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 O95067

Entry ID Method Resolution Chain Position Source
AF-O95067-F1 Predicted AlphaFoldDB

337 variants for O95067

Variant ID(s) Position Change Description Diseaes Association Provenance
CA271776808
rs773160088
2 A>E No ClinGen
Ensembl
rs1181647609
CA392635698
5 R>Q No ClinGen
gnomAD
rs763932078
CA7588517
8 T>M No ClinGen
ExAC
gnomAD
CA7588540
rs771676922
9 V>E No ClinGen
ExAC
gnomAD
CA7588539
rs771676922
9 V>G No ClinGen
ExAC
gnomAD
rs549586410
CA7588538
9 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs549586410
CA7588537
9 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392635865
rs1466186488
10 S>F No ClinGen
gnomAD
rs1399354319
CA392635871
11 S>I No ClinGen
gnomAD
rs1301930519
CA392635866
11 S>R No ClinGen
TOPMed
gnomAD
rs1399354319
CA392635870
11 S>T No ClinGen
gnomAD
CA392635875
rs1190805389
12 D>N No ClinGen
TOPMed
rs1445920601
CA392635893
14 E>G No ClinGen
TOPMed
rs760169940
CA392635897
15 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs760169940
CA7588541
15 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA392635908
rs1300429324
16 I>T No ClinGen
TOPMed
gnomAD
CA7588542
rs768589001
18 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA392635922
rs768589001
18 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs768589001
CA392635923
18 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs776514242
CA7588543
19 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs761620661
CA7588544
20 V>F No ClinGen
ExAC
gnomAD
CA392635936
rs1314338481
21 N>D No ClinGen
gnomAD
rs1314338481
CA392635934
21 N>H No ClinGen
gnomAD
CA271777100
rs983351370
22 S>P No ClinGen
gnomAD
CA392635948
rs1255638779
23 K>E No ClinGen
gnomAD
CA392635951
rs1566955173
23 K>R No ClinGen
Ensembl
rs751848817
CA7588546
24 V>I No ClinGen
ExAC
gnomAD
rs151299700
CA392635983
27 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767695563
CA7588548
28 V>A No ClinGen
ExAC
gnomAD
CA392635989
rs1464425381
29 T>P No ClinGen
gnomAD
rs1399705642
CA392636005
31 R>T No ClinGen
TOPMed
CA7588549
rs752722691
32 R>* No ClinGen
ExAC
gnomAD
TCGA novel 33 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7588550
rs367803778
39 G>A No ClinGen
ESP
ExAC
gnomAD
rs1174847062
CA392636078
42 V>D No ClinGen
gnomAD
CA7588552
rs778445498
43 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA392636090
rs1320696326
44 T>I No ClinGen
gnomAD
rs140527154
CA7588553
45 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7588554
rs150117081
46 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7588556
rs371888839
48 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA392636127
rs1300837527
50 A>V No ClinGen
gnomAD
rs138427426
CA7588582
53 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1406410155
CA392636168
54 Q>H No ClinGen
gnomAD
TCGA novel 55 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773159638
CA7588583
56 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1394327238
CA392636184
57 K>E No ClinGen
TOPMed
rs1432033469
CA392636187
57 K>R No ClinGen
gnomAD
CA392636191
rs1425747871
58 V>I No ClinGen
TOPMed
CA392636192
rs1425747871
58 V>L No ClinGen
TOPMed
rs1350175101
CA392636199
59 P>S No ClinGen
TOPMed
gnomAD
CA392636211
rs1399646925
61 Q>K No ClinGen
gnomAD
rs866249126
CA271777135
62 P>L No ClinGen
Ensembl
CA392636219
rs1566955249
62 P>S No ClinGen
Ensembl
CA7588588
rs146926787
65 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1021675271
