P13051
PR
Gene name |
UNG |
Protein name |
Uracil-DNA glycosylase |
Names |
UDG |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7374 |
EC number |
3.2.2.27: Hydrolyzing N-glycosyl compounds |
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
23 structures for P13051
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1AKZ | X-ray | 157 A | A | 94-313 | PDB |
| 1DPU | NMR | - | B | 73-88 | PDB |
| 1EMH | X-ray | 180 A | A | 94-313 | PDB |
| 1EMJ | X-ray | 200 A | A | 94-313 | PDB |
| 1Q3F | X-ray | 190 A | A | 94-313 | PDB |
| 1SSP | X-ray | 190 A | E | 94-313 | PDB |
| 1UGH | X-ray | 190 A | E | 94-313 | PDB |
| 1YUO | X-ray | 195 A | A | 91-313 | PDB |
| 2HXM | X-ray | 130 A | A | 94-313 | PDB |
| 2OXM | X-ray | 250 A | A | 94-313 | PDB |
| 2OYT | X-ray | 200 A | A | 94-313 | PDB |
| 2SSP | X-ray | 225 A | E | 94-313 | PDB |
| 3FCF | X-ray | 184 A | A | 94-313 | PDB |
| 3FCI | X-ray | 127 A | A | 94-313 | PDB |
| 3FCK | X-ray | 164 A | B | 94-313 | PDB |
| 3FCL | X-ray | 170 A | A/B | 94-313 | PDB |
| 3TKB | X-ray | 150 A | A | 94-313 | PDB |
| 4SKN | X-ray | 290 A | E | 94-313 | PDB |
| 5AYR | X-ray | 240 A | A/C | 94-313 | PDB |
| 5JK7 | X-ray | 349 A | D/G | 94-313 | PDB |
| 6VBA | X-ray | 180 A | A | 94-313 | PDB |
| 7V7C | EM | 370 A | D/H | 94-313 | PDB |
| AF-P13051-F1 | Predicted | AlphaFoldDB |
283 variants for P13051
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs747684225 CA6772435 RCV002562448 RCV001218242 |
11 | F>S | Hyper-IgM syndrome type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1435043915 CA386468690 RCV003166156 RCV000797528 |
21 | A>T | Hyper-IgM syndrome type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001109467 CA6772441 rs373668102 |
22 | P>L | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6772445 rs765512122 RCV001109468 |
29 | Q>P | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886048906 RCV000299867 CA10636316 |
34 | A>T | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6772452 RCV001218333 rs377203641 |
42 | D>H | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6772504 rs143103316 RCV000551728 |
49 | K>R | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001314932 CA6772513 rs371482568 RCV002543656 |
58 | P>L | Hyper-IgM syndrome type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2042150747 RCV001055860 |
60 | T>QEE | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199956941 RCV001109469 CA6772521 |
65 | P>L | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6772534 rs762261195 RCV000332287 |
77 | N>K | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297320 CA386469726 rs1158616684 |
78 | K>E | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6772540 rs767034552 RCV000800808 |
87 | A>V | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687269 rs151095402 CA6772541 RCV000506946 |
88 | R>C | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201031933 CA6772542 RCV000639383 |
89 | N>D | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2042152878 RCV001216290 |
106 | F>L | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200273184 RCV000807482 CA6772594 RCV002537251 |
122 | R>S | Hyper-IgM syndrome type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6772598 rs140829672 RCV000705084 |
131 | P>L | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6772605 RCV001235322 rs766218046 |
139 | Q>K | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001294940 CA243397272 rs746462706 |
151 | L>P | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA386471687 RCV001297755 rs1188727621 |
163 | H>D | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1510769 CA6772639 COSM1510768 rs745760429 RCV001329608 CA6772640 |
164 | G>R | lung Hyper-IgM syndrome type 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ExAC gnomAD ClinVar dbSNP |
|
rs2042181539 RCV001300180 |
170 | Q>E | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs545691651 CA6772678 RCV000791786 |
182 | I>V | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV001192880 CA6772690 RCV002534763 RCV000803713 rs201388456 |
198 | H>R | Hyper-IgM syndrome type 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA386472632 rs1196324378 RCV001300374 |
207 | Q>R | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2042193445 RCV001236044 |
211 | L>I | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217087 CA6772721 rs776921243 |
213 | N>S | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1357632504 RCV001228277 CA386473499 |
218 | V>G | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2042193896 RCV001112234 |
222 | Q>E | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1726490 rs772214871 CA6772735 RCV000701366 COSM1726489 |
229 | R>* | liver Hyper-IgM syndrome type 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001333460 rs201146665 CA243398806 |
237 | A>G | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104894380 VAR_017094 RCV000013086 CA122119 |
251 | F>S | Hyper-IgM syndrome type 5 HIGM5; fully active and stable when expressed in E.coli; mistargeted to mitochondria rather than the nucleus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000285151 RCV000520946 rs769188214 CA6772755 |
