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

2 structures for P0C025

Entry ID Method Resolution Chain Position Source
5LF8 X-ray 256 A A 1-328 PDB
AF-P0C025-F1 Predicted AlphaFoldDB

351 variants for P0C025

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1007593303
CA29810978
2 A>T No ClinGen
TOPMed
gnomAD
CA29810981
rs765156404
3 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA1058675
rs765156404
3 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA29810984
rs1040502375
4 V>M No ClinGen
gnomAD
rs901803727
CA29810989
5 R>P No ClinGen
Ensembl
rs1462489130
CA342115647
6 V>A No ClinGen
TOPMed
rs993523792
CA29810991
6 V>L No ClinGen
Ensembl
rs782606515
CA1058674
8 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA342115683
rs1263461117
8 L>V No ClinGen
TOPMed
gnomAD
rs1553732009
CA342115717
10 L>V No ClinGen
gnomAD
rs1553732013
CA342115747
11 S>F No ClinGen
gnomAD
rs1338952594
CA342115763
12 R>Q No ClinGen
TOPMed
gnomAD
rs1553732017
CA342115758
12 R>W No ClinGen
gnomAD
rs782540724
CA342115788
13 R>L No ClinGen
gnomAD
rs782337799
CA1058673
13 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1327062333
CA342115793
14 P>S No ClinGen
TOPMed
rs1553732043
CA342115853
17 V>M No ClinGen
gnomAD
rs782505484
CA1058670
18 S>I No ClinGen
ExAC
gnomAD
CA29811102
rs375107467
18 S>R No ClinGen
ESP
ExAC
gnomAD
CA342115909
rs1553732048
19 F>S No ClinGen
gnomAD
rs1553732049
CA342115931
20 A>P No ClinGen
gnomAD
CA1058668
rs782613814
21 R>P No ClinGen
ExAC
gnomAD
CA342115945
rs1553732052
21 R>W No ClinGen
gnomAD
rs368322884
CA1058665
22 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342116012
rs1553732065
24 C>W No ClinGen
gnomAD
CA342116023
rs1475472951
25 G>D No ClinGen
TOPMed
rs1553732066
CA342116014
25 G>S No ClinGen
gnomAD
rs1553732073
CA342116055
27 L>V No ClinGen
gnomAD
CA342116077
rs1553732077
28 G>R No ClinGen
gnomAD
rs1553732080
CA342116103
29 A>V No ClinGen
gnomAD
CA1058664
rs782562286
30 G>E No ClinGen
ExAC
gnomAD
rs1553732083
CA342116113
COSM397059
30 G>R lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA29811126
rs782562286
30 G>V No ClinGen
ExAC
gnomAD
rs1553732085
CA342116135
31 P>S No ClinGen
gnomAD
rs781887599
CA1058663
32 G>A No ClinGen
ExAC
gnomAD
rs1570762478
CA342116157
32 G>R No ClinGen
Ensembl
rs782793720
CA1058662
34 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1553732094
CA342116225
35 T>A No ClinGen
gnomAD
CA1058659
rs202239856
37 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1058660
rs781975471
37 P>S No ClinGen
ExAC
gnomAD
CA342116293
rs1197709010
38 I>T No ClinGen
TOPMed
gnomAD
CA342116283
rs1271189379
38 I>V No ClinGen
TOPMed
gnomAD
rs587694841
CA1058656
40 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1553732109
CA342116364
41 S>N No ClinGen
gnomAD
rs1553732109
CA342116375
41 S>T No ClinGen
gnomAD
rs927742244
CA29811191
43 K>Q No ClinGen
Ensembl
rs1244505283
CA342116429
44 R>* No ClinGen
TOPMed
gnomAD
CA29811198
rs782252512
44 R>L No ClinGen
ExAC
gnomAD
rs782252512
CA1058655
44 R>Q No ClinGen
ExAC
gnomAD
rs1553732120
CA342116452
45 G>A No ClinGen
gnomAD
CA342116438
rs1553732119
45 G>R No ClinGen
gnomAD
CA342116456
rs868946439
46 R>G No ClinGen
TOPMed
gnomAD
rs1441959361
CA342116473
46 R>Q No ClinGen
TOPMed
gnomAD
rs868946439
CA342116459
46 R>W No ClinGen
TOPMed
gnomAD
CA342116480
rs1553732131
47 L>F No ClinGen
gnomAD
rs781975388
CA1058654
47 L>H No ClinGen
ExAC
gnomAD
CA342116531
rs1553732134
49 L>F No ClinGen