CA271777138
65 T>P No ClinGen
Ensembl
CA392636246
rs1333981437
67 N>H No ClinGen
gnomAD
rs150253971
CA7588590
67 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7588589
rs138232014
67 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761914242
CA7588591
68 V>I No ClinGen
ExAC
gnomAD
CA7588592
rs765697847
69 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs200529135
CA7588593
70 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs11548098
CA271777143
75 T>A No ClinGen
Ensembl
CA392636302
rs1211826519
75 T>I No ClinGen
gnomAD
CA7588594
rs144091405
77 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201051714
CA7588595
80 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA392636385
rs1383989423
81 V>I No ClinGen
gnomAD
rs1451713966
CA392636398
82 Q>* No ClinGen
TOPMed
gnomAD
rs1451713966
CA392636394
82 Q>K No ClinGen
TOPMed
gnomAD
CA392636425
rs1169668571
83 M>T No ClinGen
gnomAD
rs1374301768
CA392636416
83 M>V No ClinGen
TOPMed
TCGA novel 84 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1336437839
CA392636504
88 P>S No ClinGen
gnomAD
rs1359750427
CA392636521
89 K>E No ClinGen
gnomAD
rs777331417
CA7588619
90 G>D No ClinGen
ExAC
gnomAD
CA7588622
rs778925803
93 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA7588623
rs778925803
93 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1209837582
CA392637872
94 T>S No ClinGen
gnomAD
rs1445628854
CA392637892
97 D>N No ClinGen
gnomAD
CA7588626
rs748353573
98 V>I No ClinGen
ExAC
gnomAD
rs139296509
CA7588630
100 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7588628
rs773329622
100 M>L No ClinGen
ExAC
gnomAD
CA7588629
rs16941036
VAR_022221
RCV000883792
100 M>T No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7588631
rs774800920
102 E>G No ClinGen
ExAC
gnomAD
rs1457847652
CA392637925
102 E>K No ClinGen
gnomAD
CA271778787
TCGA novel
rs749080700
103 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
CA7588632
rs759942264
103 E>K No ClinGen
ExAC
gnomAD
CA271778789
rs550919161
104 N>H No ClinGen
1000Genomes
TCGA novel 105 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767834376
CA7588633
106 C>F No ClinGen
ExAC
gnomAD
rs775189310
CA7588634
106 C>W No ClinGen
ExAC
gnomAD
CA7588635
rs760361771
108 A>G No ClinGen
ExAC
gnomAD
rs1330325494
CA392637963
108 A>T No ClinGen
gnomAD
rs865848383
CA271778793
109 F>L No ClinGen
Ensembl
CA392637972
rs1289843160
109 F>S No ClinGen
gnomAD
CA7588636
rs763591966
111 D>N No ClinGen
ExAC
gnomAD
CA7588637
rs144226046
112 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7588639
rs201147134
118 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1212173180
CA392638038
119 D>N No ClinGen
TOPMed
gnomAD
rs1270741723
CA392638048
120 I>T No ClinGen
TOPMed
rs536661238
CA7588640
121 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs758310424
CA392638064
122 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA392638066
rs1197466426
123 E>K No ClinGen
TOPMed
gnomAD
rs896571394
CA271778804
124 D>G No ClinGen
TOPMed
gnomAD
CA7588642
rs779994699
124 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 126 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1404809792
CA392638100
127 N>T No ClinGen
gnomAD
TCGA novel 133 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7588646
rs2306785
VAR_053052
135 V>I No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs2306785
CA271778813
135 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392638168
