Q9Y6F1
Gene name |
PARP3 |
Protein name |
Protein mono-ADP-ribosyltransferase PARP3 |
Names |
ADP-ribosyltransferase diphtheria toxin-like 3, ARTD3, DNA ADP-ribosyltransferase PARP3, IRT1, NAD(+) ADP-ribosyltransferase 3, ADPRT-3, Poly [ADP-ribose] polymerase 3, PARP-3, hPARP-3, Poly[ADP-ribose] synthase 3, pADPRT-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10039 |
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

17 structures for Q9Y6F1
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2EOC | NMR | - | A | 41-157 | PDB |
3C49 | X-ray | 280 A | A | 178-532 | PDB |
3C4H | X-ray | 210 A | A | 178-532 | PDB |
3CE0 | X-ray | 280 A | A | 178-532 | PDB |
3FHB | X-ray | 230 A | A | 178-532 | PDB |
4GV0 | X-ray | 190 A | A | 178-532 | PDB |
4GV2 | X-ray | 180 A | A | 178-532 | PDB |
4GV4 | X-ray | 180 A | A | 178-532 | PDB |
4L6Z | X-ray | 200 A | A | 178-532 | PDB |
4L70 | X-ray | 200 A | A | 178-532 | PDB |
4L7L | X-ray | 210 A | A | 178-532 | PDB |
4L7N | X-ray | 180 A | A | 178-532 | PDB |
4L7O | X-ray | 200 A | A | 178-532 | PDB |
4L7P | X-ray | 230 A | A | 178-532 | PDB |
4L7R | X-ray | 220 A | A | 178-532 | PDB |
4L7U | X-ray | 280 A | A | 178-532 | PDB |
AF-Q9Y6F1-F1 | Predicted | AlphaFoldDB |
490 variants for Q9Y6F1
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA74681261 rs866112543 |
2 | A>D | No |
ClinGen Ensembl |
|
rs918761252 CA353042434 |
2 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA74681259 rs918761252 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
RCV000896799 rs61729070 CA2426629 |
5 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61729070 CA2426630 |
5 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2426628 rs751167668 |
5 | P>S | No |
ClinGen ExAC gnomAD |
|
rs745627499 CA2426631 |
7 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756022423 CA2426632 |
8 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1363493692 CA353042524 |
10 | Q>L | No |
ClinGen gnomAD |
|
CA353042550 rs780025809 |
12 | E>D | No |
ClinGen ExAC gnomAD |
|
CA353042557 rs1577655831 |
13 | G>V | No |
ClinGen Ensembl |
|
rs768712096 CA2426635 |
14 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778869919 CA2426638 |
15 | E>V | No |
ClinGen ExAC gnomAD |
|
CA2426640 rs189015907 |
16 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1246056358 CA353042627 |
19 | G>D | No |
ClinGen gnomAD |
|
CA2426641 rs773475379 |
19 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426643 rs559905723 |
20 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2426644 rs777130796 |
20 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs559905723 CA2426642 |
20 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1424103029 CA353042644 |
22 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1368283028 CA353042653 |
23 | G>E | No |
ClinGen TOPMed |
|
rs1043360310 CA353042658 |
24 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA74681376 rs1043360310 |
24 | R>T | No |
ClinGen TOPMed gnomAD |
|
CA2426649 rs767255898 |
26 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1387637076 CA353042670 |
26 | E>K | No |
ClinGen TOPMed |
|
CA353042679 rs1275794552 |
27 | D>A | No |
ClinGen gnomAD |
|
CA2426650 rs750156231 |
27 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1298521980 CA353042687 |
28 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA2426651 rs755967363 |
29 | F>I | No |
ClinGen ExAC gnomAD |
|
CA353042695 rs1404408798 |
29 | F>L | No |
ClinGen TOPMed |
|
CA2426652 rs779715407 |
30 | R>C | No |
ClinGen ExAC gnomAD |
|
CA2426653 rs377163298 |
30 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377163298 CA353042700 |
30 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2426655 rs754890031 |
32 | T>I | No |
ClinGen ExAC gnomAD |
|
rs370350966 CA2426658 |
33 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2426657 rs748207351 |
33 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74681458 rs748207351 |
33 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2426662 rs1553715940 CA353042720 |
34 | E>D | No |
ClinGen Ensembl |
|
rs777971460 CA353042715 |
34 | E>K | No |
ClinGen ExAC gnomAD |
|
rs777971460 CA2426660 |
34 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA74681524 rs368760022 |
37 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2426665 rs368760022 |
37 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353042735 rs1156310266 |
37 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA74681536 rs896284708 |
38 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1577656040 CA353042743 |
38 | A>V | No |
ClinGen Ensembl |
|
CA2426666 rs371068434 |
40 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA353042751 rs1407550102 |
40 | P>S | No |
ClinGen gnomAD |
|
CA2426668 rs77898224 RCV000972704 |
41 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2426669 rs77898224 |
41 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353042760 rs998111620 |
42 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA74681556 rs998111620 |