gnomAD
CA342116556
rs1553732141
50 S>L No ClinGen
gnomAD
rs782205752
CA1058652
50 S>P No ClinGen
ExAC
gnomAD
CA342116567
rs1410123802
51 S>N No ClinGen
TOPMed
CA342116616
rs1161124340
53 P>S No ClinGen
TOPMed
CA342116656
rs868980777
55 P>Q No ClinGen
Ensembl
CA342116650
rs1553732155
55 P>S No ClinGen
gnomAD
CA342116658
rs1553732158
56 G>S No ClinGen
gnomAD
rs1553732160
CA342116675
57 A>P No ClinGen
gnomAD
CA29811266
rs782669675
59 A>P No ClinGen
ExAC
gnomAD
CA1058648
rs782669675
59 A>S No ClinGen
ExAC
gnomAD
rs1553732168
CA342116708
60 R>K No ClinGen
gnomAD
CA1058647
rs782514095
61 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1553732173
CA342116725
62 P>L No ClinGen
gnomAD
rs1553732173
CA342116723
62 P>Q No ClinGen
gnomAD
CA342116744
rs1553732181
64 Q>H No ClinGen
gnomAD
CA29811307
rs781858734
64 Q>P No ClinGen
ExAC
gnomAD
CA1058644
rs781858734
64 Q>R No ClinGen
ExAC
gnomAD
CA1058618
rs375355925
65 R>* No ClinGen
ESP
ExAC
gnomAD
rs781787418
CA1058617
66 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs1035159901
CA29811647
67 P>R No ClinGen
gnomAD
rs782818895
CA1058616
69 C>G No ClinGen
ExAC
gnomAD
CA342116790
rs1481532114
69 C>Y No ClinGen
TOPMed
gnomAD
rs868980908
CA342116799
70 P>R No ClinGen
gnomAD
CA342116797
rs1553732296
70 P>S No ClinGen
gnomAD
rs782149724
CA1058615
71 F>S No ClinGen
ExAC
gnomAD
rs868979228
CA342116811
72 A>V No ClinGen
Ensembl
CA342116812
rs1553732301
73 A>T No ClinGen
gnomAD
CA342116830
rs141678266
75 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1570763552
CA342116832
76 E>Q No ClinGen
Ensembl
rs782328085
CA1058611
77 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA342116841
rs1553732315
77 R>Q No ClinGen
gnomAD
rs782328085
CA1058610
77 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1553732322
CA342116844
78 P>H No ClinGen
gnomAD
rs988324956
CA29811709
78 P>S No ClinGen
TOPMed
gnomAD
rs988324956
CA342116842
78 P>T No ClinGen
TOPMed
gnomAD
TCGA novel 79 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1058608
rs782681937
80 V>I No ClinGen
ExAC
gnomAD
rs1559158557
CA342116862
81 P>L No ClinGen
Ensembl
rs1212316944
CA342116869
83 A>T No ClinGen
TOPMed
rs782413956
CA1058607
84 E>Q No ClinGen
ExAC
gnomAD
rs1553732341
CA342116894
87 T>A No ClinGen
gnomAD
rs979616687
CA29811725
89 R>G No ClinGen
TOPMed
rs1553732342
CA342116908
89 R>Q No ClinGen
gnomAD
CA342116912
rs1270702568
90 G>R No ClinGen
TOPMed
CA342116921
rs1451755468
91 V>A No ClinGen
TOPMed
gnomAD
CA342116917
rs1553732347
91 V>M No ClinGen
gnomAD
CA342116932
rs1553732351
93 L>V No ClinGen
gnomAD
rs782608945
CA1058604
94 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs782608945
CA342116939
94 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs782468402
CA1058603
97 V>A No ClinGen
ExAC
gnomAD
CA342116955
rs1471100335
97 V>I No ClinGen
TOPMed
gnomAD
rs371090124
CA1058602
98 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1553732371
CA342116969
100 Q>R No ClinGen
gnomAD
CA342116978
rs1169966044
101 S>F No ClinGen
TOPMed
gnomAD
CA342116979
rs374333965
102 S>G No ClinGen
gnomAD
rs782576215
CA1058601
102 S>R No ClinGen
ExAC
gnomAD
rs1553732380
CA342116985
103 D>N No ClinGen
gnomAD
CA342116995
rs1553732383
104 K>R No ClinGen
gnomAD
CA342117004
rs1553732388
105 T>I No ClinGen
gnomAD
CA342117001
rs1421673252
105 T>S No ClinGen
TOPMed
rs1553732390
CA342117011
106 V>A No ClinGen
gnomAD
CA1058598
rs782768416
107 L>M No ClinGen
ExAC
gnomAD
CA342117020
rs587654875