rs1364661031
136 K>N No ClinGen
gnomAD
rs1163806606
CA392638165
136 K>R No ClinGen
gnomAD
CA392638173
rs1370825940
137 D>E No ClinGen
gnomAD
rs534109952
CA7588648
137 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1422533351
CA392638169
137 D>N No ClinGen
gnomAD
CA7588647
rs534109952
137 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140205864
CA7588649
139 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7588650
rs772482349
140 Q>K No ClinGen
ExAC
gnomAD
CA7588651
rs775841822
140 Q>R No ClinGen
ExAC
gnomAD
rs1403060049
CA392638227
141 Y>H No ClinGen
TOPMed
CA7588652
rs760877193
144 Q>H No ClinGen
ExAC
gnomAD
CA392638286
rs1400116822
144 Q>R No ClinGen
Ensembl
rs776096009
CA7588654
145 L>Q No ClinGen
ExAC
gnomAD
CA7588655
rs761438863
146 E>D No ClinGen
ExAC
gnomAD
TCGA novel 147 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766450641
CA7588676
147 V>I No ClinGen
ExAC
gnomAD
rs143904498
CA7588677
148 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA392638445
rs767211640
150 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA7588679
rs767211640
150 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs979385275
CA271778881
152 N>K No ClinGen
Ensembl
rs200052341
CA392638492
153 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7588681
rs200052341
153 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779036918
CA7588683
154 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs779036918
CA7588682
154 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1488779179
CA392638496
154 H>Y No ClinGen
gnomAD
CA271778887
rs770999254
156 L>V No ClinGen
Ensembl
rs1188492078
CA392638552
157 D>Y No ClinGen
gnomAD
CA392638581
rs1451048568
159 R>G No ClinGen
gnomAD
CA392638608
rs758420783
160 D>A No ClinGen
ExAC
gnomAD
rs937993546
CA271778891
160 D>E No ClinGen
gnomAD
rs758420783
CA7588684
160 D>G No ClinGen
ExAC
gnomAD
rs148986291
CA7588685
161 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA392638631
rs1293701356
162 N>D No ClinGen
gnomAD
CA7588686
rs747445408
162 N>K No ClinGen
ExAC
gnomAD
COSM1373809
rs144432316
CA7588687
164 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7588689
rs748469810
165 M>V No ClinGen
ExAC
gnomAD
CA7588690
COSM1373810
rs759811496
166 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7588691
rs772960032
166 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7588692
rs762576167
167 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs759377590
CA7588695
170 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs770327276
CA7588693
CA7588694
170 V>L No ClinGen
ExAC
gnomAD
CA271778919
rs949483720
171 D>H No ClinGen
TOPMed
CA392638795
rs1279835665
172 W>* No ClinGen
TOPMed
rs200615810
CA7588697
174 V>G No ClinGen
ExAC
gnomAD
CA392638812
COSM470890
rs1433361474
174 V>I kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1433361474
CA392638814
174 V>L No ClinGen
TOPMed
gnomAD
rs765464570
CA7588699
175 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA392638818
rs765464570
175 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1161989994
CA392638825
176 V>I No ClinGen
gnomAD
CA271778927
rs370067045
179 K>* No ClinGen
ESP
CA392638883
rs1346382113
179 K>M No ClinGen
gnomAD
rs781621511
CA271778930
180 F>L No ClinGen
Ensembl
CA392638923
rs1453464199
181 R>S No ClinGen
gnomAD
TCGA novel 184 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7588700
rs750619117
185 E>K No ClinGen