42 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1030523241 CA74681574 |
42 | E>V | No |
ClinGen TOPMed gnomAD |
|
rs1227928596 CA353042773 |
43 | K>N | No |
ClinGen gnomAD |
|
rs368341120 CA2426670 |
44 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74681590 rs1007682490 |
44 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA353042775 rs1007682490 |
44 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs368341120 CA74681582 |
44 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1340942562 CA353042785 |
46 | I>V | No |
ClinGen TOPMed |
|
CA2426672 rs750029311 |
47 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426673 rs781073336 |
47 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781073336 CA74681617 |
47 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375373643 CA2426675 |
48 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1179448538 CA353042838 |
51 | T>I | No |
ClinGen gnomAD |
|
CA353042831 rs1482514759 |
51 | T>P | No |
ClinGen gnomAD |
|
CA353042842 rs1472816252 |
52 | C>R | No |
ClinGen TOPMed gnomAD |
|
CA2426677 rs778812042 |
52 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74681628 rs919190481 |
56 | S>N | No |
ClinGen gnomAD |
|
CA353042919 rs1187863259 |
58 | P>R | No |
ClinGen TOPMed |
|
CA74681651 rs994226115 |
59 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA2426682 rs757453925 |
59 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2426684 rs746194544 |
61 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA2426685 rs367991633 |
61 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74682011 rs933680407 |
63 | Y>F | No |
ClinGen Ensembl |
|
rs1345270594 CA353043322 |
64 | E>* | No |
ClinGen gnomAD |
|
rs1345270594 CA353043308 |
64 | E>K | No |
ClinGen gnomAD |
|
rs751564378 CA2426698 |
68 | C>R | No |
ClinGen ExAC gnomAD |
|
CA353043407 rs1275859385 |
68 | C>Y | No |
ClinGen gnomAD |
|
CA353043443 rs1211152599 |
71 | N>H | No |
ClinGen gnomAD |
|
rs746166733 CA2426701 |
72 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs781255408 CA2426700 |
72 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA353043524 rs1025059167 |
75 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA353043529 rs1471197112 |
75 | I>T | No |
ClinGen TOPMed |
|
CA74682074 rs1025059167 |
75 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA2426703 rs756366078 |
76 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs780577794 CA2426705 |
78 | N>S | No |
ClinGen ExAC gnomAD |
|
CA353043625 rs1559746986 |
79 | N>S | No |
ClinGen Ensembl |
|
rs1255157273 CA353043650 |
80 | N>S | No |
ClinGen TOPMed |
|
rs552254917 CA2426706 |
81 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs769313993 CA2426707 |
83 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1468324474 CA353043711 |
83 | Y>H | No |
ClinGen TOPMed |
|
rs910827312 CA353043756 |
85 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA2426708 rs775035411 |
87 | L>P | No |
ClinGen ExAC gnomAD |
|
CA2426709 VAR_056643 rs34224216 |
91 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1303112420 CA353043870 |
92 | N>K | No |
ClinGen gnomAD |
|
CA2426710 rs770544626 |
93 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426712 rs745485603 |
93 | R>H | No |
ClinGen ExAC TOPMed |
|
rs745485603 CA2426713 |
93 | R>L | No |
ClinGen ExAC TOPMed |
|
CA2426714 rs759244368 |
94 | F>L | No |
ClinGen ExAC |
|
CA2426716 rs764966907 |
96 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1272668841 CA353043920 |
96 | T>I | No |
ClinGen gnomAD |
|
CA2426715 rs764966907 |
96 | T>S | No |
ClinGen ExAC gnomAD |
|
CA2426718 rs763997868 |
97 | C>F | No |
ClinGen ExAC gnomAD |
|
CA353043952 rs1269394296 |
99 | N>H | No |
ClinGen gnomAD |
|
CA2426719 rs751570746 |
100 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_054622 rs28547534 CA74682171 |
100 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA353043976 rs28547534 |
100 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353043984 rs1452507037 |
101 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA353043977 rs1269869991 |
101 | W>R | No |
ClinGen gnomAD |
|
rs1466029720 CA353043999 |
102 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1322449143 CA353043994 |
102 | G>S | No |
ClinGen TOPMed |
|
CA2426721 rs372767757 |
103 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2426722 rs372767757 |
103 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74682189 rs1047814977 |
103 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA74682212 rs556624982 |
104 | V>A | No |
ClinGen gnomAD |
|
rs756424008 CA2426723 |
104 | V>M | No |
ClinGen ExAC gnomAD |
|
CA2426741 rs190579855 |
107 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA353044107 rs190579855 |
107 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs770324920 CA2426744 |
108 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs541784687 CA353044177 |
112 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1577657312 CA353044168 |
112 | I>V | No |
ClinGen Ensembl |
|
CA353044237 rs1315438963 |
