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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for PARP2 |
Gene summary |
Gene information | Gene symbol | PARP2 | Gene ID | 10038 |
Gene name | poly(ADP-ribose) polymerase 2 | |
Synonyms | ADPRT2|ADPRTL2|ADPRTL3|ARTD2|PARP-2|pADPRT-2 | |
Cytomap | 14q11.2 | |
Type of gene | protein-coding | |
Description | poly [ADP-ribose] polymerase 2ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2ADP-ribosyltransferase diphtheria toxin-like 2ADPRT-2NAD(+) ADP-ribosyltransferase 2hPARP-2poly (ADP-ribose) polymerase family, member 2poly (ADP-ribosyl | |
Modification date | 20180523 | |
UniProtAcc | Q9UGN5 | |
Context | PubMed: PARP2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
PARP2 | GO:0018312 | peptidyl-serine ADP-ribosylation | 28190768 |
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Exon skipping events across known transcript of Ensembl for PARP2 from UCSC genome browser |
Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for PARP2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PARP2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_104973 | 14 | 20811795:20811846:20813090:20813246:20813552:20813623 | 20813090:20813246 | ENSG00000129484.9 | ENST00000529465.2 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENSG00000129484.9 | ENST00000250416.5,ENST00000527915.1 |
exon_skip_104978 | 14 | 20818684:20818781:20819205:20819281:20820403:20820506 | 20819205:20819281 | ENSG00000129484.9 | ENST00000250416.5,ENST00000527915.1,ENST00000429687.3 |
exon_skip_104980 | 14 | 20819205:20819281:20820403:20820506:20822243:20822267 | 20820403:20820506 | ENSG00000129484.9 | ENST00000250416.5,ENST00000528465.2,ENST00000527915.1,ENST00000429687.3 |
exon_skip_104983 | 14 | 20822243:20822406:20822967:20823106:20823910:20823974 | 20822967:20823106 | ENSG00000129484.9 | ENST00000250416.5,ENST00000527915.1,ENST00000429687.3 |
exon_skip_104986 | 14 | 20824465:20824593:20824748:20824848:20825209:20825308 | 20824748:20824848 | ENSG00000129484.9 | ENST00000250416.5,ENST00000539930.1,ENST00000530598.2,ENST00000527915.1,ENST00000429687.3 |
exon_skip_104987 | 14 | 20825209:20825308:20825554:20825679:20825796:20825935 | 20825554:20825679 | ENSG00000129484.9 | ENST00000250416.5,ENST00000429687.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PARP2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_104973 | 14 | 20811795:20811846:20813090:20813246:20813552:20813623 | 20813090:20813246 | ENSG00000129484.9 | ENST00000529465.2 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENSG00000129484.9 | ENST00000250416.5,ENST00000527915.1 |
exon_skip_104978 | 14 | 20818684:20818781:20819205:20819281:20820403:20820506 | 20819205:20819281 | ENSG00000129484.9 | ENST00000429687.3,ENST00000250416.5,ENST00000527915.1 |
exon_skip_104980 | 14 | 20819205:20819281:20820403:20820506:20822243:20822267 | 20820403:20820506 | ENSG00000129484.9 | ENST00000429687.3,ENST00000250416.5,ENST00000527915.1,ENST00000528465.2 |
exon_skip_104983 | 14 | 20822243:20822406:20822967:20823106:20823910:20823974 | 20822967:20823106 | ENSG00000129484.9 | ENST00000429687.3,ENST00000250416.5,ENST00000527915.1 |
exon_skip_104986 | 14 | 20824465:20824593:20824748:20824848:20825209:20825308 | 20824748:20824848 | ENSG00000129484.9 | ENST00000429687.3,ENST00000250416.5,ENST00000527915.1,ENST00000539930.1,ENST00000530598.2 |
exon_skip_104987 | 14 | 20825209:20825308:20825554:20825679:20825796:20825935 | 20825554:20825679 | ENSG00000129484.9 | ENST00000429687.3,ENST00000250416.5 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PARP2 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000250416 | 20819205 | 20819281 | Frame-shift |
ENST00000250416 | 20820403 | 20820506 | Frame-shift |
ENST00000250416 | 20822967 | 20823106 | Frame-shift |
ENST00000250416 | 20824748 | 20824848 | Frame-shift |
ENST00000250416 | 20825554 | 20825679 | Frame-shift |
ENST00000250416 | 20813090 | 20813285 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000250416 | 20819205 | 20819281 | Frame-shift |
ENST00000250416 | 20820403 | 20820506 | Frame-shift |
ENST00000250416 | 20822967 | 20823106 | Frame-shift |
ENST00000250416 | 20824748 | 20824848 | Frame-shift |
ENST00000250416 | 20825554 | 20825679 | Frame-shift |