ExAC
gnomAD
CA392638995
rs1361552374
186 T>A No ClinGen
gnomAD
rs779995640
CA392639036
188 Y>* No ClinGen
ExAC
gnomAD
rs1343702396
CA392639059
189 M>I No ClinGen
gnomAD
rs752169210
CA7588703
189 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1316318221
CA392639091
191 V>A No ClinGen
gnomAD
CA7588705
rs781678337
191 V>I No ClinGen
ExAC
gnomAD
TCGA novel 192 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392639123
rs1375249891
193 I>S No ClinGen
TOPMed
CA392639144
rs1366327766
194 M>I No ClinGen
gnomAD
rs770234668
CA7588707
194 M>T No ClinGen
ExAC
gnomAD
CA7588708
rs528221556
196 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392639168
rs528221556
196 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770530308
COSM963416
CA7588710
196 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1566956593
CA392639189
197 F>C No ClinGen
Ensembl
CA271778949
rs1048672738
199 Q>E No ClinGen
gnomAD
rs1383496240
CA392640327
200 V>A No ClinGen
gnomAD
rs1418290201
CA392640332
201 Q>R No ClinGen
TOPMed
rs1312589425
CA392640338
202 P>A No ClinGen
TOPMed
gnomAD
CA392640339
rs1312589425
202 P>S No ClinGen
TOPMed
gnomAD
CA392640347
rs1193933897
203 V>D No ClinGen
TOPMed
rs201177056
CA7588733
203 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1211667325
CA392640353
204 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7588736
rs750922699
205 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM700835
rs369137460
CA7588735
205 R>W lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA271779413
rs1055013442
206 K>R No ClinGen
TOPMed
CA392640372
rs1208472102
208 L>F No ClinGen
TOPMed
CA392640398
rs1283258181
211 V>G No ClinGen
TOPMed
CA392640402
rs1227439754
212 G>V No ClinGen
TOPMed
rs1419163021
CA392640401
212 G>W No ClinGen
gnomAD
CA392640419
rs150170652
215 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7588739
rs150170652
215 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774584434
CA7588740
215 A>V No ClinGen
ExAC
gnomAD
rs759584289
CA392640422
216 L>M No ClinGen
ExAC
gnomAD
rs759584289
CA7588741
216 L>V No ClinGen
ExAC
gnomAD
CA392640437
rs1434276500
218 L>F No ClinGen
TOPMed
rs1367074440
CA392640447
220 S>A No ClinGen
TOPMed
gnomAD
CA392640445
rs1367074440
220 S>T No ClinGen
TOPMed
gnomAD
CA7588742
rs767674929
223 E>D No ClinGen
ExAC
gnomAD
CA392640495
rs1325260353
226 F>S No ClinGen
TOPMed
CA392640504
rs1403420055
227 S>F No ClinGen
TOPMed
rs868377459
CA271779422
228 P>L No ClinGen
TOPMed
gnomAD
CA392640511
rs1566956992
229 N>D No ClinGen
Ensembl
CA392640513
rs1220618453
229 N>T No ClinGen
gnomAD
CA7588745
rs138629566
230 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756700202
CA7588744
230 I>V No ClinGen
ExAC
gnomAD
TCGA novel 231 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7588746
rs370687594
231 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM963417
rs531597901
CA7588747
232 D>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs778475417
CA7588748
233 F>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA271779436
rs371204713
235 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA7588752
rs779529323
236 I>V No ClinGen
ExAC
rs746467746
CA7588753
237 T>A No ClinGen
ExAC
gnomAD
CA271779442
rs951118216
238 D>N No ClinGen
TOPMed
gnomAD
rs200252030
CA271779445
239 N>D No ClinGen
1000Genomes
rs768589002
CA7588754
240 A>G No ClinGen
ExAC
gnomAD
CA7588755
rs143578095
242 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA7588757