116 | T>I | No |
ClinGen gnomAD |
|
CA353044265 rs1245767035 |
118 | L>P | No |
ClinGen gnomAD |
|
rs1234254456 CA353044275 |
119 | E>G | No |
ClinGen TOPMed |
|
rs1559747197 | 123 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353044331 rs1436997381 |
123 | K>E | No |
ClinGen TOPMed |
|
CA74682339 rs943565070 |
125 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA2426748 rs754168916 |
125 | F>S | No |
ClinGen ExAC gnomAD |
|
rs553698927 CA2426751 |
127 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1423151040 CA353044408 |
127 | K>N | No |
ClinGen gnomAD |
|
CA2426752 rs753100599 |
129 | F>L | No |
ClinGen ExAC gnomAD |
|
CA353044460 rs778185003 |
130 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426754 rs778185003 |
130 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1046776 rs146036726 CA2426753 |
130 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA2426756 rs139794805 |
134 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353044552 rs1380583136 |
135 | N>K | No |
ClinGen gnomAD |
|
rs1281474780 CA353044568 |
136 | N>I | No |
ClinGen TOPMed |
|
rs768381965 CA2426759 |
137 | W>C | No |
ClinGen ExAC gnomAD |
|
CA2426758 rs200132301 |
137 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353044577 rs1346236394 |
137 | W>R | No |
ClinGen Ensembl |
|
CA353044629 rs761611493 |
140 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761611493 CA2426761 |
140 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426760 rs201155006 |
140 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2426762 rs772010324 |
141 | D>H | No |
ClinGen ExAC gnomAD |
|
CA2426764 rs760822264 |
142 | H>R | No |
ClinGen ExAC gnomAD |
|
CA2426763 rs773069122 |
142 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA2426765 rs368155703 |
144 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
CA353044762 rs1201709393 |
145 | S>C | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 145 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2426769 rs765482748 |
146 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426767 rs200304190 |
146 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs758739863 CA2426770 |
147 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1434515174 CA353044800 |
148 | G>D | No |
ClinGen gnomAD |
|
rs1177399444 CA353044836 |
149 | K>N | No |
ClinGen TOPMed |
|
CA2426775 rs142065339 |
153 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs755552511 CA2426773 |
153 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1538120 CA353044905 rs755552511 |
153 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1230843513 CA353044896 |
153 | I>V | No |
ClinGen TOPMed |
|
rs556975187 CA2426776 |
154 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2426777 rs778466941 |
155 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1391466373 CA353045005 |
159 | D>N | No |
ClinGen gnomAD |
|
rs1436357016 CA353045033 |
160 | E>G | No |
ClinGen gnomAD |
|
CA2426778 rs747949223 |
166 | V>M | No |
ClinGen ExAC gnomAD |
|
rs767985528 CA2426811 |
168 | V>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 169 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750983836 CA2426812 |
170 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1351198757 CA353045476 |
171 | G>D | No |
ClinGen gnomAD |
|
rs764655833 CA2426814 |
172 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752348794 CA2426816 |
173 | V>L | No |
ClinGen ExAC gnomAD |
|
rs752348794 CA2426815 |
173 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1228725541 CA353045533 |
174 | R>G | No |
ClinGen gnomAD |
|
CA2426817 rs777612680 |
175 | T>A | No |
ClinGen ExAC gnomAD |
|
CA353045600 rs1559747444 |
177 | T>I | No |
ClinGen Ensembl |
|
CA2426818 rs751381329 |
178 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426820 rs557304982 |
179 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs371449435 CA2426819 COSM3696176 |
179 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA353045693 rs1231731736 |
182 | P>L | No |
ClinGen gnomAD |
|
rs1467826738 CA353045688 |
182 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs769855939 CA2426822 |
184 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353045748 rs1385031033 |
185 | L>R | No |
ClinGen gnomAD |
|
rs749485749 CA2426824 |
186 | D>V | No |
ClinGen ExAC gnomAD |
|
CA74682826 rs868070734 |
188 | A>D | No |
ClinGen Ensembl |
|
CA353045803 rs868070734 |
188 | A>V | No |
ClinGen Ensembl |
|
rs774600519 CA2426826 |
190 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1326913758 CA353045833 |
190 | Q>R | No |
ClinGen gnomAD |
|
rs1255736845 CA353045843 |
191 | K>E | No |
ClinGen TOPMed |
|
CA2426827 rs762148437 |
192 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1252295316 CA353045913 |
196 | I>T | No |
ClinGen TOPMed |
|
CA353045908 rs1448706323 |
196 | I>V | No |
ClinGen gnomAD |
|
rs936686024 CA74682859 |
198 | S>G | No |
ClinGen TOPMed |
|
CA2426828 rs772488674 |
198 | S>N | No |
ClinGen ExAC gnomAD |
|
CA353045996 rs1316539453 |
201 | M>I | No |