108 L>P No ClinGen
1000Genomes
gnomAD
CA29811792
rs587654875
108 L>Q No ClinGen
1000Genomes
gnomAD
CA342117026
rs368699805
109 T>I No ClinGen
ESP
TOPMed
gnomAD
rs368699805
CA342117025
109 T>N No ClinGen
ESP
TOPMed
gnomAD
rs1553732395
CA342117029
110 R>* No ClinGen
gnomAD
CA29811798
rs976256792
110 R>P No ClinGen
Ensembl
rs1205947687
CA342117033
111 R>W No ClinGen
TOPMed
CA1058597
rs41314015
112 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781843662
CA1058596
113 R>C No ClinGen
ExAC
gnomAD
rs782734985
CA342117044
113 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs782734985
CA1058595
113 R>P No ClinGen
ExAC
gnomAD
CA342117049
rs1553732404
114 T>I No ClinGen
gnomAD
rs1201919849
CA342117055
115 L>P No ClinGen
TOPMed
rs148412329
CA1058593
116 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1058592
rs782439418
117 V>G No ClinGen
ExAC
gnomAD
rs782152369
CA1058591
118 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1553732418
CA342117075
119 P>L No ClinGen
gnomAD
rs1553732418
CA342117076
119 P>R No ClinGen
gnomAD
rs1316956169
CA342117084
120 N>K No ClinGen
TOPMed
CA342117081
rs1553732424
120 N>T No ClinGen
gnomAD
CA29811844
rs887736779
121 L>F No ClinGen
gnomAD
rs942018544
CA29811845
122 W>L No ClinGen
gnomAD
CA342117099
rs1553732435
123 V>I No ClinGen
gnomAD
rs1372263023
CA342117110
124 P>L No ClinGen
TOPMed
CA342117107
rs1453129700
124 P>S No ClinGen
TOPMed
CA342117116
rs1553732444
125 P>L No ClinGen
gnomAD
CA342117111
rs1553732442
125 P>T No ClinGen
gnomAD
rs782001827
CA1058542
128 H>Q No ClinGen
ExAC
gnomAD
CA342117927
rs1553732516
129 V>M No ClinGen
gnomAD
rs1553732517
CA342117958
130 E>D No ClinGen
gnomAD
CA1058541
rs782762413
133 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs782099588
CA1058540
134 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs587710326
CA1058522
137 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA342118234
rs1553732559
138 G>E No ClinGen
gnomAD
CA1058520
rs782806528
139 G>W No ClinGen
ExAC
TOPMed
gnomAD
COSM895230
rs782007808
CA1058519
141 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA1058518
rs782007808
141 R>G No ClinGen
ExAC
gnomAD
CA1058517
rs145860956
141 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342118352
rs1169904234
144 W>* No ClinGen
TOPMed
rs781930517
CA1058515
146 E>A No ClinGen
ExAC
gnomAD
rs1553732568
CA342118382
146 E>K No ClinGen
gnomAD
rs1559159101
CA526253121
148 G>* No ClinGen
Ensembl
CA1058514
rs199712477
148 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA29812422
rs199712477
148 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA526253122
rs1559159105
148 G>E No ClinGen
Ensembl
CA1058513
rs781944277
149 L>* No ClinGen
ExAC
TCGA novel 150 H>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570765085
CA342118460
150 H>P No ClinGen
Ensembl
rs1020634902
CA29812432
151 L>V No ClinGen
TOPMed
gnomAD
CA342118543
rs1188592416
156 F>L No ClinGen
TOPMed
rs1000597933
CA29812464
157 S>F No ClinGen
Ensembl
CA342118568
rs1570765143
158 W>R No ClinGen
Ensembl
CA342118579
rs1437433819
159 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 160 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782381474
CA1058509
160 P>L No ClinGen
ExAC
gnomAD
CA342118624
rs1553732584
163 L>S No ClinGen
gnomAD
rs1207416362
CA342118633
164 W>* No ClinGen
TOPMed
rs782615139
CA1058507
164 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1232663950
CA342118783
166 S>P No ClinGen
TOPMed
gnomAD