rs547706416
244 S>T No ClinGen
1000Genomes
ExAC
gnomAD
CA392640625
rs1197137745
246 I>T No ClinGen
TOPMed
rs774478257
CA7588758
247 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs759801780
CA7588759
247 R>L No ClinGen
ExAC
gnomAD
rs759801780
CA271779455
247 R>Q No ClinGen
ExAC
gnomAD
rs566348759
CA7588760
249 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775714532
CA7588761
250 E>Q No ClinGen
ExAC
gnomAD
rs764720101
CA7588763
255 K>Q No ClinGen
ExAC
gnomAD
rs1261808656
CA392640690
256 E>V No ClinGen
gnomAD
CA392640695
rs1206250461
257 L>* No ClinGen
gnomAD
CA392640720
rs1445972349
260 E>A No ClinGen
gnomAD
rs754343842
CA7588764
260 E>Q No ClinGen
ExAC
gnomAD
rs762120507
CA7588765
261 L>* No ClinGen
ExAC
gnomAD
CA392640727
rs1269924233
261 L>F No ClinGen
gnomAD
CA392640723
rs1445664193
261 L>M No ClinGen
gnomAD
rs1566957027
CA392640735
263 R>* No ClinGen
Ensembl
rs1480149587
CA392640737
263 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7588766
rs765627677
265 L>S No ClinGen
ExAC
gnomAD
CA7588768
rs552125926
266 P>A No ClinGen
1000Genomes
ExAC
gnomAD
CA392640753
rs552125926
266 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1227099806
CA392640764
268 H>N No ClinGen
TOPMed
CA392640785
rs1566957042
271 R>G No ClinGen
Ensembl
rs754439548
CA7588771
272 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7588772
rs781157452
272 R>Q No ClinGen
ExAC
gnomAD
rs1402535052
CA392640808
275 K>E No ClinGen
gnomAD
CA7588775
rs373918972
277 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7588777
rs772453266
278 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA271779537
rs990575775
280 D>N No ClinGen
Ensembl
CA392640876
rs1596331978
283 Q>R No ClinGen
Ensembl
rs768913561
CA7588798
285 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs748536373
CA271779541
285 T>S No ClinGen
Ensembl
CA7588799
rs776783136
286 L>* No ClinGen
ExAC
gnomAD
rs776783136
CA392640894
286 L>S No ClinGen
ExAC
gnomAD
rs1337987761
CA392640941
292 E>D No ClinGen
TOPMed
gnomAD
rs1394694184
CA392640954
295 L>I No ClinGen
TOPMed
gnomAD
rs1423995104
CA392640961
296 I>F No ClinGen
TOPMed
rs763357025
CA7588803
296 I>S No ClinGen
ExAC
gnomAD
CA392640960
rs1423995104
296 I>V No ClinGen
TOPMed
rs774061171
CA7588806
297 D>H No ClinGen
ExAC
gnomAD
rs774061171
CA7588805
297 D>N No ClinGen
ExAC
gnomAD
rs752279669
CA7588808
298 Y>C No ClinGen
ExAC
gnomAD
CA392640973
rs1179559522
298 Y>H No ClinGen
TOPMed
CA7588809
rs368620705
300 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201814723
CA7588810
301 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392641004
rs1267225857
302 H>R No ClinGen
TOPMed
rs1323681249
CA392641020
304 H>R No ClinGen
TOPMed
CA392641055
rs1430731195
309 A>V No ClinGen
TOPMed
gnomAD
rs1227748139
CA392641073
312 A>V No ClinGen
TOPMed
rs1177745022
CA392641099
316 S>C No ClinGen
gnomAD
CA271779556
rs372870051
317 Q>E No ClinGen
ESP
TOPMed
gnomAD
CA392641121
rs1596332022
319 V>G No ClinGen
Ensembl
TCGA novel 320 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1283438623
CA392641125
320 L>P No ClinGen
TOPMed
gnomAD
rs745599085
CA392641122
320 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA392641128
rs1290939024
321 G>R No ClinGen
gnomAD
rs1363094792
CA392641135
322 Q>* No ClinGen
gnomAD
rs773532612
CA271779562
322 Q>R No ClinGen
Ensembl
CA7588815
rs768741504
324 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA392641158
rs1351218014
