Q9UGN5
EV
Gene name |
PARP2 |
Protein name |
Poly [ADP-ribose] polymerase 2 |
Names |
CLM-8, CD300 antigen-like family member A, CMRF-35-H9, CMRF35-H9, CMRF35-H, IRC1/IRC2, Immunoglobulin superfamily member 12, IgSF12, Inhibitory receptor protein 60, IRp60, NK inhibitory receptor, PARP-2, hPARP-2, ADP-ribosyltransferase diphtheria toxin-like 2, ARTD2, DNA ADP-ribosyltransferase PARP2, NAD(+) ADP-ribosyltransferase 2, ADPRT-2, Poly[ADP-ribose] synthase 2, pADPRT-2, Protein poly-ADP-ribosyltransferase PARP2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10038 |
EC number |
2.4.2.30: Pentosyltransferases |
Protein Class |
|
Descriptions
PARP2, also known as ARTD2, is an enzyme that becomes activated by DNA damage, specifically by 5′-phosphorylated DNA ends. It catalyzes poly-ADP-ribosylation, a post-translational modification involved in DNA repair processes. PARP2 plays a crucial role in DNA damage detection and repair, with its activity being essential for maintaining genomic stability and proper cellular function in response to genotoxic stress. In its inactive state, PARP2’s regulatory domain (RD) covers the active site, preventing substrate NAD+ binding. DNA damage recognition leads to RD unfolding and reorganization, enabling the enzyme to access and modify target macromolecules for ADP-ribosylation. The activation of PARP2 by DNA damage induces significant conformational changes in the enzyme, which relieve its autoinhibited state. This allows PARP2 to bind NAD+ and histone PARylation factor 1 (HPF1), altering its residue specificity during DNA repair.
Autoinhibitory domains (AIDs)
Target domain |
356-583 (ART domain) |
Relief mechanism |
Ligand binding, Others |
Assay |
Structural analysis, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
20 structures for Q9UGN5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3KCZ | X-ray | 200 A | A/B | 235-579 | PDB |
| 3KJD | X-ray | 195 A | A/B | 235-579 | PDB |
| 4PJV | X-ray | 250 A | A/B | 235-579 | PDB |
| 4TVJ | X-ray | 210 A | A/B | 235-579 | PDB |
| 4ZZX | X-ray | 165 A | A/B | 223-583 | PDB |
| 4ZZY | X-ray | 220 A | A | 223-583 | PDB |
| 5D5K | X-ray | 190 A | B | 1-91 | PDB |
| 5DSY | X-ray | 270 A | A/B/C/D | 348-583 | PDB |
| 6F1K | X-ray | 220 A | A | 90-218 | PDB |
| 6F5B | X-ray | 280 A | A/B | 90-218 | PDB |
| 6F5F | X-ray | 298 A | A/B/C/D | 90-218 | PDB |
| 6TX3 | X-ray | 296 A | B | 323-583 | PDB |
| 6USJ | EM | 1050 A | U/V | 1-583 | PDB |
| 6X0L | EM | 390 A | P/R | 1-583 | PDB |
| 6X0M | EM | 630 A | P/p | 1-583 | PDB |
| 6X0N | EM | 1000 A | P/R | 1-583 | PDB |
| 7AEO | X-ray | 280 A | A | 90-583 | PDB |
| 7R59 | X-ray | 200 A | A | 235-583 | PDB |
| 8HE8 | X-ray | 305 A | A/B/C | 231-581 | PDB |
| AF-Q9UGN5-F1 | Predicted | AlphaFoldDB |
469 variants for Q9UGN5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA389115727 rs1206277684 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA389115813 rs1448690733 |
5 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750367087 CA7077478 |
5 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389115816 rs1448690733 |
5 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs898757585 CA257401977 |
6 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs762731089 CA7077479 |
6 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7077481 rs566133010 |
7 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7077483 rs754797447 |
7 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077482 COSM1514973 rs754797447 |
7 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756215931 CA7077485 |
8 | S>N | No |
ClinGen ExAC |
|
|
rs756215931 CA257402008 |
8 | S>T | No |
ClinGen ExAC |
|
|
rs777650803 CA389115954 |
9 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077486 rs777650803 |
9 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034133955 CA257402020 |
10 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA257402037 rs779597599 |
12 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779597599 CA389116028 |
12 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077489 rs779597599 |
12 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746201116 CA7077490 |
12 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1157146586 CA389116060 |
13 | R>G | No |
ClinGen gnomAD |
|
|
rs1415110483 CA389116118 |
14 | A>G | No |
ClinGen gnomAD |
|
|
CA389116096 rs1347928953 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs1415110483 COSM1368815 CA389116111 |
14 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7077491 rs200603922 |
15 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389116134 rs1444241687 |
15 | R>K | No |
ClinGen gnomAD |
|
|
CA389116161 rs1349582575 |
16 | A>T | No |
ClinGen gnomAD |
|
|
CA389116572 rs1290033235 |
21 | K>I | No |
ClinGen TOPMed |
|
|
rs1299062113 CA389116556 |
21 | K>Q | No |
ClinGen gnomAD |
|
|
rs370855552 CA389116592 |
22 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370855552 CA7077524 |
22 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1381122398 CA389116668 |
26 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189262397 CA389116701 |
29 | A>T | No |
ClinGen gnomAD |
|
|
CA389116750 rs1420227286 |
31 | E>D | No |
ClinGen TOPMed |
|
|
CA257402623 rs983407029 |
