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 Q86UT8

Entry ID Method Resolution Chain Position Source
AF-Q86UT8-F1 Predicted AlphaFoldDB

338 variants for Q86UT8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA6310610
rs781824691
2 A>P No ExAC
gnomAD
ClinGen
rs1565655067
CA382912035
4 A>V No ClinGen
Ensembl
rs910925018
CA229638586
5 Q>* No TOPMed
ClinGen
rs781993939
CA229638590
6 R>C No ClinGen
TOPMed
gnomAD
rs1565655102
CA382912061
6 R>H No ClinGen
Ensembl
CA382912054
rs781993939
6 R>S No TOPMed
gnomAD
ClinGen
rs1291734519
CA382912066
7 C>S No TOPMed
ClinGen
CA6310612
rs782630034
7 C>W No ExAC
TOPMed
gnomAD
ClinGen
CA229638595
rs1043498787
7 C>Y No TOPMed
gnomAD
ClinGen
rs1336743266
CA382912090
8 P>L No TOPMed
gnomAD
ClinGen
CA6310614
rs1016045617
8 P>S No TOPMed
ClinGen
CA382912081
rs1016045617
8 P>T No TOPMed
ClinGen
rs373158845
CA6310616
9 L>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA382912105
rs1486222603
10 C>Y No ClinGen
gnomAD
rs782696702
CA6310617
11 R>C No ClinGen
ExAC
gnomAD
rs782696702
CA382912115
11 R>G No ExAC
gnomAD
ClinGen
CA229638666
rs867717095
11 R>H No Ensembl
ClinGen
CA382912128
rs1461516194
12 Q>H No TOPMed
ClinGen
rs200075860
CA6310619
13 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185430081
CA382912142
13 T>N No ClinGen
TOPMed
CA382912159
rs1251634838
14 F>S No ClinGen
TOPMed
rs782106623
CA6310623
18 R>C No ClinGen
ExAC
gnomAD
rs782106623
CA6310622
18 R>S No ClinGen
ExAC
gnomAD
CA382912233
rs1179338618
19 G>W No ClinGen
TOPMed
rs1592041243
CA382912289
21 V>F No ClinGen
Ensembl
rs199921161
CA229638736
22 Y>S No ClinGen
Ensembl
CA382912344
rs782053254
24 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA6310625
COSM3808519
rs782053254
24 R>L breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs782804370
CA6310626
25 K>Q No ExAC
gnomAD
ClinGen
CA6310627
rs781888190
25 K>R No ClinGen
ExAC
gnomAD
CA6310628
rs782132763
27 Q>* No ExAC
gnomAD
ClinGen
rs1592041302
CA382912399
27 Q>H No Ensembl
ClinGen
rs782132763
CA6310629
27 Q>K No ClinGen
ExAC
gnomAD
rs896062537
CA229638753
28 R>G No ClinGen
TOPMed
CA382912419
rs1184993451
28 R>Q No TOPMed
gnomAD
ClinGen
CA382912429
rs1395073979
29 Q>* No ClinGen
gnomAD
CA229638773
rs918885747
32 E>A No ClinGen
Ensembl
CA6310631
rs782460921
32 E>K No ClinGen
ExAC
gnomAD
rs1287515003
CA382912581
36 R>G No gnomAD
ClinGen
rs1317401752
CA382912587
36 R>K No ClinGen
TOPMed
gnomAD
CA6310632
rs782589885
36 R>S No ClinGen
ExAC
gnomAD
CA382912605
rs1254265344
37 L>H No gnomAD
ClinGen
CA229638788
rs1044379492
37 L>V No ClinGen
TOPMed
CA6310634
rs782555307
39 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA382912632
rs372983214
39 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6310633
rs372983214
39 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1471804365
CA382912648
40 Q>* No TOPMed
gnomAD
ClinGen
CA382912644
rs1471804365
40 Q>K No TOPMed
gnomAD
ClinGen
rs1592041414
CA382912649
40 Q>P No ClinGen
Ensembl
rs201382314
CA6310657
41 V>G No ExAC
gnomAD
ClinGen
rs1427356997
CA382912710
41 V>M No TOPMed
gnomAD
ClinGen
CA6310659
rs782641930
42 E>G No ClinGen
ExAC
gnomAD
rs1366764368
CA382912734
43 A>G No gnomAD
ClinGen
CA6310660
rs782243265
43 A>T No ClinGen
ExAC
gnomAD
CA382912748
rs1305638930
45 R>C No gnomAD
ClinGen
rs562464017
CA382912749
45 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs562464017
CA6310663
45 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA382912754
rs562464017
45 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA382912792
rs1274024284
47 A>S No gnomAD
ClinGen
rs782031776
CA6310665
49 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs370851953
