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 Q86XF7

Entry ID Method Resolution Chain Position Source
AF-Q86XF7-F1 Predicted AlphaFoldDB

269 variants for Q86XF7

Variant ID(s) Position Change Description Diseaes Association Provenance
CA406185251
rs1429813746
3 E>* No ClinGen
gnomAD
CA406185257
rs1309793734
4 R>G No ClinGen
gnomAD
rs745764744
CA9488015
COSM3823309
4 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs970170804
CA308760059
5 G>S No ClinGen
gnomAD
rs527778849
CA406185268
6 A>E No ClinGen
1000Genomes
ExAC
gnomAD
CA9488018
rs760237290
6 A>T No ClinGen
ExAC
gnomAD
rs527778849
CA9488019
6 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA9488021
rs762142222
7 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs776405135
CA9488020
7 E>K No ClinGen
ExAC
gnomAD
CA406185273
rs762142222
7 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA9488022
rs765628762
8 S>A No ClinGen
ExAC
gnomAD
CA406185283
rs1277403241
9 A>S No ClinGen
gnomAD
CA308760144
rs773518565
9 A>V No ClinGen
Ensembl
CA308760188
rs922261028
11 G>W No ClinGen
TOPMed
rs989888451
CA308760191
12 A>D No ClinGen
TOPMed
gnomAD
rs766918946
CA406185319
12 A>S No ClinGen
ExAC
gnomAD
rs766918946
COSM190332
CA9488025
12 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA406185322
rs989888451
12 A>V No ClinGen
TOPMed
gnomAD
rs1449550773
CA406185335
13 T>P No ClinGen
gnomAD
CA406185354
rs1341947333
14 D>N No ClinGen
TOPMed
rs1165360280
CA406185375
15 P>H No ClinGen
gnomAD
CA406185369
rs1404746486
15 P>S No ClinGen
gnomAD
rs781251207
CA9488029
16 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1318796388
CA406185406
17 P>S No ClinGen
gnomAD
rs753011990
CA9488030
18 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA9488031
rs756440380
18 T>I No ClinGen
ExAC
gnomAD
rs941154325
COSM1481166
CA308760230
22 P>R Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1247066520
CA406185573
26 E>D No ClinGen
gnomAD
CA406185566
rs1214010736
26 E>G No ClinGen
gnomAD
rs771839769
CA9488035
26 E>K No ClinGen
ExAC
gnomAD
CA406185676
rs1468490016
28 P>A No ClinGen
TOPMed
gnomAD
rs1600031165
CA406185698
29 H>P No ClinGen
Ensembl
rs1412488472
CA406185832
37 S>N No ClinGen
gnomAD
rs985114697
CA308760728
37 S>R No ClinGen
Ensembl
rs1366785329
CA406185872
39 S>L No ClinGen
TOPMed
gnomAD
rs1473447201
CA406185879
40 A>P No ClinGen
gnomAD
rs541167010
CA9488046
42 G>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 42 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9488047
rs759506363
43 P>L No ClinGen
ExAC
gnomAD
rs1360948288
CA406185955
45 A>E No ClinGen
gnomAD
rs1360948288
CA406185953
45 A>G No ClinGen
gnomAD
CA406185947
rs1334860655
45 A>P No ClinGen
TOPMed
gnomAD
CA406185945
rs1334860655
45 A>T No ClinGen
TOPMed
gnomAD
rs1360948288
CA406185951
45 A>V No ClinGen
gnomAD
rs1374777473
CA406185965
46 S>Y No ClinGen
TOPMed
CA406185981
rs1446297510
47 A>G No ClinGen
TOPMed
CA406185974
rs1300194091
47 A>T No ClinGen
TOPMed
rs1446297510
CA406185983
47 A>V No ClinGen
TOPMed
rs374781386
CA9488050
50 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA308760810
rs967013378
51 P>L No ClinGen
TOPMed
rs756350661
CA9488051
51 P>T No ClinGen
ExAC
TOPMed
CA9488052
rs778145408
52 R>Q No ClinGen
ExAC
gnomAD
rs1343795656
CA406186021
53 P>S No ClinGen
gnomAD
CA406186030
rs1200552042
54 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1280188145
CA406186033
55 R>G No ClinGen
TOPMed
gnomAD
rs1280188145
CA406186034
55 R>W No ClinGen
TOPMed
gnomAD
CA9488053
rs750239924