rs781782982
CA1058475
167 A>D No ClinGen
ExAC
gnomAD
CA888518898
rs1329344381
168 Y>* No ClinGen
TOPMed
CA342118801
rs1304063667
168 Y>C No ClinGen
TOPMed
gnomAD
rs782805518
CA1058474
168 Y>D No ClinGen
ExAC
gnomAD
CA29813140
rs782805518
168 Y>N No ClinGen
ExAC
gnomAD
CA342118823
rs1553732773
170 P>L No ClinGen
gnomAD
rs1553732774
CA342118826
171 R>W No ClinGen
gnomAD
CA342118854
rs1318918522
173 S>I No ClinGen
TOPMed
rs1318918522
CA342118855
173 S>N No ClinGen
TOPMed
CA342118859
rs1388945151
173 S>R No ClinGen
TOPMed
CA342118868
rs1553732781
174 W>S No ClinGen
gnomAD
CA342118885
rs1175185990
175 G>D No ClinGen
TOPMed
gnomAD
CA342118878
rs1553732788
175 G>S No ClinGen
gnomAD
rs782572045
CA342118956
180 H>Q No ClinGen
TOPMed
gnomAD
rs782795924
CA1058468
180 H>R No ClinGen
ExAC
CA342118935
rs1553732790
180 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA342118966
rs368251563
181 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1058467
rs368251563
181 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1553732793
CA342119798
182 I>V No ClinGen
gnomAD
rs1570766377
CA342119810
183 V>I No ClinGen
Ensembl
rs1199581405
CA342119833
185 Y>H No ClinGen
TOPMed
CA1058464
rs375787974
188 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1058463
rs375787974
188 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781994978
CA1058459
190 S>A No ClinGen
ExAC
gnomAD
rs782335086
CA1058458
191 Q>R No ClinGen
ExAC
gnomAD
rs371186827
CA342119908
192 E>* No ClinGen
ESP
TOPMed
rs782217720
CA1058457
192 E>G No ClinGen
ExAC
gnomAD
rs782601251
CA1058456
194 Q>K No ClinGen
ExAC
gnomAD
CA342119930
rs1553732808
194 Q>R No ClinGen
gnomAD
rs1553732810
CA342119945
195 Q>R No ClinGen
gnomAD
CA342119957
rs1553732811
196 Q>L No ClinGen
gnomAD
rs1553732815
CA342119984
198 Q>H No ClinGen
gnomAD
rs201402956
CA1058430
200 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM423704
rs201402956
CA1058429
200 R>Q breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781805420
CA1058431
200 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA1058427
rs144514921
202 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1058426
rs370569724
202 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1553732934
CA342120149
203 P>R No ClinGen
gnomAD
rs782043047
CA1058425
207 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs781893766
CA1058424
208 V>M No ClinGen
ExAC
gnomAD
rs907639472
CA29813428
209 S>C No ClinGen
TOPMed
gnomAD
rs782117564
CA1058422
210 A>T No ClinGen
ExAC
gnomAD
rs782005984
CA1058421
210 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1058419
rs376191661
211 L>P No ClinGen
ESP
ExAC
gnomAD
CA342120314
rs1455403236
212 M>K No ClinGen
TOPMed
rs1386772125
CA342120342
213 W>* No ClinGen
TOPMed
CA1058418
rs201103422
215 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA29813463
rs898862774
216 P>L No ClinGen
Ensembl
CA1058417
rs782322102
216 P>T No ClinGen
ExAC
gnomAD
rs782670840
CA29813491
217 D>E No ClinGen
ExAC
gnomAD
CA342120420
rs1401376530
217 D>G No ClinGen
TOPMed
CA1058415
rs782273869
217 D>H No ClinGen
ExAC
gnomAD
CA1058412
rs782376396
218 V>I No ClinGen
ExAC
gnomAD
rs1553732959
CA342120470
220 A>T No ClinGen
gnomAD
CA1058411
rs782255046
220 A>V No ClinGen
ExAC
gnomAD
rs1171404251
CA342120484
221 A>T No ClinGen
TOPMed
CA1058410
rs782596675
221 A>V No ClinGen
ExAC
gnomAD
CA342120514
rs61729646
222 V>G No ClinGen
Ensembl
rs1570767285
CA342120523
223 A>P No ClinGen
Ensembl
CA29813553