257 | Y>H | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000803154 CA6772802 rs143034537 COSM934690 COSM934689 |
269 | R>W | Variant assessed as Somatic; 0.0 impact. Hyper-IgM syndrome type 5 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6772804 rs147460908 RCV001112235 |
271 | H>R | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001237357 CA6772806 rs761656626 |
275 | T>M | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6772811 RCV001220635 rs202127223 |
280 | P>L | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs576935575 CA6772812 RCV000533213 |
281 | L>F | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs749817306 RCV001243867 CA6772815 |
290 | C>G | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001320279 rs2042248475 |
298 | E>* | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555265484 RCV000639384 CA386476370 |
304 | G>D | Hyper-IgM syndrome type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6772434 rs781643146 |
3 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA243392307 rs868596879 |
4 | Q>K | No |
ClinGen Ensembl |
|
|
rs7488798 CA243392324 VAR_052697 |
4 | Q>R | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA243392361 rs990883898 |
6 | T>R | No |
ClinGen TOPMed |
|
|
rs1215646041 CA386468536 |
8 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 10 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184960394 CA386468585 |
11 | F>L | No |
ClinGen gnomAD |
|
|
rs1448832810 CA386468596 |
12 | S>F | No |
ClinGen gnomAD |
|
|
CA6772436 rs769496984 |
12 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769496984 CA386468587 |
12 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572847021 CA243392378 |
13 | P>R | No |
ClinGen 1000Genomes |
|
|
CA386468632 rs1171393436 |
16 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386468658 rs1358864015 |
18 | K>R | No |
ClinGen gnomAD |
|
|
rs1338829405 CA386468667 |
19 | R>* | No |
ClinGen gnomAD |
|
|
CA6772439 rs770972381 |
20 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386468697 rs1268732277 |
21 | A>G | No |
ClinGen gnomAD |
|
|
rs1435043915 CA386468692 |
21 | A>P | No |
ClinGen gnomAD |
|
|
CA386468699 rs1268732277 |
21 | A>V | No |
ClinGen gnomAD |
|
|
CA6772440 rs774385200 |
22 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774385200 CA386468700 |
22 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772442 rs767154683 |
24 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386468742 rs1593318054 |
25 | E>V | No |
ClinGen Ensembl |
|
|
CA6772443 rs775369845 |
26 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386468752 rs1321029062 |
26 | P>S | No |
ClinGen gnomAD |
|
|
rs750472259 CA386468805 |
29 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765512122 CA386468799 |
29 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs534071307 CA6772447 |
30 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1593318088 CA386468831 |
32 | G>S | No |
ClinGen Ensembl |
|
|
rs751970160 CA6772449 |
33 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1479809103 CA386468873 |
35 | G>E | No |
ClinGen TOPMed |
|
|
CA243392432 rs894993490 |
36 | V>G | No |
ClinGen Ensembl |
|
|
rs1406945995 CA386468882 |
36 | V>L | No |
ClinGen gnomAD |
|
|
CA243392445 rs918596003 |
37 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386468897 rs1205349419 |
37 | P>L | No |
ClinGen TOPMed |
|
|
rs1442284730 CA386468910 |
38 | E>D | No |
ClinGen TOPMed |
|
|
rs1347520254 CA386468941 |
41 | G>R | No |
ClinGen gnomAD |
|
|
CA386468975 rs1224986514 |
43 | A>G | No |
ClinGen gnomAD |
|
|
CA6772454 rs777606593 |
43 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243392477 rs1018876048 |
44 | A>V | No |
ClinGen Ensembl |
|
|
CA386469409 rs1195847201 |
45 | A>T | No |
ClinGen gnomAD |
|
|
rs768590866 CA6772503 |
45 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386469474 rs1033323157 |
50 | K>N | No |
ClinGen gnomAD |
|
|
rs748002881 CA6772505 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771026474 CA6772506 |
52 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771026474 CA386469489 |
52 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6772507 rs774680893 |
53 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6772510 rs772124780 |
55 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386469539 rs1013317831 CA243393552 |
57 | E>D | No |
ClinGen gnomAD |
|
|
rs376873909 CA6772512 |
57 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485203810 CA386469548 |
59 | G>E | No |
ClinGen gnomAD |
|
|
CA386469546 rs1593318769 |
59 | G>R | No |
ClinGen Ensembl |
|
|
rs1213470414 CA386469561 |
61 | P>R | No |
ClinGen TOPMed |
|
|
CA6772517 rs373518543 |
62 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6772519 rs140065688 |
63 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757987852 CA6772520 |
64 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772522 rs199956941 |
65 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6772525 rs747914581 |
67 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755887246 CA6772526 |