ClinGen TOPMed |
|
CA2426833 rs762577128 |
206 | M>I | No |
ClinGen ExAC gnomAD |
|
CA2426832 rs752121357 |
206 | M>T | No |
ClinGen ExAC gnomAD |
|
CA2426831 rs200955531 |
206 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353046069 rs1280086813 |
207 | A>T | No |
ClinGen gnomAD |
|
CA353046099 rs1243002033 |
209 | M>K | No |
ClinGen TOPMed gnomAD |
|
CA353046101 rs1243002033 |
209 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA2426835 rs751324062 |
209 | M>V | No |
ClinGen ExAC gnomAD |
|
CA2426836 rs757047542 |
210 | D>G | No |
ClinGen ExAC gnomAD |
|
CA74682876 rs867995336 |
211 | L>M | No |
ClinGen gnomAD |
|
CA353046125 rs867995336 |
211 | L>V | No |
ClinGen gnomAD |
|
rs773482557 CA2426848 |
213 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1421062246 CA353046214 |
215 | K>E | No |
ClinGen TOPMed |
|
CA2426850 rs761144798 |
216 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 217 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2426851 rs771324673 |
217 | P>T | No |
ClinGen ExAC gnomAD |
|
CA353046276 rs1559747597 |
219 | G>E | No |
ClinGen Ensembl |
|
CA2426855 rs763703635 |
220 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74683007 rs1051490353 |
222 | S>N | No |
ClinGen Ensembl |
|
rs761582982 CA353046311 CA2426857 |
222 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1345737446 CA353046312 |
223 | K>Q | No |
ClinGen gnomAD |
|
CA353046333 rs1280777501 |
224 | Q>* | No |
ClinGen gnomAD |
|
rs1335922542 CA353046343 |
224 | Q>H | No |
ClinGen TOPMed |
|
rs750153146 CA2426859 |
225 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs750153146 CA353046347 |
225 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426862 rs766208894 |
225 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs755984921 CA2426860 |
225 | Q>L | No |
ClinGen ExAC TOPMed |
|
rs753879087 CA2426863 |
226 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149821166 CA2426866 |
228 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs564192189 CA2426864 |
228 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2426868 rs200544465 |
231 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200544465 CA2426869 |
231 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353046447 rs1490568612 |
232 | A>V | No |
ClinGen gnomAD |
|
rs199681575 CA2426872 |
235 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774027071 CA2426875 |
236 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761446569 CA2426876 |
240 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs995264319 CA74683148 |
241 | K>N | No |
ClinGen Ensembl |
|
CA353046553 rs1423643511 |
242 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1025275811 CA74683150 |
242 | G>S | No |
ClinGen Ensembl |
|
rs1423643511 CA353046556 |
242 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs375713100 CA2426878 |
244 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760383165 CA2426879 |
244 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760383165 CA2426880 |
244 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758563354 CA2426885 |
251 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1329214709 CA353046713 |
254 | S>P | No |
ClinGen TOPMed |
|
rs747264733 CA2426888 |
255 | S>A | No |
ClinGen ExAC gnomAD |
|
CA2426889 rs371960861 |
256 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353046747 rs1292800378 |
256 | H>Y | No |
ClinGen gnomAD |
|
rs781639763 CA2426890 |
257 | F>L | No |
ClinGen ExAC gnomAD |
|
CA353046824 rs1385834154 |
259 | T>I | No |
ClinGen TOPMed |
|
CA353046812 rs1577658459 |
259 | T>P | No |
ClinGen Ensembl |
|
CA2426892 rs369155045 |
260 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs778334099 CA2426894 |
261 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353046851 rs1189488920 |
261 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA2426895 rs79176238 |
262 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA74683307 rs762278473 |
262 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1376425597 CA353046912 |
264 | N>K | No |
ClinGen TOPMed |
|
CA2426898 rs770580933 |
266 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353046954 rs1559747758 |
267 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
VAR_056644 rs323870 CA2426899 |
269 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2426900 rs759376439 |
270 | P>T | No |
ClinGen ExAC gnomAD |
|
COSM1424317 rs752698881 CA2426902 |
271 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs765147770 CA2426901 |
271 | P>S | No |
ClinGen ExAC gnomAD |
|
CA2426904 rs764250768 |
274 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751685874 CA2426905 |
276 | P>S | No |
ClinGen ExAC gnomAD |
|
CA353047072 rs1479672420 |
277 | E>K | No |
ClinGen gnomAD |
|
CA2426906 rs373954134 |
280 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74683353 rs912447475 |
280 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA353047097 rs1460756249 |
281 | A>T | No |
ClinGen gnomAD |
|
CA353047112 rs1577658602 |
283 | K>E | No |
ClinGen Ensembl |