56 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1252431713
CA406186043
57 P>A No ClinGen
TOPMed
gnomAD
rs1252431713
CA406186044
57 P>S No ClinGen
TOPMed
gnomAD
CA406186042
rs1252431713
57 P>T No ClinGen
TOPMed
gnomAD
CA9488056
rs369065915
58 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199846217
CA9488055
COSM4131986
58 P>S thyroid [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1555767033
CA406186066
59 P>S No ClinGen
Ensembl
CA406186092
rs768507012
61 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9488057
rs768507012
61 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA9488058
rs372606320
62 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406186106
rs372606320
62 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406186108
rs372606320
62 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1456152481
CA406186124
63 H>Q No ClinGen
gnomAD
rs1307978957
CA406186115
63 H>Y No ClinGen
gnomAD
rs747667451
CA9488059
64 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs910855145
CA406186160
66 P>H No ClinGen
Ensembl
rs910855145
CA308760852
66 P>L No ClinGen
Ensembl
CA9488060
rs769365877
66 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA9488063
rs375927172
67 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA308760868
rs370571946
68 C>R No ClinGen
ESP
TOPMed
gnomAD
rs1276245003
CA406186212
70 K>Q No ClinGen
gnomAD
rs774613560
CA9488066
71 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA9488065
rs774613560
71 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs775644996
CA9488068
72 F>S No ClinGen
ExAC
gnomAD
CA9488067
rs767927673
72 F>V No ClinGen
ExAC
gnomAD
CA9488069
rs760905964
75 P>S No ClinGen
ExAC
gnomAD
CA308760896
rs866347256
80 T>A No ClinGen
Ensembl
CA9488071
rs754164879
80 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA406186432
rs758096029
81 H>N No ClinGen
ExAC
gnomAD
CA9488072
rs758096029
81 H>Y No ClinGen
ExAC
gnomAD
rs1167991571
CA406186461
82 R>C No ClinGen
gnomAD
rs1391346213
CA406186462
82 R>H No ClinGen
gnomAD
rs1162634451
CA406186481
83 L>* No ClinGen
TOPMed
rs1161945001
CA406186485
83 L>F No ClinGen
TOPMed
gnomAD
rs1390547291
CA406186510
85 H>D No ClinGen
gnomAD
rs907911175
CA308760932
85 H>Q No ClinGen
TOPMed
gnomAD
rs751333442
CA9488074
86 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs766156324
CA9488073
86 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs754887004
CA9488075
88 A>T No ClinGen
ExAC
gnomAD
CA406186570
rs1568507257
88 A>V No ClinGen
Ensembl
CA406186578
rs1259931244
89 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA308760953
rs1040486624
90 P>S No ClinGen
TOPMed
CA308760963
rs867493067
91 H>Y No ClinGen
Ensembl
rs1343640612
CA406186641
92 P>L No ClinGen
TOPMed
gnomAD
CA406186684
rs1219973766
94 P>L No ClinGen
TOPMed
rs1262603813
CA406186675
94 P>S No ClinGen
TOPMed
CA9488077
rs747649150
95 D>E No ClinGen
ExAC
gnomAD
rs141800849
CA9488076
95 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs141800849
CA308760971
95 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1356806015
CA406186712
96 C>R No ClinGen
gnomAD
CA9488079
rs777378918
97 P>S No ClinGen
ExAC
gnomAD
CA308760984
rs866525238
99 A>S No ClinGen
TOPMed
CA406186764
rs866525238
99 A>T No ClinGen
TOPMed
CA406186775
rs1316169546
99 A>V No ClinGen
TOPMed
CA406186790
rs1294438278
100 F>L No ClinGen
TOPMed
CA9488081
rs150616280
100 F>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9488080
rs141825879
100 F>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1382259845
CA406186806
