D>N No ClinGen
TOPMed
gnomAD
rs770070086
CA9362104
241 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA405211382
rs1483240756
243 Q>* No ClinGen
TOPMed
rs1472378586
CA405211417
245 V>L No ClinGen
TOPMed
gnomAD
CA405211436
rs1157302011
246 A>V No ClinGen
gnomAD
rs946383536
CA307539996
250 L>S No ClinGen
gnomAD
rs1044827821
CA307539997
252 R>G No ClinGen
Ensembl
rs774053759
CA9362107
253 C>S No ClinGen
ExAC
gnomAD
CA307539998
rs140728940
253 C>Y No ClinGen
1000Genomes
rs1048996124
CA307539999
254 I>N No ClinGen
TOPMed
CA405211567
rs1450864450
255 K>N No ClinGen
gnomAD
CA9362108
rs761395193
257 W>G No ClinGen
ExAC
gnomAD
rs1350318862
CA405211616
258 D>V No ClinGen
gnomAD
rs771826170
CA9362109
260 T>A No ClinGen
ExAC
gnomAD
CA307540001
rs773154150
260 T>I No ClinGen
Ensembl
rs777838329
CA307540002
261 S>P No ClinGen
Ensembl
CA307540004
rs879045054
262 Q>H No ClinGen
Ensembl
rs377500931
CA9362110
262 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405211683
rs1313236012
262 Q>L No ClinGen
TOPMed
rs1313858280
CA405211692
263 A>S No ClinGen
gnomAD
rs760323135
CA9362111
263 A>V No ClinGen
ExAC
gnomAD
CA9362113
rs753595272
264 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs759519170
CA9362114
264 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA405211754
rs1172039021
267 T>I No ClinGen
gnomAD
TCGA novel 269 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405211788
rs1568364873
269 T>I No ClinGen
Ensembl
rs1230580877
CA405212687
270 K>N No ClinGen
gnomAD
CA9362132
rs764944367
271 A>T No ClinGen
ExAC
gnomAD
CA405212695
rs1355465499
272 H>Y No ClinGen
gnomAD
rs1207849205
CA405212706
273 S>C No ClinGen
gnomAD
CA405212711
rs1287925072
274 N>S No ClinGen
TOPMed
gnomAD
rs1222353701
CA405212751
280 C>R No ClinGen
gnomAD
CA9362134
rs762900723
282 T>I No ClinGen
ExAC
gnomAD
CA9362135
rs767526630
284 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1472639742
CA405212784
284 S>R No ClinGen
gnomAD
CA405212782
rs1391329076
284 S>T No ClinGen
gnomAD
rs148143446
CA9362136
287 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405212813
rs1415458334
289 C>R No ClinGen
gnomAD
rs1323534877
CA405212815
289 C>Y No ClinGen
TOPMed
rs756339559
CA9362137
291 S>G No ClinGen
ExAC
gnomAD
CA9362138
rs766698986
293 W>* No ClinGen
ExAC
gnomAD
rs1454699628
CA405212844
293 W>* No ClinGen
gnomAD
TCGA novel 295 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1036131338
CA307540543
297 L>* No ClinGen
Ensembl
CA9362140
rs755400871
298 K>E No ClinGen
ExAC
gnomAD
rs779365427
CA9362141
299 I>V No ClinGen
ExAC
gnomAD
rs758903617
CA9362143
302 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA405212913
rs1358705585
303 H>Y No ClinGen
gnomAD
rs1171658458
CA405212921
304 T>A No ClinGen
TOPMed
CA307540544
rs201210259
CA307540545
305 G>R No ClinGen
TOPMed
gnomAD
CA405212926
rs201210259
305 G>W No ClinGen
TOPMed
gnomAD
rs1193023525
CA405212942
307 F>C No ClinGen
TOPMed
CA9362146
COSM994682
rs746514517
308 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA9362147
rs770635793
308 R>Q No ClinGen
ExAC
TOPMed
gnomAD
VAR_032030
CA9362148
rs11881580
310 C>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9362149
rs745463721
310 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 312 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405212973
rs1458869710
312 A>V No ClinGen
TOPMed
CA9362151
rs775316893
313 C>* No ClinGen
ExAC
gnomAD
CA405212985
rs1158050446
314 V>E No ClinGen
gnomAD
rs930942136
CA307540546
319 G>A No ClinGen
TOPMed
gnomAD
rs571091956
CA9362153