CA6310666
49 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370851953
CA382912822
49 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA382912833
rs1455927254
50 A>S No TOPMed
ClinGen
rs1469249886
CA382912840
50 A>V No gnomAD
ClinGen
CA229638971
rs781975206
51 A>P No ExAC
TOPMed
gnomAD
ClinGen
rs781975206
CA6310668
51 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs782088897
CA6310669
52 Q>R No ExAC
TOPMed
gnomAD
ClinGen
rs1592042028
CA382912893
53 V>G No ClinGen
Ensembl
rs782720687
CA6310670
53 V>L No ClinGen
ExAC
gnomAD
CA6310672
rs574488069
55 R>P No 1000Genomes
ExAC
gnomAD
ClinGen
CA6310673
rs782554719
56 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA382912934
rs782554719
56 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs1411325072
CA382912942
57 V>M No gnomAD
ClinGen
rs541867889
CA6310674
58 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs541867889
CA382912964
58 P>S No 1000Genomes
ExAC
gnomAD
ClinGen
rs923703174
CA229639025
61 E>G No TOPMed
ClinGen
rs782494985
CA382912997
62 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs782494985
CA6310676
62 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs527454301
CA6310677
64 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA382913028
rs1430160813
65 W>R No TOPMed
gnomAD
ClinGen
rs782205675
CA6310678
65 W>S No ExAC
TOPMed
gnomAD
ClinGen
CA382913042
rs1200927310
66 C>G No ClinGen
Ensembl
CA382913065
rs782453291
68 C>F No ExAC
gnomAD
ClinGen
rs782453291
CA6310679
68 C>Y No ExAC
gnomAD
ClinGen
rs917425937
CA229639066
70 G>D No ClinGen
TOPMed
CA229639069
rs148851960
71 C>W No ClinGen
Ensembl
CA6310680
rs782747146
72 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA382913120
rs1592042191
73 V>G No Ensembl
ClinGen
rs374336321
CA6310681
73 V>L No ClinGen
ESP
ExAC
TOPMed
CA382913130
rs1359523573
74 R>Q No ClinGen
TOPMed
rs1592042225
CA382913141
75 E>G No Ensembl
ClinGen
rs782402353
CA6310683
75 E>K No ExAC
TOPMed
gnomAD
ClinGen
CA382913172
rs1216091161
78 S>N No ClinGen
gnomAD
CA6310684
rs368727870
79 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA229639088
rs1044681005
80 G>R No TOPMed
gnomAD
ClinGen
CA382913239
rs1242228685
83 T>M No gnomAD
ClinGen
CA229639104
rs1013120401
84 V>A No Ensembl
ClinGen
rs1179773060
CA382913243
84 V>M No gnomAD
ClinGen
CA229639107
rs1016843588
85 L>P No TOPMed
ClinGen
CA229639147
rs372399464
86 Y>* No ESP
TOPMed
ClinGen
CA382913265
rs1374906177
86 Y>H No ClinGen
TOPMed
rs781789455
CA6310687
86 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA382913286
rs1166977129
87 G>A No gnomAD
ClinGen
rs782050456
CA382913280
87 G>R No ExAC
TOPMed
gnomAD
ClinGen
rs782050456
CA6310688
87 G>W No ExAC
TOPMed
gnomAD
ClinGen
rs552070057
CA6310689
88 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1446073278
CA382913329
91 E>G No ClinGen
TOPMed
gnomAD
rs782135781
CA6310692
92 H>Q No ExAC
gnomAD
ClinGen
rs782765437
CA6310693
93 L>P No ClinGen
ExAC
gnomAD
CA382913381
rs1329036916
94 A>S No ClinGen
gnomAD
rs782100370
CA6310709
99 K>T No ClinGen
ExAC
gnomAD
rs140617350
CA6310710
102 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA6310712
rs373436467
103 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6310711
rs781938150
103 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs782816552
CA6310713
105 F>L No ClinGen
ExAC
gnomAD
rs1329813775
CA382913703
106 W>* No TOPMed
gnomAD
ClinGen
CA229639564
rs1006668326
107 W>* No TOPMed
ClinGen
rs1440820230
CA382913734
107 W>* No ClinGen
gnomAD
rs977907421
CA229639570
111 A>T No Ensembl
ClinGen
rs1301986103
CA382913873
112 E>D No TOPMed
gnomAD
ClinGen
rs1312142717