31 | E>G | No |
ClinGen Ensembl |
|
|
rs1247450894 CA389116794 |
33 | S>F | No |
ClinGen gnomAD |
|
|
CA389116803 rs1447608753 |
34 | S>P | No |
ClinGen gnomAD |
|
|
CA7077529 rs758917151 |
36 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077530 rs780728837 |
40 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs747294136 CA7077531 |
40 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7077533 rs777279053 |
41 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435242860 CA389116996 |
42 | C>S | No |
ClinGen gnomAD |
|
|
rs749038617 CA7077534 |
42 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389117050 rs1433531281 |
44 | R>G | No |
ClinGen gnomAD |
|
|
CA257402657 rs935283796 |
46 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7077536 rs773793994 |
46 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389117134 rs1594294552 |
47 | S>A | No |
ClinGen Ensembl |
|
|
rs1244487469 CA389117161 |
48 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA389117160 rs1244487469 |
48 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 49 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7077538 rs527404505 |
50 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs915323395 CA257402666 |
51 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 51 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209544076 CA389117255 |
52 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7077541 rs760368901 COSM1629230 |
56 | K>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7077542 rs764004387 |
56 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA389117365 rs1423083780 |
58 | N>S | No |
ClinGen gnomAD |
|
|
CA7077544 rs762055576 |
59 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077545 rs765566837 |
59 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1056533791 CA389117447 |
61 | R>G | No |
ClinGen TOPMed |
|
|
CA257402701 rs1056533791 |
61 | R>W | No |
ClinGen TOPMed |
|
|
CA389117478 rs1157867617 |
62 | T>K | No |
ClinGen gnomAD |
|
|
CA7077546 rs202077893 |
63 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758579659 CA7077547 |
64 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1305159041 CA389117558 |
65 | K>* | No |
ClinGen gnomAD |
|
|
CA7077548 rs766961437 |
66 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395916606 CA389117663 |
69 | M>V | No |
ClinGen gnomAD |
|
|
rs372717118 CA7077549 |
72 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375984083 CA7077551 |
73 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7077553 rs748477427 |
74 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA389117755 rs1594294672 |
75 | A>T | No |
ClinGen Ensembl |
|
|
rs756856213 CA7077555 |
75 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1360191454 CA389117767 |
76 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7077556 rs778570830 |
77 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1198599715 CA389117788 |
77 | K>R | No |
ClinGen gnomAD |
|
|
rs370314381 CA257402730 |
78 | R>S | No |
ClinGen ESP TOPMed |
|
|
CA7077557 rs745355084 |
78 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA389117820 rs1181081153 |
80 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7077558 rs771623005 |
81 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257402864 rs930586009 |
85 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 87 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157362137 CA389117940 |
87 | L>P | No |
ClinGen TOPMed |
|
|
CA257402883 rs200569736 |
90 | G>S | No |
ClinGen Ensembl |
|
|
rs376717123 CA7077576 |
92 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7077577 rs746511446 |
93 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385129693 CA389118034 |
95 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389118037 rs1385129693 |
95 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781021523 CA7077579 |
96 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7077580 rs747919422 |
98 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757871017 CA7077581 |
100 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203291900 CA389118112 |
101 | K>N | No |
ClinGen TOPMed |
|
|
CA257402927 rs187449178 |
102 | V>E | No |
ClinGen 1000Genomes |
|
|
rs1323220477 CA389118117 |
102 | V>L | No |
ClinGen gnomAD |
|
|
rs1323220477 CA389118119 |
102 | V>M | No |
ClinGen gnomAD |
|
|
CA7077584 rs763201653 |
103 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077585 rs771071635 |
104 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7077612 rs369388288 |
105 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772105767 CA7077611 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7077615 rs373201011 |
106 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761099507 CA7077614 |
106 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs181730432 CA7077618 |
108 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7077620 rs375880322 |
112 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257403547 rs1006223076 |
113 | D>Y | No |
ClinGen TOPMed |
|
|
rs1444656067 CA389118646 |
114 | V>I | No |
ClinGen gnomAD |
|
|
rs767202626 CA7077621 |
115 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077622 rs752270099 CA389118764 |
