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Fusion gene ID: 20519 |
FusionGeneSummary for MACROD1_PARP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MACROD1_PARP1 | Fusion gene ID: 20519 | Hgene | Tgene | Gene symbol | MACROD1 | PARP1 | Gene ID | 28992 | 142 |
Gene name | MACRO domain containing 1 | poly(ADP-ribose) polymerase 1 | |
Synonyms | LRP16 | ADPRT|ADPRT 1|ADPRT1|ARTD1|PARP|PARP-1|PPOL|pADPRT-1 | |
Cytomap | 11q13.1 | 1q42.12 | |
Type of gene | protein-coding | protein-coding | |
Description | O-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolase | poly [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 date | 20180519 | 20180522 | |
UniProtAcc | Q9BQ69 | P09874 | |
Ensembl transtripts involved in fusion gene | ENST00000255681, ENST00000538595, | ENST00000366794, ENST00000490921, ENST00000366792, ENST00000366791, ENST00000366790, | |
Fusion gene scores | * DoF score | 11 X 2 X 11=242 | 7 X 5 X 5=175 |
# samples | 13 | 7 | |
** MAII score | log2(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 annotation | DDR (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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MACROD1 | GO:0042278 | purine nucleoside metabolic process | 21257746 |
Hgene | MACROD1 | GO:0051725 | protein de-ADP-ribosylation | 23474712 |
Tgene | PARP1 | GO:0006471 | protein ADP-ribosylation | 17396150|27067600 |
Tgene | PARP1 | GO:0006915 | apoptotic process | 15565177 |
Tgene | PARP1 | GO:0018312 | peptidyl-serine ADP-ribosylation | 28190768 |
Tgene | PARP1 | GO:0032869 | cellular response to insulin stimulus | 19303849 |
Tgene | PARP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11112786 |
Tgene | PARP1 | GO:0050790 | regulation of catalytic activity | 25749521 |
Tgene | PARP1 | GO:0070212 | protein poly-ADP-ribosylation | 15674325|19470756 |
Tgene | PARP1 | GO:1990966 | ATP generation from poly-ADP-D-ribose | 27257257 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | UVM | TCGA-VD-A8KO-01A | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000255681 | ENST00000366794 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5CDS-intron | ENST00000255681 | ENST00000490921 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5CDS-intron | ENST00000255681 | ENST00000366792 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5CDS-intron | ENST00000255681 | ENST00000366791 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5CDS-intron | ENST00000255681 | ENST00000366790 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5UTR-3CDS | ENST00000538595 | ENST00000366794 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5UTR-intron | ENST00000538595 | ENST00000490921 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5UTR-intron | ENST00000538595 | ENST00000366792 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5UTR-intron | ENST00000538595 | ENST00000366791 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
5UTR-intron | ENST00000538595 | ENST00000366790 | MACROD1 | chr11 | 63918711 | - | PARP1 | chr1 | 226590080 | - |
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FusionProtFeatures for MACROD1_PARP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MACROD1 | PARP1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MACROD1_PARP1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MACROD1 | BAG3, 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, DLD | PARP1 | APTX, 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 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MACROD1_PARP1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | PARP1 | P09874 | DB00277 | Theophylline | Poly [ADP-ribose] polymerase 1 | small molecule | approved |
Tgene | PARP1 | P09874 | DB09074 | Olaparib | Poly [ADP-ribose] polymerase 1 | small molecule | approved |
Tgene | PARP1 | P09874 | DB01593 | Zinc | Poly [ADP-ribose] polymerase 1 | small molecule | approved|investigational |
Tgene | PARP1 | P09874 | DB02701 | Nicotinamide | Poly [ADP-ribose] polymerase 1 | small molecule | approved|investigational |
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RelatedDiseases for MACROD1_PARP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PARP1 | C0022658 | Kidney Diseases | 2 | CTD_human |
Tgene | PARP1 | C0002170 | Alopecia | 1 | CTD_human |
Tgene | PARP1 | C0002871 | Anemia | 1 | CTD_human |
Tgene | PARP1 | C0004096 | Asthma | 1 | CTD_human |
Tgene | PARP1 | C0004153 | Atherosclerosis | 1 | CTD_human |
Tgene | PARP1 | C0007786 | Brain Ischemia | 1 | CTD_human |
Tgene | PARP1 | C0011603 | Dermatitis | 1 | CTD_human |
Tgene | PARP1 | C0019158 | Hepatitis | 1 | CTD_human |
Tgene | PARP1 | C0021368 | Inflammation | 1 | CTD_human |
Tgene | PARP1 | C0022821 | Kyphosis deformity of spine | 1 | CTD_human |
Tgene | PARP1 | C0026764 | Multiple Myeloma | 1 | CTD_human |
Tgene | PARP1 | C0028754 | Obesity | 1 | CTD_human |
Tgene | PARP1 | C0032285 | Pneumonia | 1 | CTD_human |
Tgene | PARP1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | PARP1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
Tgene | PARP1 | C0042842 | Vitamin A Deficiency | 1 | CTD_human |
Tgene | PARP1 | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
Tgene | PARP1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Tgene | PARP1 | C0878544 | Cardiomyopathies | 1 | CTD_human |
Tgene | PARP1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | PARP1 | C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 1 | CTD_human |
Tgene | PARP1 | C2936350 | Plaque, Atherosclerotic | 1 | CTD_human |
Tgene | PARP1 | C3714756 | Intellectual Disability | 1 | CTD_human |