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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20519

FusionGeneSummary for MACROD1_PARP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MACROD1_PARP1
Fusion gene ID: 20519
HgeneTgene
Gene symbol

MACROD1

PARP1

Gene ID

28992

142

Gene nameMACRO domain containing 1poly(ADP-ribose) polymerase 1
SynonymsLRP16ADPRT|ADPRT 1|ADPRT1|ARTD1|PARP|PARP-1|PPOL|pADPRT-1
Cytomap

11q13.1

1q42.12

Type of geneprotein-codingprotein-coding
DescriptionO-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolasepoly [ADP-ribose] polymerase 1ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)ADP-ribosyltransferase NAD(+)ADP-ribosyltransferase diphtheria toxin-like 1NAD(+) ADP-ribosyltransferase 1poly (ADP-ribose) polymerase family, member 1poly(ADP-
Modification date2018051920180522
UniProtAcc

Q9BQ69

P09874

Ensembl transtripts involved in fusion geneENST00000255681, ENST00000538595, 
ENST00000366794, ENST00000490921, 
ENST00000366792, ENST00000366791, 
ENST00000366790, 
Fusion gene scores* DoF score11 X 2 X 11=2427 X 5 X 5=175
# samples 137
** MAII scorelog2(13/242*10)=-0.89649542424614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MACROD1 [Title/Abstract] AND PARP1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMACROD1

GO:0042278

purine nucleoside metabolic process

21257746

HgeneMACROD1

GO:0051725

protein de-ADP-ribosylation

23474712

TgenePARP1

GO:0006471

protein ADP-ribosylation

17396150|27067600

TgenePARP1

GO:0006915

apoptotic process

15565177

TgenePARP1

GO:0018312

peptidyl-serine ADP-ribosylation

28190768

TgenePARP1

GO:0032869

cellular response to insulin stimulus

19303849

TgenePARP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11112786

TgenePARP1

GO:0050790

regulation of catalytic activity

25749521

TgenePARP1

GO:0070212

protein poly-ADP-ribosylation

15674325|19470756

TgenePARP1

GO:1990966

ATP generation from poly-ADP-D-ribose

27257257


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVUVMTCGA-VD-A8KO-01AMACROD1chr11

63918711

-PARP1chr1

226590080

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000255681ENST00000366794MACROD1chr11

63918711

-PARP1chr1

226590080

-
5CDS-intronENST00000255681ENST00000490921MACROD1chr11

63918711

-PARP1chr1

226590080

-
5CDS-intronENST00000255681ENST00000366792MACROD1chr11

63918711

-PARP1chr1

226590080

-
5CDS-intronENST00000255681ENST00000366791MACROD1chr11

63918711

-PARP1chr1

226590080

-
5CDS-intronENST00000255681ENST00000366790MACROD1chr11

63918711

-PARP1chr1

226590080

-
5UTR-3CDSENST00000538595ENST00000366794MACROD1chr11

63918711

-PARP1chr1

226590080

-
5UTR-intronENST00000538595ENST00000490921MACROD1chr11

63918711

-PARP1chr1

226590080

-
5UTR-intronENST00000538595ENST00000366792MACROD1chr11

63918711

-PARP1chr1

226590080

-
5UTR-intronENST00000538595ENST00000366791MACROD1chr11

63918711

-PARP1chr1

226590080

-
5UTR-intronENST00000538595ENST00000366790MACROD1chr11

63918711

-PARP1chr1

226590080

-

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FusionProtFeatures for MACROD1_PARP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MACROD1