118 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905983683 CA257403552 |
118 | M>V | No |
ClinGen TOPMed |
|
|
CA257403559 rs908810425 |
119 | L>I | No |
ClinGen Ensembl |
|
|
rs1325100322 CA389119667 |
122 | T>N | No |
ClinGen gnomAD |
|
|
CA7077649 rs778509911 |
123 | N>D | No |
ClinGen ExAC |
|
| TCGA novel | 123 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257405168 rs1055181510 |
123 | N>S | No |
ClinGen TOPMed |
|
|
rs1435088244 CA389119694 |
124 | L>V | No |
ClinGen gnomAD |
|
|
CA7077650 rs750242561 |
125 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389119769 rs1231202642 |
127 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7077653 rs780282992 |
128 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139090502 CA7077654 |
129 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389119874 rs1377880749 |
131 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452309320 CA389119946 |
135 | Q>* | No |
ClinGen gnomAD |
|
|
CA389119947 rs768770914 |
135 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs768770914 CA7077655 |
135 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs781713766 CA7077656 |
141 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1251177694 CA389120109 |
141 | A>S | No |
ClinGen gnomAD |
|
|
CA389120103 rs1251177694 |
141 | A>T | No |
ClinGen gnomAD |
|
|
CA7077657 rs748669670 |
143 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1301003215 CA389120179 |
144 | N>S | No |
ClinGen TOPMed |
|
|
CA7077658 rs376155682 |
147 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470918286 CA389120286 |
147 | V>I | No |
ClinGen TOPMed |
|
|
rs1594299350 CA389120305 |
148 | W>* | No |
ClinGen Ensembl |
|
|
CA257405193 rs79997988 |
149 | M>L | No |
ClinGen gnomAD |
|
|
rs79997988 CA389120322 |
149 | M>V | No |
ClinGen gnomAD |
|
|
rs773400512 CA7077659 |
152 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389120432 rs1404341744 |
153 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| rs771820577 | 153 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763406681 CA7077660 |
153 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA389120600 rs1331364404 |
154 | V>A | No |
ClinGen gnomAD |
|
|
CA7077681 rs768372903 |
155 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA389120668 rs1250379869 |
157 | M>I | No |
ClinGen TOPMed |
|
|
CA7077682 rs775950956 |
158 | G>E | No |
ClinGen ExAC |
|
|
CA7077683 rs761414344 |
159 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs201231671 CA7077684 |
160 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000960551 CA7077685 rs3093905 VAR_019174 |
161 | S>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs149905379 CA7077687 |
163 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149905379 CA7077686 |
163 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7077688 rs751359170 |
165 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389120900 rs1566420559 |
166 | S>* | No |
ClinGen Ensembl |
|
|
rs865918076 CA257405348 |
167 | G>D | No |
ClinGen Ensembl |
|
|
rs3093906 CA7077689 VAR_019175 |
168 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA389120969 rs756267437 |
170 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077691 rs767812277 |
170 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767812277 CA7077690 |
170 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077695 rs148563917 |
175 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7077697 rs779365706 |
177 | Q>* | No |
ClinGen ExAC |
|
|
rs560095950 CA7077698 |
177 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190511558 CA7077723 |
179 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7077724 rs769334284 |
180 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389121894 rs1221538981 |
180 | F>Y | No |
ClinGen gnomAD |
|
|
CA389121985 rs778767947 |
184 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077726 rs778767947 |
184 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA389122023 rs1454223869 |
185 | K>R | No |
ClinGen gnomAD |
|
|
rs1040060515 CA257405753 |
187 | N>K | No |
ClinGen gnomAD |
|
|
rs1392477601 CA389122082 |
188 | W>R | No |
ClinGen gnomAD |
|
|
rs774322806 CA7077728 |
190 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371808951 CA7077729 |
191 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371808951 CA7077730 |
191 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747255217 CA257405763 |
191 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747255217 CA7077731 |
191 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488626279 CA389122223 |
192 | E>K | No |
ClinGen TOPMed |
|
|
CA7077733 rs760896567 |
193 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077734 rs375344456 |
195 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7077735 rs577289662 |
199 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077737 rs765813430 |
203 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs555936294 CA7077736 |
203 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1323177425 CA389122632 |
204 | L>P | No |
ClinGen gnomAD |
|
|
rs751022095 CA7077739 |
206 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA389122659 rs1594300612 |
206 | M>T | No |
ClinGen Ensembl |
|
|
rs369902077 CA7077740 |