rs781784766
224 A>G No ClinGen
ExAC
gnomAD
CA1058408
rs781784766
224 A>V No ClinGen
ExAC
gnomAD
CA1058406
rs201851608
225 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs76141448
CA29813580
226 E>G No ClinGen
Ensembl
rs895936218
CA29813578
226 E>Q No ClinGen
Ensembl
rs782776323
CA1058403
228 G>A No ClinGen
ExAC
gnomAD
CA1058404
rs782776323
228 G>E No ClinGen
ExAC
gnomAD
rs1553732978
CA342120654
229 T>A No ClinGen
gnomAD
rs1553732980
CA342120669
230 E>Q No ClinGen
gnomAD
CA342120716
rs1188352424
231 T>I No ClinGen
TOPMed
gnomAD
rs1311174553
CA342120754
233 G>E No ClinGen
TOPMed
gnomAD
CA1058400
rs139528449
233 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 233 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1058397
rs587692764
237 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1553732993
CA342120832
237 Q>K No ClinGen
gnomAD
CA342120842
rs1220923519
237 Q>R No ClinGen
TOPMed
rs1345661004
CA342120871
238 D>E No ClinGen
TOPMed
gnomAD
CA342120851
rs1553732995
238 D>N No ClinGen
gnomAD
CA342120879
rs1296734055
239 L>V No ClinGen
TOPMed
gnomAD
CA342120890
rs1553732999
240 P>T No ClinGen
gnomAD
CA1058396
rs782818981
241 P>L No ClinGen
ExAC
gnomAD
rs587629676
CA1058395
242 S>A No ClinGen
1000Genomes
ExAC
CA1058394
rs781999110
243 V>I No ClinGen
ExAC
gnomAD
TCGA novel 244 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA342120961
rs1553733009
244 L>P No ClinGen
gnomAD
CA342121197
rs1570768051
247 E>A No ClinGen
Ensembl
rs1553733087
CA342121220
248 L>P No ClinGen
gnomAD
CA1058375
rs112245472
250 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA29813930
rs903395603
252 G>R No ClinGen
gnomAD
rs1553733102
CA342121339
253 R>S No ClinGen
gnomAD
CA1058371
rs372461314
253 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782700883
CA342121347
254 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs782700883
CA1058370
254 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1058369
rs782062001
255 R>* No ClinGen
ExAC
gnomAD
rs782410344
CA1058368
255 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA342121373
rs782410344
255 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1553733108
CA342121390
256 P>T No ClinGen
gnomAD
rs781960772
CA1058365
258 V>L No ClinGen
ExAC
gnomAD
rs1553733113
CA342121448
259 L>Q No ClinGen
gnomAD
CA342121455
rs1353025554
260 H>Y No ClinGen
TOPMed
gnomAD
CA342121494
rs1261357317
261 M>I No ClinGen
TOPMed
gnomAD
rs1553733118
CA342121485
261 M>T No ClinGen
gnomAD
rs782358638
CA1058364
262 S>A No ClinGen
ExAC
gnomAD
rs191785243
CA1058363
262 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1333617
rs781948166
CA1058361
263 T>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs781948166
CA1058360
263 T>N No ClinGen
ExAC
gnomAD
CA1058358
rs587611781
266 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs139025436
CA1058356
266 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139025436
CA1058355
266 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs587611781
CA1058357
266 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1058354
rs781797302
267 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA342121774
rs1385099016
270 T>I No ClinGen
TOPMed
rs782780442
CA1058353
271 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1058352
rs782124491
273 E>G No ClinGen
ExAC
gnomAD
CA342121845
rs1553733153
273 E>Q No ClinGen
gnomAD
CA1058351
rs587676394
274 D>N No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 275 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782734090