CA382913883
113 V>F No TOPMed
ClinGen
rs1316473732
CA382913908
114 Q>H No gnomAD
ClinGen
TCGA novel 115 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6310715
rs782126485
116 K>T No ExAC
ClinGen
CA382913959
rs1273748323
117 E>Q No TOPMed
ClinGen
rs141547874
CA229639576
118 K>* No ClinGen
ESP
rs782756241
CA6310716
119 F>L No ClinGen
ExAC
gnomAD
CA229639583
rs782447292
121 V>F No ClinGen
gnomAD
CA382914045
rs782447292
121 V>I No gnomAD
ClinGen
rs1196110844
CA382914090
123 P>S No ClinGen
gnomAD
CA382914140
rs1274895986
125 D>N No gnomAD
ClinGen
CA6310719
rs375803206
128 R>* No ESP
ExAC
gnomAD
ClinGen
rs1160272095
CA382917289
129 F>L No TOPMed
ClinGen
CA382917298
rs1317567796
130 K>R No TOPMed
gnomAD
ClinGen
CA6310743
rs199859594
131 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1260036760
CA382917387
133 M>I No ClinGen
TOPMed
gnomAD
CA382917382
rs1211882965
133 M>T No ClinGen
gnomAD
rs782564969
CA6310745
133 M>V No ClinGen
ExAC
gnomAD
rs1378157960
CA382917411
134 V>A No TOPMed
ClinGen
rs1565667385
CA382917430
136 G>R No ClinGen
Ensembl
TCGA novel 136 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs973574569
CA229653615
138 D>G No ClinGen
Ensembl
rs920308063
CA229653646
139 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs189873299
CA6310747
140 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs189873299
CA382917542
140 Y>F No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA6310748
rs782655248
141 E>G No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 143 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA229653668
rs983112742
144 E>K No TOPMed
gnomAD
ClinGen
CA382917706
rs983112742
144 E>Q No ClinGen
TOPMed
gnomAD
CA229653671
rs911845324
145 D>N No ClinGen
TOPMed
TCGA novel 149 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6310750
rs782350954
150 E>A No ClinGen
ExAC
rs550351597
CA229653676
150 E>Q No ClinGen
1000Genomes
CA6310776
rs781932545
152 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs995447159
CA229654168
153 A>T No ClinGen
Ensembl
CA382918242
rs1309697430
154 Q>P No gnomAD
ClinGen
rs202215150
CA6310778
156 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs782301681
CA6310779
156 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA382918369
rs1592073074
158 V>G No Ensembl
ClinGen
rs782128788
CA6310780
158 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA229654207
rs782016648
161 S>N No ClinGen
gnomAD
CA6310782
rs200584267
161 S>R No 1000Genomes
ExAC
gnomAD
ClinGen
rs1419960688
CA382918465
162 R>* No ClinGen
gnomAD
rs369310743
CA6310783
162 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782719153
CA6310784
163 Q>H No ExAC
gnomAD
ClinGen
CA382918513
rs1461926206
164 E>D No TOPMed
gnomAD
ClinGen
rs781908854
CA6310785
164 E>Q No ClinGen
ExAC
rs782647917
CA6310786
164 E>V No ClinGen
ExAC
gnomAD
CA382918555
rs1592073154
165 V>G No Ensembl
ClinGen
rs1452130998
CA382918580
166 V>A No ClinGen
TOPMed
rs782655675
CA6310787
166 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA6310790
rs782492332
167 R>L No ExAC
TOPMed
gnomAD
ClinGen
COSM1200064
CA6310789
rs782492332
167 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6310788
COSM131121
rs781857579
167 R>W liver [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs782306579
CA6310792
168 S>Y No ExAC
gnomAD
ClinGen
CA382918677
rs782271351
170 L>* No ClinGen
ExAC
gnomAD
CA6310793
rs782690439
170 L>I No ExAC
gnomAD
ClinGen
rs782271351
CA6310794
170 L>S No ClinGen
ExAC
gnomAD
CA6310815
rs782236727
172 P>L No ExAC
gnomAD
ClinGen
CA382918968
rs1226495293
174 A>G No TOPMed
ClinGen
rs1231053757
CA382918992
175 V>L No gnomAD
ClinGen