ENST00000250416 | 20813090 | 20813285 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PARP2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000250416 | 1903 | 583 | 20813090 | 20813285 | 74 | 268 | 15 | 80 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000250416 | 1903 | 583 | 20813090 | 20813285 | 74 | 268 | 15 | 80 |
Lost protein functional features of individual exon skipping events in TCGA. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9UGN5 | 15 | 80 | 68 | 80 | Alternative sequence | ID=VSP_004537;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10364231;Dbxref=PMID:10364231 |
Q9UGN5 | 15 | 80 | 1 | 583 | Chain | ID=PRO_0000211327;Note=Poly [ADP-ribose] polymerase 2 |
Q9UGN5 | 15 | 80 | 1 | 88 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UGN5 | 15 | 80 | 37 | 37 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88554 |
Q9UGN5 | 15 | 80 | 38 | 38 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88554 |
Q9UGN5 | 15 | 80 | 35 | 40 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in GTEx. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9UGN5 | 15 | 80 | 68 | 80 | Alternative sequence | ID=VSP_004537;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10364231;Dbxref=PMID:10364231 |
Q9UGN5 | 15 | 80 | 1 | 583 | Chain | ID=PRO_0000211327;Note=Poly [ADP-ribose] polymerase 2 |
Q9UGN5 | 15 | 80 | 1 | 88 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9UGN5 | 15 | 80 | 37 | 37 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88554 |
Q9UGN5 | 15 | 80 | 38 | 38 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88554 |
Q9UGN5 | 15 | 80 | 35 | 40 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PARP2 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-DD-A3A0-01 | exon_skip_104973 | 20813091 | 20813246 | 20813095 | 20813095 | Frame_Shift_Del | A | - | p.L17fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_104974 | 20813091 | 20813285 | 20813095 | 20813095 | Frame_Shift_Del | A | - | p.L17fs |
LIHC | TCGA-BC-A112-01 | exon_skip_104973 | 20813091 | 20813246 | 20813185 | 20813186 | Frame_Shift_Ins | - | A | p.SK47fs |
LIHC | TCGA-BC-A112-01 | exon_skip_104974 | 20813091 | 20813285 | 20813185 | 20813186 | Frame_Shift_Ins | - | A | p.SK47fs |
STAD | TCGA-CG-5726-01 | exon_skip_104986 | 20824749 | 20824848 | 20824816 | 20824817 | Frame_Shift_Ins | - | C | p.A446fs |
STAD | TCGA-CG-5726-01 | exon_skip_104986 | 20824749 | 20824848 | 20824817 | 20824818 | Frame_Shift_Ins | - | C | p.A446fs |
SKCM | TCGA-ER-A19P-06 | exon_skip_104983 | 20822968 | 20823106 | 20823075 | 20823075 | Nonsense_Mutation | G | T | p.E304* |
BRCA | TCGA-BH-A18P-01 | exon_skip_104986 | 20824749 | 20824848 | 20824784 | 20824784 | Nonsense_Mutation | G | A | p.W435* |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
HEC108_ENDOMETRIUM | 20813091 | 20813246 | 20813202 | 20813202 | Missense_Mutation | C | T | p.A53V |
HEC108_ENDOMETRIUM | 20813091 | 20813285 | 20813202 | 20813202 | Missense_Mutation | C | T | p.A53V |
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20820404 | 20820506 | 20820490 | 20820490 | Missense_Mutation | A | G | p.Y208C |
JHH2_LIVER | 20822968 | 20823106 | 20823018 | 20823018 | Missense_Mutation | A | G | p.I285V |
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20822968 | 20823106 | 20823034 | 20823034 | Missense_Mutation | G | T | p.R290L |
HEC59_ENDOMETRIUM | 20822968 | 20823106 | 20823067 | 20823067 | Missense_Mutation | C | T | p.A301V |
HCT15_LARGE_INTESTINE | 20822968 | 20823106 | 20823096 | 20823096 | Missense_Mutation | C | T | p.H311Y |
HEC108_ENDOMETRIUM | 20825555 | 20825679 | 20825646 | 20825646 | Missense_Mutation | A | G | p.K520R |
HCC2998_LARGE_INTESTINE | 20824749 | 20824848 | 20824810 | 20824810 | Nonsense_Mutation | C | T | p.R444* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PARP2 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