320 H>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs571091956
CA9362154
320 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760808538
CA9362155
322 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA307540547
rs938493076
322 G>S No ClinGen
gnomAD
CA9362156
rs760808538
322 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs779946826
CA9362157
326 S>C No ClinGen
ExAC
gnomAD
rs1340910043
CA405213060
326 S>P No ClinGen
gnomAD
CA307540548
rs916309262
327 C>G No ClinGen
TOPMed
rs765733742
CA405213090
330 A>G No ClinGen
ExAC
gnomAD
rs1327366823
CA405213087
330 A>T No ClinGen
gnomAD
rs765733742
CA9362159
330 A>V No ClinGen
ExAC
gnomAD
rs765538459
CA307540974
334 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs765538459
CA9362176
334 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs138717522
CA307540976
339 G>E No ClinGen
ESP
TOPMed
gnomAD
rs753069912
CA9362177
339 G>R No ClinGen
ExAC
gnomAD
TCGA novel 340 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9362179
rs764306322
343 R>T No ClinGen
ExAC
gnomAD
rs1395568192
CA405213780
346 A>T No ClinGen
gnomAD
rs752127991
CA9362180
346 A>V No ClinGen
ExAC
CA307540981
rs200178208
348 W>L No ClinGen
Ensembl
rs1166461189
CA405213879
353 G>S No ClinGen
gnomAD
rs1346383343
CA405213890
354 Y>C No ClinGen
TOPMed
rs150713418
CA9362183
355 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142717725
CA9362182
355 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9362184
rs368108396
356 K>N No ClinGen
ESP
ExAC
gnomAD
CA9362185
rs779756076
358 S>T No ClinGen
ExAC
gnomAD
CA405213923
rs1372328636
360 K>E No ClinGen
gnomAD
TCGA novel 361 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1213339071
CA405214201
362 H>R No ClinGen
TOPMed
CA307542494
rs994716918
365 W>* No ClinGen
TOPMed
CA405214280
rs1249763471
367 M>I No ClinGen
gnomAD
CA9362207
rs142169288
368 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778814914
CA9362208
369 V>I No ClinGen
ExAC
gnomAD
rs11668547
CA307542514
372 S>I No ClinGen
Ensembl
CA9362211
rs1981827
374 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA405214384
rs1358501274
375 K>E No ClinGen
gnomAD
CA9362212
rs149540278
375 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9362213
rs746885751
376 K>E No ClinGen
ExAC
gnomAD
rs1456726393
CA405214418
COSM1712130
377 W>* skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA307542564
rs956691814
378 I>S No ClinGen
Ensembl
CA9362214
rs144099790
378 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA405214457
rs892255611
380 S>C No ClinGen
TOPMed
gnomAD
CA307542573
rs892255611
380 S>F No ClinGen
TOPMed
gnomAD
rs775390989
CA9362215
380 S>T No ClinGen
ExAC
gnomAD
rs1302622164
CA405214465
381 A>S No ClinGen
gnomAD
rs768741120
CA9362217
383 K>R No ClinGen
ExAC
gnomAD
rs752419607
CA9362245
384 D>G No ClinGen
ExAC
gnomAD
CA9362244
rs764781611
384 D>Y No ClinGen
ExAC
gnomAD
rs764019263
CA405215636
385 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs757278706
CA9362249
386 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9362248
rs751290834
386 T>P No ClinGen
ExAC
gnomAD
CA405215648
CA9362250
rs200368986
387 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA307548210
rs993894810
387 M>T No ClinGen
gnomAD
TCGA novel 387 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405215651
rs1321284002
388 R>K No ClinGen
TOPMed
rs750309839
CA9362251
389 L>P No ClinGen
ExAC
gnomAD
rs755030166
COSM710387
CA9362252
390 W>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA405215661
rs1291251743
390 W>R No ClinGen
TOPMed
gnomAD
rs778920204
CA9362253