208 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566421440 CA389122720 |
209 | A>T | No |
ClinGen Ensembl |
|
|
CA7077742 rs372336508 |
210 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257405792 rs375126412 |
211 | N>S | No |
ClinGen ESP TOPMed |
|
|
CA389122787 rs1165477744 |
212 | T>P | No |
ClinGen TOPMed |
|
|
rs755742881 CA7077743 |
212 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777441833 CA7077744 |
213 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077781 rs79876474 |
218 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7077783 rs762975094 |
219 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1203204535 CA389123556 |
221 | E>G | No |
ClinGen Ensembl |
|
|
CA7077785 rs562109017 |
222 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7077784 rs562109017 |
222 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389123574 rs762193060 |
223 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7077786 rs762193060 |
223 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs767801136 CA7077787 |
228 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7077788 rs753071076 |
231 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257406498 rs377699598 |
234 | L>V | No |
ClinGen ESP TOPMed |
|
|
VAR_019176 CA7077790 rs3093921 |
235 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA389123715 rs1362556952 |
237 | R>Q | No |
ClinGen TOPMed |
|
|
CA389123712 rs1215869595 |
237 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1274255185 CA389123720 |
238 | V>L | No |
ClinGen TOPMed |
|
|
CA389123741 rs1427147467 |
240 | E>K | No |
ClinGen gnomAD |
|
|
rs749913566 CA7077792 |
242 | I>K | No |
ClinGen ExAC |
|
|
CA389123767 rs757899851 |
243 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389123772 rs1239237920 |
243 | K>N | No |
ClinGen gnomAD |
|
|
rs757899851 CA7077793 COSM1607452 |
243 | K>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746989435 CA7077795 |
245 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1290445459 CA389123805 |
248 | V>I | No |
ClinGen gnomAD |
|
|
rs201349330 CA257406512 |
250 | A>G | No |
ClinGen Ensembl |
|
|
rs201349330 CA389123821 |
250 | A>V | No |
ClinGen Ensembl |
|
|
CA389123827 rs1334705332 |
251 | M>I | No |
ClinGen gnomAD |
|
|
CA7077797 rs781078323 |
251 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA257406527 rs376242359 |
253 | E>A | No |
ClinGen ESP TOPMed |
|
|
CA389123845 rs1326779388 |
254 | M>V | No |
ClinGen TOPMed |
|
|
CA7077798 rs747979536 |
260 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA389123909 rs376726395 |
261 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7077799 rs770101600 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7077800 rs773347285 |
262 | T>A | No |
ClinGen ExAC |
|
|
rs770981700 CA7077802 |
267 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA257406728 rs902186193 |
269 | K>N | No |
ClinGen Ensembl |
|
|
rs771196478 CA7077821 |
270 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7077822 rs774244546 |
272 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389123990 rs1451200918 |
273 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201498500 CA257406742 |
274 | Q>* | No |
ClinGen gnomAD |
|
|
CA7077823 rs745974870 |
275 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772533365 CA7077824 |
279 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 279 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3093925 CA389124071 |
285 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371236543 CA389124074 |
285 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371236543 CA7077826 |
285 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7077825 rs3093925 VAR_019177 |
285 | I>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA389124079 rs1460438718 |
286 | E>A | No |
ClinGen gnomAD |
|
|
CA389124084 rs1566423391 |
287 | D>N | No |
ClinGen Ensembl |
|
|
rs1442175992 CA389124094 |
288 | C>G | No |
ClinGen TOPMed |
|
|
CA257406761 rs199986271 |
288 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA257406766 rs769072188 |
290 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077830 rs769072188 |
290 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140156644 CA7077829 COSM283713 |
290 | R>W | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1461365841 CA389124122 |
293 | Q>* | No |
ClinGen gnomAD |
|
|
CA389124133 rs1375207941 |
294 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7077831 rs774975124 |
294 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077832 rs751074729 COSM1640030 |
296 | R>* | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA389124143 rs3093926 |
296 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3093926 VAR_019178 CA7077834 |
296 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1179950480 CA389124145 |
297 | A>P | No |
ClinGen TOPMed |
|
|
CA7077836 rs143908458 |
299 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7077835 rs143908458 |
299 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389124165 rs1594302758 |
300 | E>K | No |
ClinGen Ensembl |
|
|
rs918547481 CA257406790 |
302 | C>R | No |
ClinGen TOPMed |
|
|
rs918547481 CA257406784 |
302 | C>S | No |
ClinGen TOPMed |
|
|
CA7077837 rs559797488 |