|
rs1428714096 CA353047118 |
283 | K>N | No |
ClinGen gnomAD |
|
rs780698146 CA2426910 |
284 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1039524045 CA74683373 |
285 | M>T | No |
ClinGen TOPMed |
|
CA353047141 rs1398246598 |
287 | L>Q | No |
ClinGen TOPMed |
|
rs1246069994 CA353047155 |
288 | V>L | No |
ClinGen TOPMed |
|
CA2426932 rs147106158 |
290 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370705194 CA353047176 |
291 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353047174 rs1559747998 |
291 | D>V | No |
ClinGen Ensembl |
|
rs780756887 CA353047182 |
292 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74683629 rs912573993 |
292 | I>S | No |
ClinGen Ensembl |
|
CA2426936 rs185963971 |
293 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2426937 rs185963971 |
293 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1236983775 CA353047198 |
295 | A>D | No |
ClinGen TOPMed |
|
rs1292383963 CA353047208 |
297 | A>T | No |
ClinGen Ensembl |
|
rs1410800673 CA353047221 |
299 | Q>* | No |
ClinGen gnomAD |
|
rs367711623 CA74683657 |
302 | S>C | No |
ClinGen ESP |
|
CA353047252 rs1368847177 |
304 | Q>K | No |
ClinGen TOPMed |
|
rs1401706763 CA353047256 |
304 | Q>R | No |
ClinGen gnomAD |
|
CA2426940 rs768613911 |
306 | K>R | No |
ClinGen ExAC gnomAD |
|
CA2426941 rs774210062 COSM3696177 |
307 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA2426943 rs573971821 |
308 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs773510395 CA2426944 |
309 | E>G | No |
ClinGen ExAC gnomAD |
|
CA353047287 rs1298401829 |
309 | E>Q | No |
ClinGen TOPMed |
|
CA2426945 rs760998871 |
310 | E>K | No |
ClinGen ExAC gnomAD |
|
CA353047296 rs1418679590 |
310 | E>V | No |
ClinGen TOPMed |
|
CA353047302 rs1577659038 |
311 | V>G | No |
ClinGen Ensembl |
|
CA353047307 rs1267960887 |
312 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA74683682 rs74982310 |
313 | H>D | No |
ClinGen Ensembl |
|
CA353047313 rs1577659057 |
313 | H>P | No |
ClinGen Ensembl |
|
CA2426946 rs201530765 |
313 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA74683702 rs938457848 |
314 | P>S | No |
ClinGen Ensembl |
|
CA353047331 rs1175221429 |
316 | D>G | No |
ClinGen TOPMed |
|
CA2426947 rs754198499 |
317 | R>* | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA353047335 rs754198499 |
317 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426948 rs368640893 |
317 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353047341 rs1189457117 |
318 | D>V | No |
ClinGen TOPMed |
|
CA2426949 rs765770991 |
319 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA353047355 rs1487531619 |
320 | Q>* | No |
ClinGen TOPMed |
|
CA2426950 rs753149799 |
320 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780707738 CA2426952 |
321 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1217477619 CA353047372 |
323 | K>E | No |
ClinGen TOPMed |
|
rs1470779320 CA353047401 |
327 | Q>* | No |
ClinGen gnomAD |
|
CA353047409 rs1177092600 |
328 | L>V | No |
ClinGen gnomAD |
|
CA2426954 rs562757156 |
329 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA353047420 rs1213463635 |
330 | D>G | No |
ClinGen TOPMed |
|
CA353047428 rs1164456330 |
331 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1164456330 CA353047429 |
331 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs1045321907 CA74683724 |
331 | S>P | No |
ClinGen gnomAD |
|
TCGA novel | 332 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1559748129 CA353047430 |
332 | G>R | No |
ClinGen Ensembl |
|
rs201870307 CA2426955 |
335 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA353047460 rs1330940981 |
336 | Y>* | No |
ClinGen gnomAD |
|
rs749094633 CA2426956 |
336 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA353047482 rs760877290 |
338 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760877290 CA2426962 |
338 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199581414 CA2426963 |
340 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1408197306 CA353048092 |
340 | Q>H | No |
ClinGen gnomAD |
|
rs1577659359 CA353048139 |
344 | E>* | No |
ClinGen Ensembl |
|
CA353048186 rs1421632188 |
347 | G>D | No |
ClinGen TOPMed |
|
rs1189745860 CA353048192 |
348 | S>G | No |
ClinGen TOPMed |
|
CA353048203 rs1577659370 |
348 | S>R | No |
ClinGen Ensembl |
|
rs761707566 CA2426964 |
349 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1335798903 CA353048216 |
349 | N>K | No |
ClinGen gnomAD |
|
CA353048239 rs1258342395 |
351 | R>K | No |
ClinGen gnomAD |
|
CA74683835 rs759386901 |
351 | R>W | No |
ClinGen Ensembl |
|
rs1577659392 CA353048252 |
352 | C>G | No |
ClinGen Ensembl |
|
CA353048248 rs1577659392 |
352 | C>S | No |
ClinGen Ensembl |
|
CA2426965 rs759879310 |
352 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA2426967 rs753203252 |
353 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765533970 CA2426966 |
353 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1442718289 CA353048306 |
357 | H>D | No |
ClinGen Ensembl |
|
rs764627892 CA2426969 COSM1663321 |