CA1058349
276 E>D No ClinGen
ExAC
CA342121943
rs1388089305
276 E>G No ClinGen
TOPMed
gnomAD
rs1559160479
CA342121940
276 E>K No ClinGen
Ensembl
CA29814112
rs954633852
277 R>G No ClinGen
TOPMed
gnomAD
CA342122103
rs61816166
281 G>E No ClinGen
gnomAD
CA1058343
rs781922413
281 G>R No ClinGen
ExAC
gnomAD
CA29814158
rs61816166
281 G>V No ClinGen
gnomAD
rs1262631368
CA342122124
282 T>I No ClinGen
TOPMed
gnomAD
rs1262631368
CA342122127
282 T>N No ClinGen
TOPMed
gnomAD
CA1058341
rs16827062
283 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA342122140
rs1482278382
283 K>T No ClinGen
TOPMed
CA342122181
rs1341979312
285 A>S No ClinGen
TOPMed
rs961873458
CA29814175
286 L>R No ClinGen
Ensembl
CA342122210
rs1553733186
287 K>Q No ClinGen
gnomAD
CA1058339
rs782373628
288 L>F No ClinGen
ExAC
gnomAD
rs1326690761
CA342122319
291 Q>* No ClinGen
TOPMed
rs1311485963
CA342122362
292 H>Q No ClinGen
TOPMed
rs782599696
CA1058337
293 L>V No ClinGen
ExAC
gnomAD
rs142625946
CA1058336
295 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142625946
CA29814213
295 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1058311
rs782669974
296 T>I No ClinGen
ExAC
gnomAD
rs782564287
CA1058310
297 P>A No ClinGen
ExAC
gnomAD
rs781854978
CA1058309
297 P>L No ClinGen
ExAC
gnomAD
CA342123866
rs1283298115
298 P>L No ClinGen
TOPMed
CA1058306
rs149130451
299 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1348586293
CA342123885
300 C>S No ClinGen
TOPMed
rs199927874
CA342123930
302 S>G No ClinGen
Ensembl
rs782804232
CA1058299
302 S>R No ClinGen
ExAC
gnomAD
rs932754285
CA29814468
303 A>T No ClinGen
Ensembl
rs377011225
CA342123965
304 A>T No ClinGen
ESP
TOPMed
rs782107546
CA1058296
305 Y>F No ClinGen
ExAC
gnomAD
CA1058295
rs781958200
308 P>S No ClinGen
ExAC
gnomAD
rs1553733280
CA342124089
309 G>A No ClinGen
gnomAD
CA342124117
rs868944809
311 A>T No ClinGen
Ensembl
rs1410334400
CA342124131
311 A>V No ClinGen
TOPMed
gnomAD
CA342124144
rs1553733288
312 K>E No ClinGen
gnomAD
CA342124216
rs1553733291
314 E>D No ClinGen
gnomAD
CA342124242
rs1553733294
315 W>C No ClinGen
gnomAD
rs1162955919
CA342124223
315 W>R No ClinGen
TOPMed
CA342124289
rs1456554349
317 M>T No ClinGen
TOPMed
rs1553733295
CA342124312
318 D>G No ClinGen
gnomAD
CA342124343
rs1570768826
320 L>I No ClinGen
Ensembl
CA29814517
rs782410460
321 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA1058291
rs782410460
321 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs150242444
CA1058292
321 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs150242444
CA1058293
321 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372456821
CA1058288
322 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1058287
rs372456821
322 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372456821
CA1058289
322 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342124381
rs1553733308
322 P>S No ClinGen
gnomAD
CA1058285
rs782610175
323 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs782610175
CA29814529
323 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs1553733314
CA342124441
324 Q>R No ClinGen
gnomAD
CA1058284
rs201942887
325 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1553733319
CA342124499
326 S>Y No ClinGen
gnomAD
CA1058283
rs141843567
327 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782792008
CA1058282
328 K>E No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with P0C025