303 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1346323929 CA389124192 |
303 | N>Y | No |
ClinGen TOPMed |
|
|
rs371220029 CA7077838 |
304 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7077839 rs757379983 |
306 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1353455028 CA389124226 |
306 | Y>S | No |
ClinGen TOPMed |
|
|
rs1486810734 CA389124239 |
307 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs373691226 CA7077840 |
310 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745922620 CA7077841 |
310 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1189678500 CA389124274 |
311 | H>N | No |
ClinGen gnomAD |
|
|
CA389124279 rs1395009978 |
311 | H>P | No |
ClinGen TOPMed |
|
|
rs1189678500 COSM1677844 CA389124276 |
311 | H>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780538446 CA7077843 |
314 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA389124317 rs1474646337 |
314 | G>R | No |
ClinGen gnomAD |
|
|
CA7077862 rs747138138 |
316 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7077863 rs369495700 |
316 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389125341 rs1462562585 |
317 | T>A | No |
ClinGen TOPMed |
|
|
rs1368924267 CA389125357 |
317 | T>I | No |
ClinGen TOPMed |
|
|
CA7077864 rs550174077 |
318 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs550174077 CA257407103 |
318 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1046876529 CA257407104 |
320 | L>R | No |
ClinGen gnomAD |
|
|
rs1566424072 CA389125421 |
321 | I>L | No |
ClinGen Ensembl |
|
|
CA7077866 rs61755964 |
322 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7077865 rs748438951 |
322 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745460390 CA7077868 |
324 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs771871656 CA7077869 |
324 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs775098690 CA7077870 |
325 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs760269755 CA7077871 |
327 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1015519346 CA257407112 |
327 | L>P | No |
ClinGen TOPMed |
|
|
CA389125556 rs1247723712 |
328 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389125574 rs1168178294 |
328 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7077875 VAR_050462 rs2275010 |
331 | I>T | No |
ClinGen UniProt 1000Genomes ExAC dbSNP |
|
|
CA389125638 rs1396135790 |
331 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389125656 rs1309831265 |
332 | Q>E | No |
ClinGen TOPMed |
|
|
rs764948698 CA389125670 |
332 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1368818 rs746484531 CA7077891 |
336 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1463060980 CA389125799 |
338 | G>R | No |
ClinGen gnomAD |
|
|
CA389125806 rs1566424240 |
338 | G>V | No |
ClinGen Ensembl |
|
|
rs999143826 CA257407155 |
340 | I>T | No |
ClinGen TOPMed |
|
|
rs768276578 CA7077892 |
343 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7077894 rs377506372 |
344 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200044090 CA7077896 |
348 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389125939 rs1566424279 |
349 | T>R | No |
ClinGen Ensembl |
|
|
CA389125953 rs1292961790 |
350 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954863230 CA257407182 |
352 | Q>R | No |
ClinGen TOPMed |
|
|
rs762778813 CA7077899 |
353 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 353 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334771782 CA389126006 |
354 | P>L | No |
ClinGen gnomAD |
|
|
CA257407191 rs751866875 |
356 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA7077902 rs751866875 |
356 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA389126034 rs1194207945 |
356 | H>Q | No |
ClinGen TOPMed |
|
|
rs755009538 CA7077903 |
357 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs3093929 CA257407198 |
358 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3093929 CA389126051 |
358 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7077905 rs752741079 |
359 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7077907 rs756646962 |
360 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7077910 rs757752103 |
361 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7077909 rs749645183 |
361 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077911 rs779563924 |
363 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA389126122 rs1331378142 |
364 | N>H | No |
ClinGen TOPMed |
|
|
rs1345610895 CA389126136 |
365 | L>Q | No |
ClinGen gnomAD |
|
|
CA7077913 rs768210079 |
366 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA257407224 rs964161801 |
368 | A>D | No |
ClinGen Ensembl |
|
|
CA7077914 rs780709224 |
368 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199837737 CA7077915 COSM954202 |
370 | R>C | Variant assessed as Somatic; 0.0004638 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370394530 CA7077919 |
370 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs201167331 CA7077921 |
371 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389126172 rs1433818640 |
371 | P>S | No |
ClinGen TOPMed |
|
|
rs1046972597 CA257407237 |
373 | D>N | No |
ClinGen Ensembl |
|
|
CA7077924 rs759754777 |
374 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs774029900 CA7077923 |
374 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1284243985 CA389126239 |