Q9BQ69

PARP1

P09874

Removes ADP-ribose from glutamate residues in proteinsbearing a single ADP-ribose moiety. Inactive towards proteinsbearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, asignaling molecule generated by the deacetylation of acetylatedlysine residues in histones and other proteins. Plays a role inestrogen signaling. Binds to androgen receptor (AR) and amplifiesthe transactivation function of AR in response to androgen. Mayplay an important role in carcinogenesis and/or progression ofhormone-dependent cancers by feed-forward mechanism that activatesESR1 transactivation. Could be an ESR1 coactivator, providing apositive feedback regulatory loop for ESR1 signal transduction.Could be involved in invasive growth by down-regulating CDH1 inendometrial cancer cells. Enhances ESR1-mediated transcriptionactivity. {ECO:0000269|PubMed:17893710,ECO:0000269|PubMed:17914104, ECO:0000269|PubMed:19022849,ECO:0000269|PubMed:19403568, ECO:0000269|PubMed:21257746,ECO:0000269|PubMed:23474712}. Involved in the base excision repair (BER) pathway, bycatalyzing the poly(ADP-ribosyl)ation of a limited number ofacceptor proteins involved in chromatin architecture and in DNAmetabolism. This modification follows DNA damages and appears asan obligatory step in a detection/signaling pathway leading to thereparation of DNA strand breaks (PubMed:17177976, PubMed:18172500,PubMed:19344625, PubMed:19661379, PubMed:23230272). Mediates thepoly(ADP-ribosyl)ation of APLF and CHFR (PubMed:17396150).Positively regulates the transcription of MTUS1 and negativelyregulates the transcription of MTUS2/TIP150. With EEF1A1 and TXK,forms a complex that acts as a T-helper 1 (Th1) cell-specifictranscription factor and binds the promoter of IFN-gamma todirectly regulate its transcription, and is thus involvedimportantly in Th1 cytokine production (PubMed:17177976). Requiredfor PARP9 and DTX3L recruitment to DNA damage sites(PubMed:23230272). PARP1-dependent PARP9-DTX3L-mediatedubiquitination promotes the rapid and specific recruitment of53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites(PubMed:23230272). Mediates serine ADP-ribosylation of targetproteins following interaction with HPF1; HPF1 conferring serinespecificity (PubMed:28190768). Mediates the poly(ADP-ribosyl)ationof histones in a HPF1-dependent manner (PubMed:27067600). Involvedin the synthesis of ATP in the nucleus, together with NMNAT1, PARGand NUDT5 (PubMed:27257257). Nuclear ATP generation is requiredfor extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). {ECO:0000269|PubMed:17177976,ECO:0000269|PubMed:17396150, ECO:0000269|PubMed:18172500,ECO:0000269|PubMed:19344625, ECO:0000269|PubMed:19661379,ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:27067600,ECO:0000269|PubMed:27257257, ECO:0000269|PubMed:28190768}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MACROD1_PARP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MACROD1_PARP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MACROD1BAG3, PARP1, IKBKG, XRCC6, XRCC5, IKBKB, ERC1, EIF2AK2, HNRNPU, CSTF3, YBX1, DHX9, DDX21, PPP2R1A, PTP4A1, H2AFX, PARP2, SUPT16H, HIST2H3PS2, XPC, SSRP1, HBA2, EXOC3, CETN2, LIG3, HBE1, RPA1, PTPN6, PTPN7, DLDPARP1APTX, TERF2IP, TP53, XRCC1, ZNF423, PCNA, CDKN1A, PARP3, RBM14, CENPA, CENPB, BUB3, TAL1, SWAP70, NCOA6, RELA, POLA1, POLA2, MYBL2, PARP2, RPS3A, BCL2, PTK2, RRP1B, H2AFY, USP36, MEPCE, TAF13, TCEA2, AIRE, GBAS, PRKAA1, FOXO1, NRF1, HIST1H1A, PIAS4, IMMT, BANF1, CHD1L, SENP1, SENP3, EP300, HSPA2, LZTR1, TRIM29, ZBTB9, MYB, SMARCA1, ESR1, TOP2B, PRKDC, XRCC5, XRCC6, SUPT16H, TRIM28, NCAPD2, NCAPG, H2AFX, BUB1B, CREBBP, GTF2F1, MED1, MED14, MED23, MED24, MED17, MED7, CDK8, THRAP3, MED6, HMGA1, NFKB1, PARP1, HDAC1, HDAC2, HDAC3, RARA, THRA, HIF1A, CARM1, PRMT1, HIST1H1C, NFATC1, SP1, ATM, H3F3A, TOPORS, THRB, BMI1, HDAC9, POLB, HIST2H2AA3, HIST1H2BA, HIST1H4C, HIST1H3E, CTCF, RYK, KLF8, USF1, HDAC5, APLF, TOP1, LIG3, HOXB7, VHL, RNF146, SMARCAD1, SREK1, TCF7L2, NPM1, HDGF, HES1, WRN, CEBPA, ELAVL1, CHFR, ERG, CDK2, COPS5, CAND1, UBE2I, ZBTB16, DDX21, PGR, CASP1, NOTCH1, FMNL1, CTSB, CTSG, PNKP, GZMM, FN1, VCAM1, ITGA4, CBX2, CBX4, CTNNB1, CASP3, CASP7, E2F1, PAN2, ERCC6, LMNA, BAG3, CD86, BLM, RPL19, SPP1, MAFG, MAFK, MAFF, ABL1, CETN2, RPL35, CETN1, RPL27A, PHB, RPL14, RPS8, TUBB, ATP5A1, DDX39A, TUBB1, POLG2, PDLIM7, RAD23A, HNRNPH1, NQO1, RPA1, RPA2, RPA3, UHRF1, RIOK2, PARP9, DDB2, IVNS1ABP, DNMT1, HUWE1, BANP, SHMT2, MOV10, NXF1, KAT2B, HIST1H4A, SIRT1, JUN, CUL7, OBSL1, CCDC8, CASP8, MAST3, WDR76, RPA4, RNF166, LGALS3, NTRK1, SCARNA22, KLF5, TCF3, POU2F1, BLID, IL24, MTA3, RASL10B, THRSP, EWSR1, DAXX, RPL10, EXOSC1, UIMC1, BRCA1, FAM175A, BARD1, MACROD1, IKBKG, NF2, CDC5L, UHRF2, DTX3L, RC3H1, NFATC2, C4orf27, HIST1H1B, HIST3H3, HMGB1, HMGN1, HMGN2, HMGN4, HIST1H3A, HIST1H2BC, H1F0, EGFR, HIPK2, HSPA1A, STUB1, CHD4, RRM2, CHEK1, DERL1, ZNF746, PPM1G, XPC, SNRNP27, SSRP1, NR3C1, BRCA2, FEN1, FANCD2, CYLD, ECD, YAP1, MTF1, AIMP2, TXNIP