357 | H>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA353048325 rs1459426393 |
358 | I>T | No |
ClinGen TOPMed |
|
rs755676813 CA2426972 |
359 | W>* | No |
ClinGen ExAC gnomAD |
|
CA2426971 rs755676813 |
359 | W>C | No |
ClinGen ExAC gnomAD |
|
CA2426973 rs753433682 |
360 | K>E | No |
ClinGen ExAC gnomAD |
|
CA2426974 rs754741701 |
361 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2426975 rs778594031 |
362 | N>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 363 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2426976 rs748058853 |
363 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1242913307 CA353048420 |
364 | E>D | No |
ClinGen gnomAD |
|
CA353048416 rs1179854368 |
364 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs1168599112 CA353048440 |
366 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs772102477 CA2426977 |
366 | E>V | No |
ClinGen ExAC gnomAD |
|
CA353048499 rs1577659754 |
367 | E>K | No |
ClinGen Ensembl |
|
rs544556176 CA2426996 |
371 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs746957285 CA2426997 |
374 | S>A | No |
ClinGen ExAC |
|
rs770994413 CA2426998 |
375 | K>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 376 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs781165090 CA2427000 |
378 | N>S | No |
ClinGen ExAC gnomAD |
|
rs746004739 CA2427001 |
379 | R>G | No |
ClinGen ExAC gnomAD |
|
rs111921408 COSM1260940 CA2427003 |
379 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA2427002 rs746004739 |
379 | R>W | No |
ClinGen ExAC gnomAD |
|
CA74684163 rs1027753378 |
381 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA2427004 rs576950398 |
383 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs952223369 CA74684169 |
384 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs774778258 CA2427006 |
385 | G>D | No |
ClinGen ExAC gnomAD |
|
CA2427005 RCV000949691 rs76343500 |
385 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1577659844 CA353048738 |
386 | T>P | No |
ClinGen Ensembl |
|
rs370827208 CA2427007 |
388 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373811748 CA2427008 |
389 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353048811 rs1577659869 |
390 | V>G | No |
ClinGen Ensembl |
|
CA2427010 rs376472160 |
390 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs569487633 CA2427011 |
392 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2427012 rs569487633 |
392 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2427014 rs764003034 |
393 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751503675 CA2427015 |
394 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2427016 rs199520803 |
395 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 395 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 396 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs781243530 CA2427017 |
396 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1259916749 CA353048888 |
398 | G>W | No |
ClinGen TOPMed |
|
CA2427018 rs201317730 |
400 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1303676002 CA2427019 |
400 | R>H | No |
ClinGen TOPMed |
|
CA353048935 rs1481625477 |
401 | I>N | No |
ClinGen gnomAD |
|
CA2427021 rs199671052 |
401 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353048940 rs374472117 |
402 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374472117 CA2427022 |
402 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1249729572 CA353048967 |
403 | P>S | No |
ClinGen gnomAD |
|
CA353048975 rs1456321786 |
404 | H>N | No |
ClinGen gnomAD |
|
TCGA novel | 405 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA74684230 rs868804586 |
406 | G>S | No |
ClinGen Ensembl |
|
rs749523867 CA2427023 |
407 | G>W | No |
ClinGen ExAC gnomAD |
|
rs368862832 CA2427024 COSM1424319 |
408 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs774725267 CA2427025 |
408 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2427027 rs774725267 |
408 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774725267 CA2427026 |
408 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 409 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353049066 rs1422338506 |
409 | V>I | No |
ClinGen TOPMed |
|
rs371906755 CA2427029 |
412 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371906755 CA353049148 |
412 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1461989223 CA353049147 |
412 | G>S | No |
ClinGen gnomAD |
|
rs775235337 CA2427031 |
414 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA2427033 rs531222167 |
418 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs751381242 CA2427034 |
419 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1310765927 CA353049350 |
420 | S>N | No |
ClinGen gnomAD |
|
CA2427035 rs757135609 |
421 | K>R | No |
ClinGen ExAC gnomAD |
|
CA2427036 rs767354956 |
422 | S>L | No |
ClinGen ExAC gnomAD |
|
CA353049392 rs1228232535 |
422 | S>T | No |
ClinGen gnomAD |
|
rs187375113 CA74684289 |
424 | G>R | No |
ClinGen 1000Genomes |
|
rs1343349194 CA353049762 |
427 | I>T | No |
ClinGen TOPMed |
|