101 S>P No ClinGen
TOPMed
CA406186830
rs1363415479
102 Y>C No ClinGen
TOPMed
rs1248763221
CA406186843
103 P>S No ClinGen
gnomAD
rs774723566
CA406186859
104 S>A No ClinGen
ExAC
gnomAD
CA9488084
rs746227238
104 S>F No ClinGen
ExAC
gnomAD
CA9488083
rs774723566
104 S>T No ClinGen
ExAC
gnomAD
rs1458737688
CA406186918
107 A>V No ClinGen
gnomAD
CA406186931
rs1165316872
108 A>V No ClinGen
gnomAD
rs201054447
CA9488085
COSM3692837
110 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs566145753
CA9488086
110 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9488087
rs528658004
111 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA406186995
rs1393735832
112 T>M No ClinGen
TOPMed
gnomAD
TCGA novel 113 H>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA308761070
rs868491577
114 S>R No ClinGen
Ensembl
rs776880800
CA9488089
115 G>D No ClinGen
ExAC
rs1340947511
CA406187029
115 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs866041359
CA406187041
116 A>S No ClinGen
gnomAD
rs866041359
CA308761105
116 A>T No ClinGen
gnomAD
rs1192700415
CA406187047
116 A>V No ClinGen
TOPMed
rs762044331
CA9488092
117 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs762044331
CA406187057
117 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs751302181
CA9488094
118 P>L No ClinGen
ExAC
gnomAD
CA9488095
rs751302181
118 P>R No ClinGen
ExAC
gnomAD
CA9488093
rs765391464
118 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1197447913
CA406187073
119 H>L No ClinGen
TOPMed
CA406187078
rs767425208
119 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs866892041
CA308761118
119 H>Y No ClinGen
Ensembl
CA406187089
rs1198734395
120 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1198734395
CA406187090
120 P>R No ClinGen
TOPMed
gnomAD
rs1424951791
CA406187101
121 C>Y No ClinGen
TOPMed
gnomAD
rs1243237039
CA406187112
122 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 124 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA308761168
rs373118540
124 C>Y No ClinGen
ESP
rs139734998
CA9488101
127 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756871332
CA9488102
129 G>D No ClinGen
ExAC
gnomAD
CA308761188
rs1041945678
129 G>S No ClinGen
TOPMed
gnomAD
rs149796259
CA9488103
131 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746230424
CA9488104
131 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA406187248
rs1228718588
132 S>A No ClinGen
gnomAD
rs1289222156
CA406187271
134 L>V No ClinGen
gnomAD
CA9488106
rs780677737
135 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs747476632
CA9488107
137 H>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 138 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1395471546
CA406187327
138 L>P No ClinGen
TOPMed
CA406187378
rs1213720444
142 A>P No ClinGen
gnomAD
rs865820549
CA406187401
144 T>A No ClinGen
TOPMed
gnomAD
rs865820549
CA308761240
144 T>P No ClinGen
TOPMed
gnomAD
rs1183300843
CA406187419
145 R>C No ClinGen
TOPMed
gnomAD
CA9488108
rs769307860
145 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA406187424
rs769307860
145 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA406187467
rs1436026275
147 Y>F No ClinGen
gnomAD
CA406187456
rs1377761721
147 Y>H No ClinGen
TOPMed
gnomAD
rs1436026275
CA406187469
147 Y>S No ClinGen
gnomAD
TCGA novel 149 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1410239313
CA406187518
149 C>W No ClinGen
gnomAD
rs1320340881
CA406187522
150 P>T No ClinGen
TOPMed
gnomAD
CA406187544
rs1365189071
151 D>H No ClinGen
TOPMed
gnomAD
rs1365189071
CA406187542
