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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACBD3-PARP1 (FusionGDB2 ID:HG64746TG142)

Fusion Gene Summary for ACBD3-PARP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACBD3-PARP1
Fusion gene ID: hg64746tg142
HgeneTgene
Gene symbol

ACBD3

PARP1

Gene ID

64746

142

Gene nameacyl-CoA binding domain containing 3poly(ADP-ribose) polymerase 1
SynonymsGCP60|GOCAP1|GOLPH1|PAP7ADPRT|ADPRT 1|ADPRT1|ARTD1|PARP|PARP-1|PPOL|pADPRT-1
Cytomap('ACBD3')('PARP1')

1q42.12

1q42.12

Type of geneprotein-codingprotein-coding
DescriptionGolgi resident protein GCP60PBR- and PKA-associated protein 7PKA (RIalpha)-associated proteinacyl-Coenzyme A binding domain containing 3golgi complex associated protein 1, 60kDagolgi phosphoprotein 1peripheral benzodiazepine receptor-associated protpoly [ADP-ribose] polymerase 1ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)ADP-ribosyltransferase NAD(+)ADP-ribosyltransferase diphtheria toxin-like 1DNA ADP-ribosyltransferase PARP1NAD(+) ADP-ribosyltransferase 1poly (ADP-ribose) poly
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000366812, ENST00000464927, 
Fusion gene scores* DoF score6 X 5 X 4=12012 X 10 X 9=1080
# samples 612
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/1080*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACBD3 [Title/Abstract] AND PARP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACBD3(226374090)-PARP1(226580015), # samples:1
Anticipated loss of major functional domain due to fusion event.ACBD3-PARP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ACBD3-PARP1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ACBD3-PARP1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACBD3-PARP1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
TgenePARP1

GO:0006471

protein ADP-ribosylation

7852410|17396150|26344098|27067600

TgenePARP1

GO:0006915

apoptotic process

15565177

TgenePARP1

GO:0018312

peptidyl-serine ADP-ribosylation

28190768

TgenePARP1

GO:0018424

peptidyl-glutamic acid poly-ADP-ribosylation

19764761

TgenePARP1

GO:0030592

DNA ADP-ribosylation

27471034

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|25043379

TgenePARP1

GO:0070213

protein auto-ADP-ribosylation

19764761

TgenePARP1

GO:1905168

positive regulation of double-strand break repair via homologous recombination

26344098|30356214

TgenePARP1

GO:1990966

ATP generation from poly-ADP-D-ribose

27257257



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A8-A095ACBD3chr1

226374090

-PARP1chr1

226580015

-


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Fusion Gene ORF analysis for ACBD3-PARP1

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
5CDS-3UTRENST00000366812ENST00000366792ACBD3chr1

226374090

-PARP1chr1

226580015

-
5CDS-intronENST00000366812ENST00000366790ACBD3chr1

226374090

-PARP1chr1

226580015

-
5CDS-intronENST00000366812ENST00000366791ACBD3chr1

226374090

-PARP1chr1

226580015

-
5CDS-intronENST00000366812ENST00000490921ACBD3chr1

226374090

-PARP1chr1

226580015

-
Frame-shiftENST00000366812ENST00000366794ACBD3chr1

226374090

-PARP1chr1

226580015

-
intron-3CDSENST00000464927ENST00000366794ACBD3chr1

226374090

-PARP1chr1

226580015

-
intron-3UTRENST00000464927ENST00000366792ACBD3chr1

226374090

-PARP1chr1

226580015

-
intron-intronENST00000464927ENST00000366790ACBD3chr1

226374090

-PARP1chr1

226580015

-
intron-intronENST00000464927ENST00000366791ACBD3chr1

226374090

-PARP1chr1

226580015

-
intron-intronENST00000464927ENST00000490921ACBD3chr1

226374090

-PARP1chr1

226580015

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ACBD3-PARP1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for ACBD3-PARP1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:226374090/:226580015)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for ACBD3-PARP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ACBD3-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


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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Related Drugs for ACBD3-PARP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ACBD3-PARP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0022658Kidney Diseases2CTD_human
TgeneC0002170Alopecia1CTD_human
TgeneC0002871Anemia1CTD_human
TgeneC0004096Asthma1CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0011603Dermatitis1CTD_human
TgeneC0014518Toxic Epidermal Necrolysis1CTD_human
TgeneC0015697Arterial Fatty Streak1CTD_human
TgeneC0019158Hepatitis1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022821Kyphosis deformity of spine1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0026764Multiple Myeloma1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0032285Pneumonia1CTD_human
TgeneC0032300Lobar Pneumonia1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0038325Stevens-Johnson Syndrome1CTD_human
TgeneC0042842Vitamin A Deficiency1CTD_human
TgeneC0086873Pseudopelade1CTD_human
TgeneC0162311Androgenetic Alopecia1CTD_human
TgeneC0242422Parkinsonian Disorders1CTD_human
TgeneC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
TgeneC0263477Female pattern alopecia (disorder)1CTD_human
TgeneC0264956Atheroma1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
TgeneC0752098Autosomal Dominant Parkinsonism1CTD_human
TgeneC0752100Autosomal Recessive Parkinsonism1CTD_human
TgeneC0752101Parkinsonism, Experimental1CTD_human
TgeneC0752104Familial Juvenile Parkinsonism1CTD_human
TgeneC0752105Parkinsonism, Juvenile1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC0887898Experimental Lung Inflammation1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0917816Mental deficiency1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1563937Atherogenesis1CTD_human
TgeneC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgeneC2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgeneC2936350Plaque, Atherosclerotic1CTD_human
TgeneC2936351Fibroatheroma1CTD_human
TgeneC3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgeneC3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
TgeneC3714636Pneumonitis1CTD_human
TgeneC3714756Intellectual Disability1CTD_human
TgeneC4083212Alopecia, Male Pattern1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human