CA353049750 rs1429845114 |
427 | I>V | No |
ClinGen TOPMed |
|
rs750960039 CA353049773 |
428 | G>D | No |
ClinGen Ensembl |
|
CA74685079 rs750960039 |
428 | G>V | No |
ClinGen Ensembl |
|
CA2427055 CA353049802 rs368727238 |
429 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767354688 CA2427053 |
429 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2427054 rs767354688 |
429 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353049810 rs1430033459 |
430 | K>T | No |
ClinGen TOPMed |
|
CA353049826 rs1202311231 |
431 | C>F | No |
ClinGen TOPMed gnomAD |
|
CA353049820 rs1175830831 |
431 | C>R | No |
ClinGen TOPMed |
|
rs1202311231 CA353049825 |
431 | C>S | No |
ClinGen TOPMed gnomAD |
|
CA353049822 rs1202311231 |
431 | C>Y | No |
ClinGen TOPMed gnomAD |
|
rs766341004 CA2427056 |
432 | G>V | No |
ClinGen ExAC gnomAD |
|
CA353049858 rs1187468953 |
433 | A>D | No |
ClinGen TOPMed |
|
rs1559749010 CA353049855 |
433 | A>T | No |
ClinGen Ensembl |
|
CA353049872 rs1485779348 |
434 | H>R | No |
ClinGen TOPMed |
|
rs374483120 CA2427058 |
435 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1221157761 CA353049929 |
437 | G>A | No |
ClinGen TOPMed |
|
CA2427061 rs752978578 |
437 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74685086 rs1057400584 |
439 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs1295919099 CA353050031 |
443 | E>V | No |
ClinGen TOPMed |
|
TCGA novel | 449 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353050133 rs1406837294 |
450 | H>D | No |
ClinGen gnomAD |
|
CA353050140 rs1303628737 |
450 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs778232806 CA2427063 |
451 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199676447 CA2427064 |
454 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs199676447 CA2427065 |
454 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1336091151 CA353050197 |
456 | N>H | No |
ClinGen TOPMed |
|
TCGA novel | 458 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2427067 rs748807218 |
458 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1215450198 CA353050226 |
458 | S>T | No |
ClinGen gnomAD |
|
rs768290433 CA2427068 |
459 | L>* | No |
ClinGen ExAC gnomAD |
|
rs1171456408 CA353050259 |
461 | S>N | No |
ClinGen TOPMed |
|
rs773813635 CA2427069 |
461 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1428258902 CA353050267 |
462 | P>A | No |
ClinGen TOPMed |
|
rs369716461 CA2427070 |
462 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 462 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2427071 rs771721568 |
465 | G>S | No |
ClinGen ExAC gnomAD |
|
CA74685131 rs370384763 |
465 | G>V | No |
ClinGen Ensembl |
|
CA2427073 rs760510733 |
467 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2427074 rs760510733 |
467 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs532572190 CA2427075 |
468 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA74685156 rs1015387529 |
468 | S>N | No |
ClinGen TOPMed |
|
CA353050342 rs1426682896 |
469 | V>F | No |
ClinGen gnomAD |
|
rs373129708 CA2427076 |
470 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2427078 rs377219878 |
471 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2427079 rs201544821 |
472 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2427080 rs201544821 |
472 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2427081 rs200954849 |
472 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353050364 rs1381945841 |
473 | G>V | No |
ClinGen TOPMed |
|
CA2427082 rs376234079 |
476 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1246202610 CA353050388 |
477 | P>S | No |
ClinGen gnomAD |
|
CA2427099 rs751839575 |
479 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751839575 CA2427098 |
479 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2427101 rs750916489 |
480 | T>N | No |
ClinGen ExAC gnomAD |
|
CA2427102 rs78218556 |
481 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2427103 rs780471800 |
485 | L>V | No |
ClinGen ExAC gnomAD |
|
CA353050935 rs1577661823 |
486 | E>Q | No |
ClinGen Ensembl |
|
rs1424371805 CA353050975 |
488 | D>G | No |
ClinGen gnomAD |
|
rs757910277 CA2427105 |
492 | V>A | No |
ClinGen ExAC gnomAD |
|
rs747679406 CA2427104 |
492 | V>M | No |
ClinGen ExAC gnomAD |
|
rs374239491 CA2427107 COSM1650160 |
493 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM1424327 rs1333166723 CA353051067 |
495 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA353051065 rs1333166723 |
495 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA2427108 rs770674176 |
497 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353051091 rs770674176 |
497 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1432337372 CA353051104 |
498 | Q>R | No |
ClinGen gnomAD |
|
CA353051117 rs1270303859 |
499 | P>L | No |
ClinGen gnomAD |
|
CA2427109 rs201864296 |
501 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA353051152 rs1216265477 |
502 | C>Y | No |
ClinGen gnomAD |
|
rs1256644326 CA353051172 |
503 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1221792345 CA353051164 |