376 | S>N | No |
ClinGen gnomAD |
|
|
TCGA novel CA7077925 rs767661756 |
376 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs3093930 CA389126262 |
377 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760883631 CA7077928 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760883631 CA7077927 |
378 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1471834179 CA389126293 |
380 | K>E | No |
ClinGen gnomAD |
|
|
CA389126300 rs757840139 |
380 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7077930 rs757840139 |
380 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs903162076 CA257407364 |
381 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389126388 rs1373714047 |
384 | Q>E | No |
ClinGen gnomAD |
|
|
CA257407373 rs934659681 |
384 | Q>P | No |
ClinGen TOPMed |
|
|
CA7077952 rs758742046 |
387 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7077953 rs767186948 |
390 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1230422597 CA389126508 |
393 | T>I | No |
ClinGen TOPMed |
|
|
CA7077955 rs369416638 |
396 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077956 rs777215188 |
397 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077957 rs748826747 |
399 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257407394 rs866030053 |
399 | M>V | No |
ClinGen gnomAD |
|
|
rs368893900 CA7077958 |
400 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA257407416 rs932647757 |
401 | L>F | No |
ClinGen TOPMed |
|
|
rs1375665638 CA389126641 |
406 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771825887 CA7077962 |
411 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs200082490 CA7077963 |
412 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389126787 rs1192649769 |
416 | F>S | No |
ClinGen TOPMed |
|
|
CA389126815 rs1566424741 |
418 | E>G | No |
ClinGen Ensembl |
|
|
CA389126842 rs1283794273 |
420 | L>I | No |
ClinGen gnomAD |
|
|
CA389126858 rs1397364469 |
421 | H>R | No |
ClinGen gnomAD |
|
|
rs769025824 CA7077966 |
423 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA257407533 rs934754240 |
423 | R>S | No |
ClinGen Ensembl |
|
|
CA257407437 rs769413066 |
423 | R>T | No |
ClinGen Ensembl |
|
|
CA7077988 rs773346054 |
424 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1191202571 CA389126934 |
424 | M>L | No |
ClinGen TOPMed |
|
|
rs375761490 CA7077989 |
425 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257407544 rs1051760466 |
426 | L>V | No |
ClinGen gnomAD |
|
|
CA257407548 rs902190105 |
429 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7077992 rs370051146 |
432 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA257407553 rs999207332 |
434 | N>K | No |
ClinGen TOPMed |
|
|
rs763721911 CA7077994 COSM432793 |
435 | W>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761527099 CA7077996 |
437 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7077995 rs753497216 |
437 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7077997 rs764592247 |
439 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7077998 rs749968626 |
440 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs373506109 CA257407567 |
441 | H>R | No |
ClinGen ESP gnomAD |
|
|
CA7077999 rs758373838 |
441 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7078000 rs780183224 |
442 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7078002 COSM1677846 rs553724644 |
444 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7078003 rs151059730 |
444 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1239604992 CA389127221 |
446 | A>V | No |
ClinGen gnomAD |
|
|
rs748252703 CA7078004 |
448 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257407578 rs748252703 |
448 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 448 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355400101 CA389127267 |
450 | A>G | No |
ClinGen TOPMed |
|
|
CA389127268 rs1355400101 |
450 | A>V | No |
ClinGen TOPMed |
|
|
rs777667006 CA7078006 |
451 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA389127288 rs1482695924 |
452 | I>F | No |
ClinGen gnomAD |
|
|
CA389127302 rs1360523599 |
452 | I>M | No |
ClinGen TOPMed |
|
|
rs749424498 CA7078007 |
455 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749424498 CA389127357 |
455 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404908022 CA389127367 |
456 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7078008 rs372706750 |
456 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7078028 rs778965285 |
460 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA257407705 rs895459962 |
461 | I>V | No |
ClinGen Ensembl |
|
|
CA7078029 rs746312385 |
462 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772586805 CA7078031 |
464 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7078033 rs775674866 |
466 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389127624 rs1433898459 |
466 | M>T | No |
ClinGen TOPMed |
|
|
CA389127619 rs775674866 |
466 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250400833 CA389127646 |
467 | S>F | No |
ClinGen TOPMed |
|
|
rs1217519702 CA389127708 |
470 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM255301 CA7078035 rs141397361 |
472 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7078037 rs771462645 |