67 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386469605 rs1387398431 |
67 | S>R | No |
ClinGen gnomAD |
|
|
CA386469615 rs1435121806 |
68 | A>V | No |
ClinGen TOPMed |
|
|
CA6772529 rs772242506 |
69 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386469636 rs1241820370 |
70 | Q>P | No |
ClinGen gnomAD |
|
|
rs1359164725 CA386469657 |
72 | D>H | No |
ClinGen gnomAD |
|
|
CA6772531 rs747129281 |
73 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6772532 rs769267219 |
73 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386469669 rs747129281 |
73 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA386469744 rs1420734916 |
79 | A>V | No |
ClinGen gnomAD |
|
|
rs1159743111 CA386469755 |
80 | A>V | No |
ClinGen gnomAD |
|
|
rs974630802 CA243393740 |
81 | A>S | No |
ClinGen Ensembl |
|
|
CA386469765 rs1384598935 |
81 | A>V | No |
ClinGen gnomAD |
|
|
rs766012994 CA6772537 |
84 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6772538 rs376181894 |
84 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386469821 rs1297621204 |
85 | L>H | No |
ClinGen gnomAD |
|
|
CA386469838 rs1318382406 |
86 | A>E | No |
ClinGen TOPMed |
|
|
rs1213187385 CA386469833 |
86 | A>T | No |
ClinGen TOPMed |
|
|
rs767034552 CA386469859 |
87 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986919598 CA386469873 |
88 | R>L | No |
ClinGen gnomAD |
|
|
rs986919598 CA243393858 |
88 | R>P | No |
ClinGen gnomAD |
|
|
rs940064070 CA243393883 |
89 | N>S | No |
ClinGen gnomAD |
|
|
rs749104168 CA6772544 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243393928 rs867451619 |
91 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 92 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747259936 CA6772547 |
94 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6772548 rs527285906 |
95 | G>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs139936609 CA243393959 |
97 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139936609 CA6772550 |
97 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386470079 rs1385644133 |
98 | W>* | No |
ClinGen gnomAD |
|
|
CA386470105 rs773617744 |
100 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386470094 rs1334727732 |
100 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763266989 CA6772553 |
101 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431625116 CA386470123 |
102 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6772554 rs765993097 |
102 | L>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000658665 rs1555264685 |
103 | S>missing | No |
ClinVar dbSNP |
|
|
rs146420387 COSM95429 COSM95430 CA6772555 |
104 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs766958737 CA6772557 |
105 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386470182 rs1290849343 |
107 | G>R | No |
ClinGen gnomAD |
|
|
CA386470207 rs1451113436 |
109 | P>T | No |
ClinGen gnomAD |
|
|
CA6772559 rs756074826 |
111 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6772560 rs763978824 |
112 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs369814197 CA243394089 |
112 | I>V | No |
ClinGen Ensembl |
|
|
CA6772562 rs756957921 |
113 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs778885373 CA6772563 |
113 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386470343 rs1302135830 |
115 | M>I | No |
ClinGen gnomAD |
|
|
rs1593319341 CA386470344 |
116 | G>R | No |
ClinGen Ensembl |
|
|
rs779246152 CA6772592 |
119 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA243394719 rs1035623046 |
124 | H>R | No |
ClinGen TOPMed |
|
|
CA386470408 rs1195799990 |
125 | Y>D | No |
ClinGen TOPMed |
|
|
CA386470431 rs1340441355 |
128 | Y>C | No |
ClinGen TOPMed |
|
|
CA6772595 rs771690497 |
129 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA386470443 rs1277277051 |
130 | P>H | No |
ClinGen TOPMed |
|
|
rs774959386 CA6772597 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA243394733 rs1051616454 |
132 | H>Y | No |
ClinGen TOPMed |
|
|
CA6772600 rs576044400 |
133 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386470460 rs1268407220 |
133 | Q>R | No |
ClinGen gnomAD |
|
|
CA6772601 rs761826317 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765329435 CA6772602 |
136 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765329435 CA6772603 |
136 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA243394807 rs750049084 |
137 | W>* | No |
ClinGen Ensembl |
|
|
rs1174862351 CA386470712 |
138 | T>A | No |
ClinGen gnomAD |
|
|
CA386470725 rs1175987392 |
138 | T>I | No |
ClinGen gnomAD |
|
|
CA6772606 rs752820603 |
140 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA386470771 rs1425165766 |
141 | C>R | No |
ClinGen gnomAD |
|
|
CA386470800 rs1363290010 |
142 | D>G | No |
ClinGen gnomAD |
|
|
rs756363104 CA6772607 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386471596 rs1245322882 |
149 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA386471594 rs1245322882 |
149 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201026607 CA243397266 |
150 | I>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 152 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386471626 rs1284981897 |