325 W>L No ClinGen
TOPMed
CA7588839
rs777819950
326 N>T No ClinGen
ExAC
gnomAD
rs1481339663
CA392641431
329 Q>E No ClinGen
TOPMed
gnomAD
rs771434890
CA7588841
329 Q>H No ClinGen
ExAC
gnomAD
CA392641433
rs1596333515
329 Q>R No ClinGen
Ensembl
rs779341862
CA271785169
CA7588842
330 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA392641440
rs1409399562
330 Q>R No ClinGen
gnomAD
rs186770064
CA7588843
331 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7588844
rs772289710
334 G>V No ClinGen
ExAC
gnomAD
rs1425498580
CA392641481
336 T>I No ClinGen
gnomAD
rs1425498580
CA392641479
336 T>K No ClinGen
gnomAD
CA271785172
rs973715494
337 E>K No ClinGen
Ensembl
rs760230293
CA7588846
339 E>* No ClinGen
ExAC
gnomAD
rs953851175
CA271785183
344 M>T No ClinGen
gnomAD
rs1372594385
CA392641539
345 Q>E No ClinGen
gnomAD
rs776284953
CA7588848
345 Q>R No ClinGen
ExAC
gnomAD
CA7588850
rs765290264
350 N>D No ClinGen
ExAC
gnomAD
CA392641604
rs1208773224
350 N>K No ClinGen
TOPMed
rs1483745600
CA392641613
351 V>A No ClinGen
TOPMed
gnomAD
rs1244721563
CA392641608
351 V>L No ClinGen
TOPMed
gnomAD
rs1356703121
CA392641665
355 N>I No ClinGen
TOPMed
CA271785186
rs985187794
358 L>V No ClinGen
Ensembl
CA7588852
rs750364693
359 T>I No ClinGen
ExAC
gnomAD
TCGA novel 365 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766285505
CA7588873
365 K>R No ClinGen
ExAC
gnomAD
rs1383670267
CA392643126
366 N>S No ClinGen
TOPMed
rs1338763357
CA392643176
369 A>V No ClinGen
gnomAD
rs1269283031
CA392643186
370 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA392643197
rs1450230493
371 S>C No ClinGen
TOPMed
CA392643222
rs1337733276
372 K>T No ClinGen
TOPMed
gnomAD
rs764347481
CA7588876
373 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1324824176
CA392643249
374 L>R No ClinGen
gnomAD
rs146077987
CA7588877
374 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7588878
rs757391426
375 K>N No ClinGen
ExAC
gnomAD
CA271785810
rs1041356717
375 K>R No ClinGen
Ensembl
rs750459393
CA392643271
376 I>M No ClinGen
ExAC
gnomAD
rs1276896131
CA392643269
376 I>T No ClinGen
TOPMed
gnomAD
CA392643277
rs1216738148
377 S>I No ClinGen
gnomAD
rs1476877578
CA392643287
378 M>I No ClinGen
gnomAD
CA7588882
rs376467552
379 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747355242
CA7588883
381 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA392643309
rs1217984500
382 L>V No ClinGen
gnomAD
CA392643328
rs1409865422
385 K>E No ClinGen
TOPMed
gnomAD
CA7588886
rs747798834
387 V>I No ClinGen
ExAC
gnomAD
CA7588887
rs747798834
387 V>L No ClinGen
ExAC
gnomAD
CA271785858
rs1024183249
388 K>E No ClinGen
Ensembl
CA392643348
rs1358299264
388 K>I No ClinGen
gnomAD
CA392643355
rs1596333889
389 D>A No ClinGen
Ensembl
rs770807962
CA7588890
391 A>T No ClinGen
ExAC
gnomAD
CA7588891
rs774319575
392 S>F No ClinGen
ExAC
gnomAD
rs774319575
CA392643374
392 S>Y No ClinGen
ExAC
gnomAD
CA392643381
rs1406587710
393 P>L No ClinGen
TOPMed
CA7588893
rs201360503
394 L>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392643388
rs1566958778
395 I>L No ClinGen
Ensembl
CA7588895
rs762035387
395 I>M No ClinGen
ExAC
gnomAD
rs28383563
RCV000962510
VAR_022222
CA7588894
395 I>T No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1225047849
CA392643392
396 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765376803
CA7588897
CA7588896
396 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA392643404
rs1451161940
398 S>P No ClinGen
gnomAD