CA6310816
rs782479215
176 P>A No ExAC
gnomAD
ClinGen
CA6310817
rs145295890
177 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1177787213
CA382919034
177 D>N No ClinGen
gnomAD
CA6310819
rs782193641
178 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs782193641
CA6310818
178 P>T No ExAC
TOPMed
gnomAD
ClinGen
CA382919071
rs1565668681
179 E>K No Ensembl
ClinGen
rs1397667999
CA382919150
181 G>V No ClinGen
TOPMed
rs1327297487
CA382919236
185 P>R No gnomAD
ClinGen
CA382919233
rs1416567961
185 P>S No gnomAD
ClinGen
rs782023120
CA6310821
188 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA6310822
rs782265485
192 N>H No ExAC
gnomAD
ClinGen
rs782448786
CA229658401
194 Q>H No ClinGen
ExAC
gnomAD
CA382919905
rs1592075422
195 V>A No Ensembl
ClinGen
rs147652491
CA6310836
195 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1467102265
CA382919926
196 A>G No gnomAD
ClinGen
CA6310837
rs782285037
196 A>T No ExAC
gnomAD
ClinGen
rs1565668906
CA382919937
197 S>C No Ensembl
ClinGen
rs1565668906
CA382919936
197 S>Y No ClinGen
Ensembl
rs782524411
CA6310839
199 L>F No ExAC
TOPMed
gnomAD
ClinGen
rs1438385143
CA382919989
200 Q>* No ClinGen
TOPMed
CA382920036
rs1565668956
201 Q>* No ClinGen
Ensembl
rs782632466
CA6310840
203 S>L No ClinGen
ExAC
gnomAD
rs782340360
CA382920119
205 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA382920160
rs1592075516
206 D>A No Ensembl
ClinGen
rs1041006327
CA229658430
210 A>T No ClinGen
TOPMed
gnomAD
rs1416247205
CA382920249
212 E>G No ClinGen
gnomAD
CA6310844
rs781940512
212 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA382920313
rs1189245923
215 W>* No TOPMed
ClinGen
CA382920324
rs1324580527
216 M>L No ClinGen
TOPMed
gnomAD
CA382920321
rs1324580527
216 M>V No ClinGen
TOPMed
gnomAD
CA382920390
rs1390891414
218 T>K No gnomAD
ClinGen
rs535130498
CA6310845
220 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA382920433
rs1315868025
221 S>F No gnomAD
ClinGen
rs1325626359
CA382920459
223 T>R No gnomAD
ClinGen
rs782426189
CA6310846
224 F>L No ExAC
gnomAD
ClinGen
CA6310847
rs782017698
225 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA6310848
rs782017698
225 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA229658440
rs782758434
225 I>V No Ensembl
ClinGen
CA382920507
rs1232622451
226 G>D No TOPMed
gnomAD
ClinGen
CA382920515
rs1358608182
227 H>N No TOPMed
gnomAD
ClinGen
CA382920526
rs1298808550
227 H>R No TOPMed
ClinGen
rs781960489 228 Q>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6310884
rs563859324
229 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA382920713
rs1253482551
230 I>V No TOPMed
ClinGen
rs1377797305
CA382920725
231 P>T No gnomAD
ClinGen
CA382920752
rs1242582285
233 V>I No gnomAD
ClinGen
rs1260361812
CA382920781
235 N>D No TOPMed
ClinGen
CA382920786
rs76783804
235 N>S No ExAC
gnomAD
ClinGen
CA6310885
rs76783804
235 N>T No ExAC
gnomAD
ClinGen
CA6310888
rs782488014
237 H>R No ClinGen
ExAC
gnomAD
CA229659742
rs200747735
238 S>L No ClinGen
1000Genomes
TOPMed
rs782184217
CA6310931
240 A>D No ExAC
gnomAD
ClinGen
CA382921410
rs1437413390
240 A>T No ClinGen
gnomAD
CA6310932
rs782421169
242 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs600648
VAR_029848
CA229661625
244 W>G No ClinGen
UniProt
Ensembl
dbSNP
rs782018753
CA6310933
246 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs375235213
CA229661627
246 I>N No ESP
TOPMed
ClinGen
rs560685835
CA229661629
247 Q>K No 1000Genomes
TOPMed
ClinGen
CA382921529
rs1226508896
248 D>N No ClinGen
TOPMed
rs143147723
CA6310935
249 E>D No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA382921552
rs1320566609
249 E>K No TOPMed
gnomAD
ClinGen