474 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762551959 CA389127791 |
475 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA7078038 rs762551959 |
475 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1189741161 CA389127801 |
476 | A>P | No |
ClinGen gnomAD |
|
|
rs1343848734 CA389127810 |
477 | S>P | No |
ClinGen TOPMed |
|
|
CA7078039 rs765921135 |
478 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7078040 rs374752884 |
478 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7078042 rs74485011 |
481 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA257407725 rs969035122 |
481 | N>S | No |
ClinGen TOPMed |
|
|
CA389127934 rs1165358783 |
486 | L>V | No |
ClinGen gnomAD |
|
|
rs1594304817 CA389127944 |
487 | L>V | No |
ClinGen Ensembl |
|
|
CA7078044 rs752411615 |
488 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755992947 CA7078045 |
489 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA389128053 rs1318843844 |
493 | G>R | No |
ClinGen TOPMed |
|
|
CA7078066 rs1128782 |
494 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7078067 rs763887814 |
494 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs753651687 CA7078068 |
495 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1414615715 CA389128118 |
499 | L>P | No |
ClinGen gnomAD |
|
|
CA7078070 rs185139105 |
501 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1389417811 CA389128135 |
502 | N>H | No |
ClinGen TOPMed |
|
|
rs533876557 CA7078071 |
502 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389128143 rs558330340 |
503 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7078072 rs558330340 |
503 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368255582 CA7078075 |
506 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389128177 rs1220024404 |
507 | G>V | No |
ClinGen gnomAD |
|
|
CA7078076 rs569548648 |
509 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748555858 CA7078077 |
510 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389128243 rs1238732396 |
513 | H>R | No |
ClinGen gnomAD |
|
|
rs1566425575 CA389128236 |
513 | H>Y | No |
ClinGen Ensembl |
|
|
CA389128263 rs1243854961 |
515 | T>A | No |
ClinGen gnomAD |
|
|
rs1457230647 CA389128269 |
515 | T>I | No |
ClinGen gnomAD |
|
|
rs1243854961 CA389128264 |
515 | T>S | No |
ClinGen gnomAD |
|
|
CA389128321 rs576656897 |
520 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372400226 CA7078082 |
520 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389128317 rs372400226 |
520 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7078084 rs566045414 |
522 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760607364 CA7078086 |
523 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768504414 CA7078087 |
526 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7078088 rs776376567 |
527 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7078090 rs376772112 |
529 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750714576 CA7078091 |
530 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343070894 CA389128422 |
531 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA389128527 rs1207040631 |
539 | G>E | No |
ClinGen TOPMed |
|
|
rs1443547937 CA389128525 |
539 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 541 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389128548 rs1189384101 |
542 | S>N | No |
ClinGen gnomAD |
|
|
rs759586152 CA7078113 |
544 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA389128608 rs1473372589 |
548 | N>I | No |
ClinGen gnomAD |
|
|
rs768132981 CA7078114 |
549 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs768132981 CA389128612 |
549 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 553 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 553 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778234957 CA7078117 |
554 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA389128698 rs369136441 |
557 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7078119 rs369136441 |
557 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257407985 rs375443011 |
559 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs746512475 CA7078121 |
561 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA257407993 rs778289467 |
564 | P>S | No |
ClinGen TOPMed |
|
|
rs748025129 CA7078124 |
565 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA257407997 rs201953130 |
566 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1355549155 CA389128810 |
566 | Q>P | No |
ClinGen gnomAD |
|
|
CA389128826 rs1394831329 |
568 | R>C | No |
ClinGen gnomAD |
|
|
CA7078126 rs774318677 |
568 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201675638 CA389128835 |
569 | M>T | No |
ClinGen gnomAD |
|
|
CA7078127 rs749078070 |
569 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7078129 rs774497167 |
570 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7078128 rs761738969 COSM954212 |
570 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1426602076 CA389128877 |
573 | L>F | No |
ClinGen TOPMed |
|
|
rs1383820536 CA389128924 |
577 | F>L | No |
ClinGen gnomAD |
|
|
CA389128927 rs1441904625 |
578 | N>D | No |
ClinGen gnomAD |
|
|
CA389128969 rs1159577029 |