154 | D>N | No |
ClinGen gnomAD |
|
|
CA6772631 rs758959937 |
157 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1228078422 CA386471655 |
158 | G>E | No |
ClinGen TOPMed |
|
|
rs747470868 CA6772633 |
158 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1241893564 CA386471677 |
161 | Q>L | No |
ClinGen gnomAD |
|
|
CA6772637 CA6772635 rs376918741 |
163 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745760429 CA6772638 |
164 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA6772641 rs535034511 |
167 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000994969 rs1593321101 |
168 | S>* | No |
ClinVar dbSNP |
|
|
rs1347589641 CA386471736 |
168 | S>N | No |
ClinGen TOPMed |
|
|
CA6772642 rs200337728 |
168 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6772643 rs771786695 |
170 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs143527092 CA6772645 |
172 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6772647 rs750562166 |
173 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs765245897 CA6772646 |
173 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6772648 rs370772651 |
174 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386471779 rs1201337667 |
175 | P>A | No |
ClinGen gnomAD |
|
|
CA243397415 rs970951562 |
176 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386471807 rs1428970462 |
177 | P>L | No |
ClinGen TOPMed |
|
|
rs1195388089 CA386471812 |
178 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403531559 CA386472070 |
182 | I>T | No |
ClinGen Ensembl |
|
|
rs745764048 CA6772680 |
183 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs745764048 CA386472090 |
183 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 185 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386472134 rs1242721182 |
185 | E>K | No |
ClinGen gnomAD |
|
|
CA6772683 rs772060123 |
187 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1322661972 CA386472184 |
188 | T>A | No |
ClinGen gnomAD |
|
|
rs779824297 COSM934681 COSM934682 CA243398210 |
188 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6772684 rs779824297 |
188 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769977037 CA6772687 |
190 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA386472233 rs1444324371 |
190 | I>T | No |
ClinGen gnomAD |
|
|
rs746843730 CA6772686 |
190 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6772688 rs199547586 |
193 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749500595 CA386472327 |
194 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs749500595 CA6772689 |
194 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1441489549 CA386472335 |
195 | H>N | No |
ClinGen gnomAD |
|
|
rs1178956461 CA386472368 |
197 | G>S | No |
ClinGen gnomAD |
|
|
CA386472416 rs201388456 |
198 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386472434 rs1316703723 |
199 | G>R | No |
ClinGen gnomAD |
|
|
CA243398243 rs937956274 |
201 | L>I | No |
ClinGen TOPMed |
|
|
CA386472545 rs1267718105 |
204 | W>* | No |
ClinGen TOPMed |
|
|
rs1593321763 CA386472529 |
204 | W>G | No |
ClinGen Ensembl |
|
|
rs776102697 CA6772718 |
210 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1358573 CA386473443 rs1375530817 COSM1358574 |
214 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs764841326 CA6772723 |
214 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243398680 rs867267801 |
215 | V>G | No |
ClinGen TOPMed |
|
|
rs749923592 CA6772724 |
215 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6772727 rs751428587 |
219 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs375200239 CA6772728 |
219 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6772730 rs747960307 |
223 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1379801075 CA386473563 |
224 | N>S | No |
ClinGen TOPMed |
|
|
rs1379801075 CA386473561 |
224 | N>T | No |
ClinGen TOPMed |
|
|
rs1237858403 CA386473576 |
225 | S>F | No |
ClinGen gnomAD |
|
|
CA386473619 rs1261373572 |
228 | E>V | No |
ClinGen gnomAD |
|
|
CA6772736 rs146408261 |
229 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs747509077 CA6772737 |
230 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6772738 rs769113192 |
232 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs201146665 CA6772740 |
237 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770213494 CA6772741 |
238 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772807380 CA6772742 |
239 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342029662 CA386473768 |
240 | S>C | No |
ClinGen gnomAD |
|
|
CA6772743 rs762596814 |
240 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6772744 rs150180082 |
241 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386473813 rs1282120273 |
243 | N>T | No |
ClinGen gnomAD |
|
|
CA6772745 rs751126274 |
244 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340452939 CA386473854 |
245 | N>K | No |
ClinGen gnomAD |
|
|
rs759463984 CA6772746 |
245 | N>S | No |
ClinGen ExAC |
|
|
CA6772747 rs767395614 |
246 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767395614 CA6772748 |
246 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772751 rs750616313 |