exon_skip_104983 | 14 | 20822243:20822406:20822967:20823106:20823910:20823974 | 20822967:20823106 | ENST00000250416.5,ENST00000527915.1,ENST00000429687.3 | LUAD | rs3093926 | chr14:20823052 | G/A | 1.34e-07 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | CESC | rs2297616 | chr14:20813289 | G/A | 8.48e-53 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | CESC | rs2297616 | chr14:20813289 | G/A | 4.67e-04 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | BLCA | rs2297616 | chr14:20813289 | G/A | 5.24e-67 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | BLCA | rs2297616 | chr14:20813289 | G/A | 7.60e-04 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | ESCA | rs2297616 | chr14:20813289 | G/A | 6.18e-42 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | HNSC | rs2297616 | chr14:20813289 | G/A | 2.92e-107 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | BRCA | rs2297616 | chr14:20813289 | G/A | 5.03e-252 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | BRCA | rs2297616 | chr14:20813289 | G/A | 7.17e-10 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | KICH | rs2297616 | chr14:20813289 | G/A | 9.84e-15 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | KIRP | rs2297616 | chr14:20813289 | G/A | 1.88e-25 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | LGG | rs2297616 | chr14:20813289 | G/A | 1.45e-117 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | LGG | rs2297616 | chr14:20813289 | G/A | 1.99e-07 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | KIRC | rs2297616 | chr14:20813289 | G/A | 1.65e-88 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | KIRC | rs2297616 | chr14:20813289 | G/A | 3.05e-03 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | LUAD | rs2297616 | chr14:20813289 | G/A | 6.31e-127 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | LUAD | rs2297616 | chr14:20813289 | G/A | 3.62e-04 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | LUAD | rs2297616 | chr14:20813289 | G/A | 1.18e-03 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | MESO | rs2297616 | chr14:20813289 | G/A | 7.60e-14 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | LUSC | rs2297616 | chr14:20813289 | G/A | 2.51e-128 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | LUSC | rs2297616 | chr14:20813289 | G/A | 1.78e-04 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | OV | rs2297616 | chr14:20813289 | G/A | 5.32e-71 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | READ | rs2297616 | chr14:20813289 | G/A | 1.53e-22 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | PCPG | rs2297616 | chr14:20813289 | G/A | 1.31e-41 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | PAAD | rs2297616 | chr14:20813289 | G/A | 2.44e-46 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | PRAD | rs2297616 | chr14:20813289 | G/A | 4.49e-100 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | SARC | rs2297616 | chr14:20813289 | G/A | 7.55e-43 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | THYM | rs2297616 | chr14:20813289 | G/A | 2.26e-15 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | TGCT | rs2297616 | chr14:20813289 | G/A | 1.15e-27 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | SKCM | rs2297616 | chr14:20813289 | G/A | 7.40e-17 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | STAD | rs2297616 | chr14:20813289 | G/A | 8.51e-122 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | THCA | rs2297616 | chr14:20813289 | G/A | 3.20e-132 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | THCA | rs2297616 | chr14:20813289 | G/A | 4.16e-05 |
exon_skip_104974 | 14 | 20811795:20811846:20813090:20813285:20813552:20813623 | 20813090:20813285 | ENST00000250416.5,ENST00000527915.1 | UVM | rs2297616 | chr14:20813289 | G/A | 1.60e-15 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARP2 |
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RelatedDrugs for PARP2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q9UGN5 | DB09074 | Olaparib | Poly [ADP-ribose] polymerase 2 | small molecule | approved | |
Q9UGN5 | DB11760 | Talazoparib | Poly [ADP-ribose] polymerase 2 | small molecule | approved|investigational | |
Q9UGN5 | DB11793 | Niraparib | Poly [ADP-ribose] polymerase 2 | small molecule | approved|investigational | |
Q9UGN5 | DB12332 | Rucaparib | Poly [ADP-ribose] polymerase 2 | small molecule | approved|investigational |
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RelatedDiseases for PARP2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PARP2 | C0023787 | Lipodystrophy | 1 | CTD_human |