580 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 581 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389092720 rs1379923021 |
582 | L>P | No |
ClinGen gnomAD |
|
|
CA389092718 rs1176535612 |
582 | L>V | No |
ClinGen TOPMed |
|
|
CA389092730 rs1418036658 |
583 | W>C | No |
ClinGen gnomAD |
No associated diseases with Q9UGN5
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.2.30 | Pentosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| damaged DNA binding | Binding to damaged DNA. |
| NAD DNA ADP-ribosyltransferase activity | Catalysis of the transfer of the ADP-ribose group of NAD+ to a residue in double-stranded DNA. |
| NAD+ ADP-ribosyltransferase activity | Catalysis of the reaction: NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor. |
| NAD+- protein-aspartate ADP-ribosyltransferase activity | Catalysis of the reaction: L-aspartyl- + NAD(+) = 4-O-(ADP-D-ribosyl)-L-aspartyl- |
| NAD+-protein ADP-ribosyltransferase activity | Catalysis of the reaction: amino acyl- + NAD+ = H+ + (ADP-D-ribosyl)-amino acyl- |
| NAD+-protein-glutamate ADP-ribosyltransferase activity | Catalysis of the reaction: L-glutamyl- + NAD(+) = 5-O-(ADP-D-ribosyl)-L-glutamyl- |
| NAD+-protein-serine ADP-ribosyltransferase activity | Catalysis of the reaction: L-seryl- + NAD(+) = H(+) + nicotinamide + O-(ADP-D-ribosyl)-L-seryl- |
| nucleosome binding | Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| poly-ADP-D-ribose binding | Binding to polymeric ADP-D-ribose, a polymer that is composed of poly-ADP-D-ribose units linked through 1,2-glycosidic bonds at the ribose ring. |
12 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. |
| decidualization | The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta. |
| DNA ADP-ribosylation | The covalent attachment of an ADP-ribosyl group to a residue in double-stranded DNA. |
| 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. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| extrinsic apoptotic signaling pathway | The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered. |
| histone modification | The covalent alteration of one or more amino acid residues within a histone protein. |
| negative regulation of neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. |
| positive regulation of cell growth involved in cardiac muscle cell development | Any process that increases the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. |
| protein ADP-ribosylation | The transfer, from NAD, of ADP-ribose to protein amino acids. |
| protein auto-ADP-ribosylation | The ADP-ribosylation by a protein of one or more of its own amino acid residues, or residues on an identical protein. |
| protein poly-ADP-ribosylation | The transfer of multiple ADP-ribose residues from NAD to a protein amino acid, forming a poly(ADP-ribose) chain. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P18493 | PARP1 | Poly [ADP-ribose] polymerase 1 | Bos taurus (Bovine) | SS |
| P26446 | PARP1 | Poly [ADP-ribose] polymerase 1 | Gallus gallus (Chicken) | SS |
| P35875 | Parp | Poly [ADP-ribose] polymerase | Drosophila melanogaster (Fruit fly) | SS |
| Q9Y6F1 | PARP3 | Protein mono-ADP-ribosyltransferase PARP3 | Homo sapiens (Human) | PR |
| P09874 | PARP1 | Poly [ADP-ribose] polymerase 1 | Homo sapiens (Human) | SS |
| O50017 | PARP2 | Poly [ADP-ribose] polymerase 2 | Zea mays (Maize) | SS |
| P11103 | Parp1 | Poly [ADP-ribose] polymerase 1 | Mus musculus (Mouse) | SS |
| O88554 | Parp2 | Poly [ADP-ribose] polymerase 2 | Mus musculus (Mouse) | SS |
| P27008 | Parp1 | Poly [ADP-ribose] polymerase 1 | Rattus norvegicus (Rat) | SS |
| Q0JMY1 | PARP2-B | Poly [ADP-ribose] polymerase 2-B | Oryza sativa subsp. japonica (Rice) | SS |
| Q5Z8Q9 | PARP2-A | Poly [ADP-ribose] polymerase 2-A | Oryza sativa subsp. japonica (Rice) | SS |
| Q11207 | PARP2 | Poly [ADP-ribose] polymerase 2 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9ZP54 | PARP1 | Poly [ADP-ribose] polymerase 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5RHR0 | parp1 | Poly [ADP-ribose] polymerase 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAARRRRSTG | GGRARALNES | KRVNNGNTAP | EDSSPAKKTR | RCQRQESKKM | PVAGGKANKD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RTEDKQDGMP | GRSWASKRVS | ESVKALLLKG | KAPVDPECTA | KVGKAHVYCE | GNDVYDVMLN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QTNLQFNNNK | YYLIQLLEDD | AQRNFSVWMR | WGRVGKMGQH | SLVACSGNLN | KAKEIFQKKF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LDKTKNNWED | REKFEKVPGK | YDMLQMDYAT | NTQDEEETKK | EESLKSPLKP | ESQLDLRVQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LIKLICNVQA | MEEMMMEMKY | NTKKAPLGKL | TVAQIKAGYQ | SLKKIEDCIR | AGQHGRALME |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ACNEFYTRIP | HDFGLRTPPL | IRTQKELSEK | IQLLEALGDI | EIAIKLVKTE | LQSPEHPLDQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HYRNLHCALR | PLDHESYEFK | VISQYLQSTH | APTHSDYTMT | LLDLFEVEKD | GEKEAFREDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HNRMLLWHGS | RMSNWVGILS | HGLRIAPPEA | PITGYMFGKG | IYFADMSSKS | ANYCFASRLK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NTGLLLLSEV | ALGQCNELLE | ANPKAEGLLQ | GKHSTKGLGK | MAPSSAHFVT | LNGSTVPLGP |
| 550 | 560 | 570 | 580 | ||
| ASDTGILNPD | GYTLNYNEYI | VYNPNQVRMR | YLLKVQFNFL | QLW |