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MACROD1_PARP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePARP1P09874DB00277TheophyllinePoly [ADP-ribose] polymerase 1small moleculeapproved
TgenePARP1P09874DB09074OlaparibPoly [ADP-ribose] polymerase 1small moleculeapproved
TgenePARP1P09874DB01593ZincPoly [ADP-ribose] polymerase 1small moleculeapproved|investigational
TgenePARP1P09874DB02701NicotinamidePoly [ADP-ribose] polymerase 1small moleculeapproved|investigational

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RelatedDiseases for MACROD1_PARP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePARP1C0022658Kidney Diseases2CTD_human
TgenePARP1C0002170Alopecia1CTD_human
TgenePARP1C0002871Anemia1CTD_human
TgenePARP1C0004096Asthma1CTD_human
TgenePARP1C0004153Atherosclerosis1CTD_human
TgenePARP1C0007786Brain Ischemia1CTD_human
TgenePARP1C0011603Dermatitis1CTD_human
TgenePARP1C0019158Hepatitis1CTD_human
TgenePARP1C0021368Inflammation1CTD_human
TgenePARP1C0022821Kyphosis deformity of spine1CTD_human
TgenePARP1C0026764Multiple Myeloma1CTD_human
TgenePARP1C0028754Obesity1CTD_human
TgenePARP1C0032285Pneumonia1CTD_human
TgenePARP1C0033578Prostatic Neoplasms1CTD_human
TgenePARP1C0038325Stevens-Johnson Syndrome1CTD_human
TgenePARP1C0042842Vitamin A Deficiency1CTD_human
TgenePARP1C0242422Parkinsonian Disorders1CTD_human
TgenePARP1C0345967Malignant mesothelioma1CTD_human
TgenePARP1C0878544Cardiomyopathies1CTD_human
TgenePARP1C1458155Mammary Neoplasms1CTD_human
TgenePARP1C2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgenePARP1C2936350Plaque, Atherosclerotic1CTD_human
TgenePARP1C3714756Intellectual Disability1CTD_human