391 N>D No ClinGen
ExAC
gnomAD
CA405215692
rs1382005846
COSM1392657
394 E>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 394 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9362255
rs772254326
395 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1339885621
CA405215702
395 I>T No ClinGen
TOPMed
gnomAD
rs1568373065
CA405215705
396 D>H No ClinGen
Ensembl
TCGA novel 399 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143369467
CA9362257
408 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777013462
CA9362259
409 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 409 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405215817
rs1297537549
412 L>V No ClinGen
TOPMed
gnomAD
rs530876000
CA9362260
412 L>W No ClinGen
1000Genomes
ExAC
gnomAD
CA307548253
rs543510035
413 K>* No ClinGen
TOPMed
rs753214293
CA9362287
415 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs753214293 415 C>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs761481837
CA9362284
415 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA9362285
rs753214293
415 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs116680138
CA9362288
416 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753706528
CA405216982
417 R>I No ClinGen
ExAC
gnomAD
rs753706528
CA9362290
417 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9362289
rs753706528
417 R>T No ClinGen
ExAC
gnomAD
CA9362291
rs764181250
418 C>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 419 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1471559247
CA405217043
420 R>T No ClinGen
TOPMed
CA9362292
rs751759441
421 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1334129164
CA405217218
429 T>A No ClinGen
gnomAD
CA405217226
rs77589178
429 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77589178
CA9362297
429 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9362300
rs773875375
431 S>F No ClinGen
ExAC
gnomAD
TCGA novel 432 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9362303
rs539358526
433 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA9362302
rs570267559
433 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs571512176
CA307551651
436 Q>R No ClinGen
Ensembl
CA9362304
rs760463708
437 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs556151988
CA9362305
COSM994685
438 V>M Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9362306
rs142286952
440 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405217399
rs1293226153
440 C>W No ClinGen
TOPMed
CA405217404
rs575618079
441 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9362307
rs575618079
441 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA307551660
rs370633263
441 R>W No ClinGen
ESP
TOPMed
rs151252826
CA9362308
443 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405217434
rs1395389291
444 T>I No ClinGen
gnomAD
CA405217437
rs1395389291
444 T>K No ClinGen
gnomAD
CA9362311
rs757478322
445 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs868518012
CA307551688
445 R>K No ClinGen
Ensembl
CA307551738
rs756563131
446 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA405217454
rs1346056489
446 G>D No ClinGen
TOPMed
CA9362313
rs756563131
446 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs187257808
CA9362314
448 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 449 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1331056394
CA405217484
449 A>V No ClinGen
gnomAD
rs749847465
CA9362315
451 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9362316
rs749847465
451 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA405217528