250 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 252 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157293581 CA386474019 |
253 | L>V | No |
ClinGen Ensembl |
|
|
CA386474081 rs1593322281 |
255 | G>S | No |
ClinGen Ensembl |
|
|
CA6772754 rs747129206 |
256 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780279184 CA6772753 |
256 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256657776 CA386474194 |
259 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6772757 rs781498907 |
260 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA386474261 rs1435600835 |
262 | G>C | No |
ClinGen TOPMed |
|
|
CA6772758 rs748715864 |
263 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6772759 rs769983589 |
264 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs773577246 CA6772760 |
265 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760528403 CA6772803 |
269 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1024284655 CA243407321 |
273 | L>Q | No |
ClinGen gnomAD |
|
|
rs1400986223 CA386476067 |
276 | A>S | No |
ClinGen gnomAD |
|
|
rs373305772 CA243407345 |
277 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA386476087 rs1395194695 |
278 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139945727 CA6772809 |
279 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6772810 rs755239497 |
280 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1025463515 CA243407376 |
283 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs149153434 CA6772813 |
284 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1033628333 CA243407383 |
287 | F>L | No |
ClinGen Ensembl |
|
|
rs1593326423 CA386476178 |
287 | F>V | No |
ClinGen Ensembl |
|
|
rs376465519 CA6772814 |
289 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444559152 CA386476241 |
292 | H>L | No |
ClinGen gnomAD |
|
|
CA243407402 rs986531302 |
292 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6772816 rs370657301 |
293 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386476260 rs1262081999 |
294 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1262081999 CA386476258 |
294 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6772819 rs745495884 |
297 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414889379 CA386476349 |
302 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386476408 rs768307082 |
307 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768307082 CA6772825 |
307 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1028549282 CA243407421 |
307 | P>S | No |
ClinGen Ensembl |
|
|
CA6772827 rs761842721 |
308 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6772830 rs759670196 |
310 | W>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with P13051
[MIM: 608106]: Immunodeficiency with hyper-IgM 5 (HIGM5)
A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. {ECO:0000269|PubMed:12958596, ECO:0000269|PubMed:15967827}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. {ECO:0000269|PubMed:12958596, ECO:0000269|PubMed:15967827}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.2.2.27 | Hydrolyzing N-glycosyl compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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 |
|---|---|
| damaged DNA binding | Binding to damaged DNA. |
| ribosomal small subunit binding | Binding to a small ribosomal subunit. |
| uracil DNA N-glycosylase activity | Catalysis of the cleavage of the N-C1' glycosidic bond between the damaged DNA base and the deoxyribose sugar, releasing a free base and leaving an apyrimidinic (AP) site. Enzymes with this activity recognize and remove uracil bases in DNA that result from the deamination of cytosine or the misincorporation of dUTP opposite an adenine. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair | In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
| base-excision repair, AP site formation via deaminated base removal | A base-excision repair, AP site formation process occurring via excision of a deaminated base. |
| depyrimidination | The disruption of the bond between the sugar in the backbone and the C or T base, causing the base to be removed and leaving a depyrimidinated sugar. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| isotype switching | The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| somatic hypermutation of immunoglobulin genes | Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P97931 | Ung | Uracil-DNA glycosylase | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIGQKTLYSF | FSPSPARKRH | APSPEPAVQG | TGVAGVPEES | GDAAAIPAKK | APAGQEEPGT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPSSPLSAEQ | LDRIQRNKAA | ALLRLAARNV | PVGFGESWKK | HLSGEFGKPY | FIKLMGFVAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ERKHYTVYPP | PHQVFTWTQM | CDIKDVKVVI | LGQDPYHGPN | QAHGLCFSVQ | RPVPPPPSLE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NIYKELSTDI | EDFVHPGHGD | LSGWAKQGVL | LLNAVLTVRA | HQANSHKERG | WEQFTDAVVS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WLNQNSNGLV | FLLWGSYAQK | KGSAIDRKRH | HVLQTAHPSP | LSVYRGFFGC | RHFSKTNELL |
| 310 | |||||
| QKSGKKPIDW | KEL |