No associated diseases with O95067

4 regional properties for O95067

Type Name Position InterPro Accession
domain Cyclin, C-terminal domain 264 - 382 IPR004367
domain Cyclin, N-terminal 137 - 261 IPR006671
domain Cyclin-like domain 171 - 255 IPR013763-1
domain Cyclin-like domain 268 - 349 IPR013763-2

Functions

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

7 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.
cyclin-dependent protein kinase holoenzyme complex Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
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.

2 GO annotations of molecular function

Name Definition
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
cyclin-dependent protein serine/threonine kinase regulator activity Modulates the activity of a cyclin-dependent protein serine/threonine kinase, enzymes of the protein kinase family that are regulated through association with cyclins and other proteins.

9 GO annotations of biological process

Name Definition
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
G2/MI transition of meiotic cell cycle The cell cycle process in which a cell progresses from meiotic G2 phase to M phase of meiosis I.
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
mitotic cell cycle phase transition The cell cycle process by which a cell commits to entering the next mitotic cell cycle phase.
regulation of cyclin-dependent protein serine/threonine kinase activity Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
regulation of growth Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development.
spindle assembly involved in female meiosis I The aggregation, arrangement and bonding together of a set of components to form the spindle during meiosis I of a meiotic cell cycle in females. An example of this is found in Drosophila melanogaster.
T cell homeostasis The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.
thymus development The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P20438 CLN2 G1/S-specific cyclin CLN2 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P24869 CLB2 G2/mitotic-specific cyclin-2 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P39963 CCNB3 G2/mitotic-specific cyclin-B3 Gallus gallus (Chicken) PR
P41002 CCNF Cyclin-F Homo sapiens (Human) PR
P24864 CCNE1 G1/S-specific cyclin-E1 Homo sapiens (Human) PR
P30279 CCND2 G1/S-specific cyclin-D2 Homo sapiens (Human) PR
Q6ZMN8 CCNI2 Cyclin-I2 Homo sapiens (Human) PR
Q10PQ9 SDS Cyclin-SDS-like Oryza sativa subsp japonica (Rice) PR
Q0JIF2 CYCB1-1 Cyclin-B1-1 Oryza sativa subsp japonica (Rice) PR
Q10Q62 CYCF3-2 Putative cyclin-F3-2 Oryza sativa subsp japonica (Rice) PR
O48790 CYCB1-4 Cyclin-B1-4 Arabidopsis thaliana (Mouse-ear cress) PR
A0MEB5 CYCA3-3 Cyclin-A3-3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FMH5 CYCA3-1 Putative cyclin-A3-1 Arabidopsis thaliana (Mouse-ear cress) PR
Q1PFW3 SDS Cyclin-SDS Arabidopsis thaliana (Mouse-ear cress) PR
Q9C6A9 CYCA3-2 Cyclin-A3-2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MALLRRPTVS SDLENIDTGV NSKVKSHVTI RRTVLEEIGN RVTTRAAQVA KKAQNTKVPV
70 80 90 100 110 120
QPTKTTNVNK QLKPTASVKP VQMEKLAPKG PSPTPEDVSM KEENLCQAFS DALLCKIEDI
130 140 150 160 170 180
DNEDWENPQL CSDYVKDIYQ YLRQLEVLQS INPHFLDGRD INGRMRAILV DWLVQVHSKF
190 200 210 220 230 240
RLLQETLYMC VGIMDRFLQV QPVSRKKLQL VGITALLLAS KYEEMFSPNI EDFVYITDNA
250 260 270 280 290 300
YTSSQIREME TLILKELKFE LGRPLPLHFL RRASKAGEVD VEQHTLAKYL MELTLIDYDM
310 320 330 340 350 360
VHYHPSKVAA AASCLSQKVL GQGKWNLKQQ YYTGYTENEV LEVMQHMAKN VVKVNENLTK
370 380 390
FIAIKNKYAS SKLLKISMIP QLNSKAVKDL ASPLIGRS