rs1168016306
453 S>L No ClinGen
TOPMed
CA9362320
rs747684854
455 S>L No ClinGen
ExAC
gnomAD
rs1228105144
CA405217549
455 S>P No ClinGen
gnomAD
rs1228105144
CA405217547
455 S>T No ClinGen
gnomAD
rs771413024
CA9362321
457 S>T No ClinGen
ExAC
gnomAD
CA9362322
rs777412006
458 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs777412006
CA9362323
458 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs776378566
CA9362325
461 E>G No ClinGen
ExAC
rs1161235853
CA405217616
461 E>K No ClinGen
gnomAD
rs142578978
CA9362327
464 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1168022151
CA405217676
465 P>Q No ClinGen
gnomAD
CA9362330
rs761958145
467 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA9362329
rs761958145
467 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs900945130
CA307551871
469 S>G No ClinGen
TOPMed
rs895606290
CA307551872
469 S>I No ClinGen
Ensembl
rs760940871
CA9362332
473 D>G No ClinGen
ExAC
gnomAD
rs760940871
CA9362333
473 D>R No ClinGen
ExAC
gnomAD
CA9362334
rs146733199
473 D>W No ClinGen
ESP
ExAC

No associated diseases with Q6ZMY6

13 regional properties for Q6ZMY6

Type Name Position InterPro Accession
repeat WD40 repeat 91 - 215 IPR001680-1
repeat WD40 repeat 218 - 310 IPR001680-2
repeat WD40 repeat 310 - 400 IPR001680-3
repeat Pyrrolo-quinoline quinone repeat 160 - 190 IPR002372
repeat Pyrrolo-quinoline quinone beta-propeller repeat 152 - 184 IPR018391
conserved_site WD40 repeat, conserved site 160 - 174 IPR019775-1
conserved_site WD40 repeat, conserved site 245 - 259 IPR019775-2
conserved_site WD40 repeat, conserved site 288 - 302 IPR019775-3
conserved_site WD40 repeat, conserved site 336 - 350 IPR019775-4
conserved_site WD40 repeat, conserved site 378 - 392 IPR019775-5
repeat G-protein beta WD-40 repeat 117 - 131 IPR020472-1
repeat G-protein beta WD-40 repeat 336 - 350 IPR020472-2
repeat G-protein beta WD-40 repeat 378 - 392 IPR020472-3

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0V8J1 WSB2 WD repeat and SOCS box-containing protein 2 Bos taurus (Bovine) PR
Q8N157 AHI1 Jouberin Homo sapiens (Human) PR
Q9NYS7 WSB2 WD repeat and SOCS box-containing protein 2 Homo sapiens (Human) PR
Q8TEB1 DCAF11 DDB1- and CUL4-associated factor 11 Homo sapiens (Human) PR
Q5F201 Cfap52 Cilia- and flagella-associated protein 52 Mus musculus (Mouse) PR
O54929 Wsb2 WD repeat and SOCS box-containing protein 2 Mus musculus (Mouse) PR
Q8K3E5 Ahi1 Jouberin Mus musculus (Mouse) PR
A6H603 Nwd1 NACHT domain- and WD repeat-containing protein 1 Mus musculus (Mouse) PR
Q23256 wdr-5.3 WD repeat-containing protein wdr-5.3 Caenorhabditis elegans PR
Q94AI7 TPL Protein TOPLESS Arabidopsis thaliana (Mouse-ear cress) PR
Q0WV90 TPR1 Topless-related protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LRZ0 TPR2 Topless-related protein 2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MASPPRCSPT AHDRECKLPP PSAPASEYCP GKLSWGTMAR ALGRFKLSIP HTHLLATLDP
70 80 90 100 110 120
LALDREPPPH LLPEKHQVPE KLIWGDQDPL SKIPFKILSG HEHAVSTCHF CVDDTKLLSG
130 140 150 160 170 180
SYDCTVKLWD PVDGSVVRDF EHRPKAPVVE CSITGDSSRV IAASYDKTVR AWDLETGKLL
190 200 210 220 230 240
WKVRYDTFIV SCKFSPDGKY VVSGFDVDHG ICIMDAENIT TVSVIKDHHT RSITSCCFDP
250 260 270 280 290 300
DSQRVASVSL DRCIKIWDVT SQATLLTITK AHSNAISNCC FTFSGHFLCT SSWDKNLKIW
310 320 330 340 350 360
NVHTGEFRNC GACVTLMQGH EGSVSSCHFA RDSSFLISGG FDRTVAIWDV AEGYRKLSLK
370 380 390 400 410 420
GHNDWVMDVA ISNNKKWILS ASKDRTMRLW NIEEIDEIPL VIKYKKAVGL KLKQCERCDR
430 440 450 460 470
PFSIFKSDTS SEMFTQCVFC RIDTRGLPAD TSSSSSSSER ENSPPPRGSK DD