151 D>N No ClinGen
TOPMed
gnomAD
CA9488110
rs761803419
152 C>R No ClinGen
ExAC
gnomAD
CA406187609
rs1250243649
154 K>Q No ClinGen
TOPMed
CA308761280
rs200449716
155 S>A No ClinGen
Ensembl
rs376747015
CA9488111
155 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9488112
rs773361553
157 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs1600032157
CA406187701
157 C>S No ClinGen
Ensembl
CA406187710
rs1260890769
158 Y>H No ClinGen
TOPMed
CA406187724
rs1277332934
159 P>S No ClinGen
gnomAD
CA406187746
rs1600032187
161 K>Q No ClinGen
Ensembl
CA406187763
rs1226481292
162 L>M No ClinGen
TOPMed
rs767338863
CA9488114
163 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA308761317
rs570329930
164 A>D No ClinGen
gnomAD
CA406187792
rs570329930
164 A>V No ClinGen
gnomAD
rs760551509
CA406187801
165 H>P No ClinGen
ExAC
gnomAD
rs760551509
CA9488116
165 H>R No ClinGen
ExAC
gnomAD
CA9488115
rs752513206
165 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA406187810
rs1267541458
166 R>C No ClinGen
gnomAD
rs1555767137
CA9488117
168 T>R No ClinGen
Ensembl
CA406187869
rs1600032286
170 H>P No ClinGen
Ensembl
CA406187863
rs1166126521
170 H>Y No ClinGen
gnomAD
COSM1394286
CA9488121
rs756776103
174 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA406187927
rs1430050737
175 R>C No ClinGen
TOPMed
CA9488122
rs778606721
175 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA406187948
rs1435423166
177 Y>H No ClinGen
gnomAD
rs769218154
CA9488127
179 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA9488125
rs780516124
179 C>R No ClinGen
ExAC
gnomAD
CA406187991
rs769218154
179 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA9488126
rs747390626
179 C>Y No ClinGen
ExAC
gnomAD
CA9488131
rs773450105
181 H>L No ClinGen
ExAC
gnomAD
CA9488130
rs373389943
181 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs145264344
CA9488132
185 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406188145
rs1221209174
187 S>* No ClinGen
gnomAD
CA406188192
rs1265695011
189 P>L No ClinGen
TOPMed
gnomAD
CA406188197
rs1198280196
190 S>P No ClinGen
gnomAD
rs1054688211
CA308761451
191 K>N No ClinGen
Ensembl
rs1186246337
CA406188215
191 K>Q No ClinGen
gnomAD
rs1246952853
CA406188223
191 K>R No ClinGen
gnomAD
rs764083929
CA9488136
193 A>P No ClinGen
ExAC
gnomAD
rs1411454776
CA406188271
194 A>T No ClinGen
gnomAD
rs1165161580
CA406188335
197 L>P No ClinGen
gnomAD
rs962086291
CA308761479
198 C>* No ClinGen
TOPMed
CA9488138
rs376173848
198 C>R No ClinGen
ESP
ExAC
gnomAD
CA9488139
rs764615050
198 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1568507694
CA406188399
200 D>G No ClinGen
Ensembl
CA406188441
rs1272433112
202 P>L No ClinGen
gnomAD
CA406188432
rs1431495755
202 P>T No ClinGen
TOPMed
gnomAD
CA406188454
rs751963732
203 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9488145
rs751963732
203 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA9488144
rs779853529
203 T>S No ClinGen
ExAC
gnomAD
rs200619245
CA308761544
204 A>E No ClinGen
1000Genomes
ExAC
gnomAD
CA308761538
rs201779746
204 A>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs200619245
CA9488147
204 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs748641238
CA9488149
205 P>S No ClinGen
ExAC
gnomAD
CA9488150
rs201519815
206 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs201519815
CA9488151
206 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9488152
rs749376716
207 S>G No ClinGen
ExAC
gnomAD
rs1017971278
CA308761578
207 S>R No ClinGen
gnomAD
rs142034742
CA9488153