TCGA novel 251 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6310938
rs781967187
252 I>S No ClinGen
ExAC
gnomAD
rs1320663036
CA382921595
252 I>V No ClinGen
gnomAD
CA382921627
rs1484691160
254 G>E No ClinGen
gnomAD
rs782077969
CA6310939
254 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA382921652
rs527738305
256 Q>* No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs527738305
CA6310940
256 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6310941
rs527738305
256 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6310942
rs552747259
256 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA6310943
rs782791132
257 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs371797960
CA229661681
258 I>R No ClinGen
TOPMed
CA229661676
rs371797960
258 I>T No TOPMed
ClinGen
CA382921705
rs1184656764
259 G>E No ClinGen
TOPMed
CA6310946
CA229661690
rs782502920
259 G>R No ExAC
TOPMed
gnomAD
ClinGen
rs1343618505
CA382921711
260 P>T No ClinGen
gnomAD
CA6310948
rs781811320
261 S>F No ClinGen
ExAC
gnomAD
rs782437414
COSM923694
CA6310949
264 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
TCGA novel 265 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA382921836
rs1413470102
266 L>F No gnomAD
ClinGen
CA382921833
COSM428528
rs1413470102
266 L>V Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA382921843
rs899354415
267 K>* No ClinGen
TOPMed
gnomAD
CA229661695
rs899354415
267 K>E No TOPMed
gnomAD
ClinGen
rs370905829
CA6310952
268 E>G No ClinGen
ESP
TOPMed
gnomAD
rs782685571
CA6310951
268 E>K No ClinGen
ExAC
gnomAD
rs370905829
CA382921889
268 E>V No ESP
TOPMed
gnomAD
ClinGen
CA229661705
rs782423969
269 K>Q No ClinGen
Ensembl
CA382922685
rs1295922796
270 E>K No ClinGen
TOPMed
CA229661911
rs1008873254
271 K>E No ClinGen
TOPMed
rs975544597
CA229661914
271 K>R No TOPMed
gnomAD
ClinGen
rs1555187647
CA6310994
272 Q>H No ClinGen
Ensembl
CA232401
RCV000122595
rs386352288
272 Q>R No ClinGen
ClinVar
Ensembl
dbSNP
rs1220864017
CA382922867
273 K>R No ClinGen
gnomAD
CA6310998
rs782404744
274 L>V No ExAC
TOPMed
gnomAD
ClinGen
CA229661928
rs964767391
277 L>I No TOPMed
gnomAD
ClinGen
rs782120998
CA6311000
277 L>P No ClinGen
ExAC
TOPMed
TCGA novel 278 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA229661930
rs868712764
278 P>T No Ensembl
ClinGen
rs781823420
CA6311002
279 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs781823420
CA6311003
279 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs373690810
CA6311001
279 P>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs782705067
CA6311004
280 D>E No ExAC
gnomAD
ClinGen
CA382923049
rs1448653955
280 D>H No ClinGen
TOPMed
rs1214317268 280 D>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 280 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6311005
rs367702790
281 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371758182
CA382923073
281 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6311006
rs371758182
281 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs782477975
CA6311009
282 V>A No ExAC
gnomAD
ClinGen
rs782477975
CA382923111
282 V>G No ExAC
gnomAD
ClinGen
CA6311008
rs543989276
282 V>I No 1000Genomes
ExAC
gnomAD
ClinGen
rs1489079752
CA382923115
283 G>R No ClinGen
gnomAD
rs1209660225
CA382923166
284 A>V No ClinGen
gnomAD
rs782424650
CA382923225
286 F>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs782424650
CA6311012
286 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1276105829
CA382923381
291 R>S No gnomAD
ClinGen
CA382923428
rs1178800001
293 S>R No ClinGen
gnomAD
CA382923476
rs1272926948
295 G>D No ClinGen
TOPMed
rs782382177
CA6311015
297 L>P No ExAC
TOPMed