503 | P>S | No |
ClinGen Ensembl |
|
CA2427111 rs368229941 |
504 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA353051204 rs1278234582 |
506 | S>G | No |
ClinGen gnomAD |
|
CA74685566 rs992986134 |
509 | T>I | No |
ClinGen TOPMed |
|
CA2427114 rs371768759 |
510 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2427113 rs371768759 |
510 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 514 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762153689 CA2427116 |
514 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767887974 CA2427117 |
515 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353051337 rs1577661941 |
515 | Y>H | No |
ClinGen Ensembl |
|
rs767887974 CA353051340 |
515 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2427119 rs756490602 |
516 | L>F | No |
ClinGen ExAC gnomAD |
|
CA353051408 rs1451238748 |
520 | E>K | No |
ClinGen TOPMed |
|
CA2427121 rs766904544 |
524 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2427122 rs199619306 |
524 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201923901 CA2427124 |
526 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs746563726 CA2427125 |
526 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201923901 CA353051488 |
526 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1577661984 CA353051561 |
531 | V>G | No |
ClinGen Ensembl |
No associated diseases with Q9Y6F1
Functions
7 GO annotations of cellular component
Name | Definition |
---|---|
centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
intercellular bridge | A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised. |
nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
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. |
site of double-strand break | A region of a chromosome at which a DNA double-strand break 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. |
7 GO annotations of molecular function
Name | Definition |
---|---|
catalytic activity | Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. |
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-lysine ADP-ribosyltransferase activity | Catalysis of the reaction: L-lysyl- + NAD(+) = H(+) + N(6)-(ADP-D-ribosyl)-L-lysyl- |
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- |
14 GO annotations of biological process
Name | Definition |
---|---|
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. |
negative regulation of isotype switching | Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching. |
negative regulation of telomerase RNA reverse transcriptase activity | Any process that stops, prevents or reduces the frequency, rate or extent of telomerase RNA reverse transcriptase activity. |
positive regulation of DNA ligation | Any process that activates or increases the frequency, rate or extent of DNA ligation, the re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase. |
positive regulation of double-strand break repair via nonhomologous end joining | Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
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 localization to site of double-strand break | Any process in which a protein is transported to, or maintained at, a region of a chromosome at which a DNA double-strand break has occurred. |
protein mono-ADP-ribosylation | The transfer, from NAD, of a single (mono) ADP-ribose molecule to protein amino acids. |
protein poly-ADP-ribosylation | The transfer of multiple ADP-ribose residues from NAD to a protein amino acid, forming a poly(ADP-ribose) chain. |
regulation of mitotic spindle organization | Any process that modulates the rate, frequency or extent of the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
telomere maintenance | Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. |
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 |
P09874 | PARP1 | Poly [ADP-ribose] polymerase 1 | Homo sapiens (Human) | SS |
Q9UGN5 | PARP2 | Poly [ADP-ribose] polymerase 2 | Homo sapiens (Human) | EV |
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 |
MAPKPKPWVQ | TEGPEKKKGR | QAGREEDPFR | STAEALKAIP | AEKRIIRVDP | TCPLSSNPGT |
70 | 80 | 90 | 100 | 110 | 120 |
QVYEDYNCTL | NQTNIENNNN | KFYIIQLLQD | SNRFFTCWNR | WGRVGEVGQS | KINHFTRLED |
130 | 140 | 150 | 160 | 170 | 180 |
AKKDFEKKFR | EKTKNNWAER | DHFVSHPGKY | TLIEVQAEDE | AQEAVVKVDR | GPVRTVTKRV |
190 | 200 | 210 | 220 | 230 | 240 |
QPCSLDPATQ | KLITNIFSKE | MFKNTMALMD | LDVKKMPLGK | LSKQQIARGF | EALEALEEAL |
250 | 260 | 270 | 280 | 290 | 300 |
KGPTDGGQSL | EELSSHFYTV | IPHNFGHSQP | PPINSPELLQ | AKKDMLLVLA | DIELAQALQA |
310 | 320 | 330 | 340 | 350 | 360 |
VSEQEKTVEE | VPHPLDRDYQ | LLKCQLQLLD | SGAPEYKVIQ | TYLEQTGSNH | RCPTLQHIWK |
370 | 380 | 390 | 400 | 410 | 420 |
VNQEGEEDRF | QAHSKLGNRK | LLWHGTNMAV | VAAILTSGLR | IMPHSGGRVG | KGIYFASENS |
430 | 440 | 450 | 460 | 470 | 480 |
KSAGYVIGMK | CGAHHVGYMF | LGEVALGREH | HINTDNPSLK | SPPPGFDSVI | ARGHTEPDPT |
490 | 500 | 510 | 520 | 530 | |
QDTELELDGQ | QVVVPQGQPV | PCPEFSSSTF | SQSEYLIYQE | SQCRLRYLLE | VHL |