209 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 209 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406188659
rs746788767
210 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs746788767
CA9488156
210 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs768379607
CA9488157
211 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs768379607
CA406188683
211 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA406188771
rs1357478976
214 R>* No ClinGen
gnomAD
rs761609288
CA9488159
216 S>F No ClinGen
ExAC
gnomAD
rs374968700
CA9488158
216 S>T No ClinGen
ESP
ExAC
gnomAD
CA9488160
rs765230902
219 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1600032582
CA406188964
220 Q>R No ClinGen
Ensembl
rs1212979946
CA406188989
221 A>D No ClinGen
TOPMed
CA406189014
rs1600032592
222 F>L No ClinGen
Ensembl
rs1287362542
CA406189025
222 F>S No ClinGen
gnomAD
CA406189083
rs1445952386
224 Q>R No ClinGen
TOPMed
CA406189099
rs1600032611
225 R>G No ClinGen
Ensembl
rs1225095150
CA406189136
226 R>H No ClinGen
TOPMed
gnomAD
rs1275945869
CA406189150
227 L>* No ClinGen
gnomAD
CA9488165
rs762614966
229 L>P No ClinGen
ExAC
gnomAD
TCGA novel 232 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9488166
rs544058514
233 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9488167
rs751305496
233 R>H No ClinGen
ExAC
gnomAD
CA406189307
rs1181138553
234 S>N No ClinGen
TOPMed
gnomAD
CA9488168
rs181113567
235 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406189328
rs1401233943
235 H>Y No ClinGen
TOPMed
gnomAD
CA406189379
rs1411533290
236 H>Q No ClinGen
gnomAD
CA406189374
rs1325907640
236 H>R No ClinGen
TOPMed
rs865862071
CA308761660
237 Q>* No ClinGen
gnomAD
rs865862071
CA406189401
237 Q>E No ClinGen
gnomAD
rs763342413
CA308761679
238 V>E No ClinGen
gnomAD
rs763342413
CA406189452
238 V>G No ClinGen
gnomAD
rs1413923148
CA406189459
239 E>K No ClinGen
gnomAD
CA9488170
rs767732853
241 K>R No ClinGen
ExAC
TOPMed
CA9488172
rs756513094
CA406190260
242 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs151144919
CA9488176
244 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406190295
rs1336698602
COSM418204
244 R>T Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA9488178
rs779079849
245 D>G No ClinGen
ExAC
gnomAD
CA9488177
rs780763886
245 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA406190299
rs780763886
245 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA406190301
rs780763886
245 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA406190324
rs1282420777
246 D>W No ClinGen
gnomAD

No associated diseases with Q86XF7

3 regional properties for Q86XF7

Type Name Position InterPro Accession
domain Protein kinase domain 128 - 409 IPR000719
active_site Serine/threonine-protein kinase, active site 271 - 283 IPR008271
binding_site Protein kinase, ATP binding site 134 - 157 IPR017441

Functions

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

1 GO annotations of cellular component

Name Definition
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.

3 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.

1 GO annotations of biological process

Name Definition
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MLERGAESAA GATDPSPTGK EPVTKEAPHQ GPPQKPSQSA PGPTASAGSP PRPRRRPPPQ
70 80 90 100 110 120
RPHRCPDCDK AFSYPSKLAT HRLAHGGARP HPCPDCPKAF SYPSKLAAHR LTHSGARPHP
130 140 150 160 170 180
CPHCPKSFGH RSKLAAHLWT HAPTRPYPCP DCPKSFCYPS KLAAHRHTHH ATDARPYPCP
190 200 210 220 230 240
HCPKAFSFPS KLAAHRLCHD PPTAPGSQAT AWHRCSSCGQ AFGQRRLLLL HQRSHHQVEH
KGERD