P0C025
Gene name |
NUDT17 |
Protein name |
Nucleoside diphosphate-linked moiety X motif 17 |
Names |
Nudix motif 17 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:200035 |
EC number |
|
Protein Class |
|
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
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 |