gnomAD
ClinGen
rs781970005
CA6311016
299 S>A No ClinGen
ExAC
gnomAD
TCGA novel 300 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1379155736
CA382923558
300 F>Y No gnomAD
ClinGen
rs782081346
CA6311017
302 R>C No ExAC
TOPMed
gnomAD
ClinGen
rs782325490
CA6311018
302 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs782325490
CA6311019
302 R>P No ExAC
TOPMed
gnomAD
ClinGen
rs1191430788
CA382923631
303 V>I No TOPMed
gnomAD
ClinGen
rs782778637
CA6311021
304 W>R No ExAC
gnomAD
ClinGen
CA6311023
rs782106751
305 N>K No ExAC
gnomAD
ClinGen
rs150323701
CA6311022
305 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200160466
CA6311024
308 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6311025
rs782098408
308 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA6311026
rs137880438
309 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1164892799
CA382923735
310 W>* No TOPMed
ClinGen
rs1296094282
CA382923770
311 Q>H No ClinGen
TOPMed
gnomAD
CA6311028
rs782818395
313 R>G No ExAC
gnomAD
ClinGen
CA229661995
rs941039501
313 R>K No ClinGen
TOPMed
CA6311052
rs377583343
314 H>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA382923944
rs1220020580
317 K>R No TOPMed
ClinGen
TCGA novel 318 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782677187
CA6311056
320 A>T No ExAC
gnomAD
ClinGen
rs1256236275
CA382924011
320 A>V No ClinGen
gnomAD
CA6311057
rs200262306
321 A>V No ExAC
gnomAD
ClinGen
CA6311058
rs568817363
322 A>G No 1000Genomes
ExAC
gnomAD
ClinGen
rs1176255213
CA382924034
322 A>T No ClinGen
gnomAD
rs782223204
CA6311061
323 M>I No ExAC
gnomAD
ClinGen
rs1565673790
CA382924058
323 M>K No ClinGen
Ensembl
CA6311059
rs181791793
323 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs186379534
CA6311062
324 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6311063
rs781934290
325 K>Q No ExAC
TOPMed
gnomAD
ClinGen
CA6311064
rs782292570
326 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs996009597
CA229662052
327 S>P No Ensembl
ClinGen
CA382924201
CA6311069
rs782124473
330 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs782013262
CA6311068
330 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA6311070
rs782367365
331 K>R No ExAC
gnomAD
ClinGen
TCGA novel 332 S>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781792161
CA6311065
333 S>C No ExAC
TOPMed
gnomAD
ClinGen
CA382924247
rs375684853
333 S>S No ClinGen
ESP
ExAC
gnomAD

No associated diseases with Q86UT8

No regional properties for Q86UT8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q86UT8

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Localizes to the proximal end of the mother centriole
  • During the cell cycle, from G1 to metaphase, gradually accumulates on the centrosome and then decreased significantly upon entry into anaphase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name Definition
negative regulation of centrosome duplication Any process that decreases the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized.
regulation of protein catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q4VA36 Cenatac Centrosomal AT-AC splicing factor Mus musculus (Mouse) PR
10 20 30 40 50 60
MAPAQRCPLC RQTFFCGRGH VYSRKHQRQL KEALERLLPQ VEAARKAIRA AQVERYVPEH
70 80 90 100 110 120
ERCCWCLCCG CEVREHLSHG NLTVLYGGLL EHLASPEHKK ATNKFWWENK AEVQMKEKFL
130 140 150 160 170 180
VTPQDYARFK KSMVKGLDSY EEKEDKVIKE MAAQIREVEQ SRQEVVRSVL EPQAVPDPEE
190 200 210 220 230 240
GSSAPRSWKG MNSQVASSLQ QPSNLDLPPA PELDWMETGP SLTFIGHQDI PGVGNIHSGA
250 260 270 280 290 300
TPPWMIQDEE YIAGNQEIGP SYEEFLKEKE KQKLKKLPPD RVGANFDHSS RTSAGWLPSF
310 320 330
GRVWNNGRRW QSRHQFKTEA AAMKKQSHTE KS