2 regional properties for P0C025

Type Name Position InterPro Accession
domain NUDIX hydrolase domain 90 - 236 IPR000086
domain Nudix motif 17 domain 92 - 234 IPR033716

Functions

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

1 GO annotations of cellular component

Name Definition
peroxisome A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

2 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
NADH pyrophosphatase activity Catalysis of the reaction: NADH + H2O = AMP + NMNH + 2 H+.

3 GO annotations of biological process

Name Definition
NAD catabolic process The chemical reactions and pathways resulting in the breakdown of nicotinamide adenine dinucleotide, a coenzyme present in most living cells and derived from the B vitamin nicotinic acid; catabolism may be of either the oxidized form, NAD, or the reduced form, NADH.
NADH metabolic process The chemical reactions and pathways involving reduced nicotinamide adenine dinucleotide (NADH), a coenzyme present in most living cells and derived from the B vitamin nicotinic acid.
NADP catabolic process The chemical reactions and pathways resulting in the breakdown of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; catabolism may be of either the oxidized form, NADP, or the reduced form, NADPH.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9CWD3 Nudt17 Nucleoside diphosphate-linked moiety X motif 17 Mus musculus (Mouse) PR
10 20 30 40 50 60
MAEVRVQLLL SRRPESVSFA RSVCGLLGAG PGLGTWPIHC SLKRGRLVLS SRPFPGASAR
70 80 90 100 110 120
LPLQRPPFCP FAALEERPRV PGAELPTDRG VDLGVAVILQ SSDKTVLLTR RARTLSVSPN
130 140 150 160 170 180
LWVPPGGHVE LEEELLDGGL RELWEESGLH LPQGQFSWVP LGLWESAYPP RLSWGLPKYH
190 200 210 220 230 240
HIVLYLLVIS QESQQQLQAR IQPNPNEVSA LMWLTPDVAA AVAAAEDGTE TPGLLPQDLP
250 260 270 280 290 300
PSVLAVELEE DGRARPLVLH MSTLLRMIPT MAEDKERVST GTKFALKLWL QHLGRTPPPC
310 320
KSAAYLDPGP AKEEWNMDPL PPNQGSGK