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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:BFAR-PARN (FusionGDB2 ID:HG51283TG5073)

Fusion Gene Summary for BFAR-PARN

check button Fusion gene summary
Fusion gene informationFusion gene name: BFAR-PARN
Fusion gene ID: hg51283tg5073
HgeneTgene
Gene symbol

BFAR

PARN

Gene ID

51283

5073

Gene namebifunctional apoptosis regulatorpoly(A)-specific ribonuclease
SynonymsBAR|RNF47DAN|DKCB6|PFBMFT4
Cytomap('BFAR')('PARN')

16p13.12

16p13.12

Type of geneprotein-codingprotein-coding
Descriptionbifunctional apoptosis regulatorRING finger protein 47bifunctional apoptosis inhibitorpoly(A)-specific ribonuclease PARNdeadenylating nucleasedeadenylation nucleasepolyadenylate-specific ribonuclease
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261658, ENST00000426842, 
ENST00000563971, ENST00000563082, 
Fusion gene scores* DoF score6 X 6 X 3=1089 X 8 X 4=288
# samples 79
** MAII scorelog2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BFAR [Title/Abstract] AND PARN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBFAR(14749067)-PARN(14698083), # samples:1
Anticipated loss of major functional domain due to fusion event.BFAR-PARN seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BFAR-PARN seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BFAR-PARN seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BFAR-PARN seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneBFAR

GO:0000209

protein polyubiquitination

21068390

HgeneBFAR

GO:0006511

ubiquitin-dependent protein catabolic process

21068390

HgeneBFAR

GO:0043066

negative regulation of apoptotic process

10716992

HgeneBFAR

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

21068390

HgeneBFAR

GO:0051865

protein autoubiquitination

21068390

HgeneBFAR

GO:0070534

protein K63-linked ubiquitination

21068390

HgeneBFAR

GO:0070936

protein K48-linked ubiquitination

21068390

TgenePARN

GO:0000495

box H/ACA snoRNA 3'-end processing

22442037

TgenePARN

GO:0010587

miRNA catabolic process

25049417

TgenePARN

GO:0071051

polyadenylation-dependent snoRNA 3'-end processing

22442037


check buttonFusion gene breakpoints across BFAR (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PARN (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-CG-5724-01ABFARchr16

14749067

+PARNchr16

14698083

-


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Fusion Gene ORF analysis for BFAR-PARN

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-intronENST00000261658ENST00000566021BFARchr16

14749067

+PARNchr16

14698083

-
5CDS-intronENST00000426842ENST00000566021BFARchr16

14749067

+PARNchr16

14698083

-
5CDS-intronENST00000563971ENST00000566021BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000261658ENST00000341484BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000261658ENST00000420015BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000261658ENST00000437198BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000261658ENST00000539279BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000426842ENST00000341484BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000426842ENST00000420015BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000426842ENST00000437198BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000426842ENST00000539279BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000563971ENST00000341484BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000563971ENST00000420015BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000563971ENST00000437198BFARchr16

14749067

+PARNchr16

14698083

-
In-frameENST00000563971ENST00000539279BFARchr16

14749067

+PARNchr16

14698083

-
intron-3CDSENST00000563082ENST00000341484BFARchr16

14749067

+PARNchr16

14698083

-
intron-3CDSENST00000563082ENST00000420015BFARchr16

14749067

+PARNchr16

14698083

-
intron-3CDSENST00000563082ENST00000437198BFARchr16

14749067

+PARNchr16

14698083

-
intron-3CDSENST00000563082ENST00000539279BFARchr16

14749067

+PARNchr16

14698083

-
intron-intronENST00000563082ENST00000566021BFARchr16

14749067

+PARNchr16

14698083

-

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 BFAR-PARN


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for BFAR-PARN


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/chr16:14749067/chr16:14698083)
- 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
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58182_249261451.0DomainSAM
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+581_140261451.0Topological domainCytoplasmic
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58141_161261451.0TransmembraneHelical
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+5834_74261451.0Zinc fingerRING-type
TgenePARNchr16:14749067chr16:14698083ENST00000341484924178_245173579.0DomainR3H

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58162_331261451.0Topological domainLumenal
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58353_360261451.0Topological domainCytoplasmic
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58382_404261451.0Topological domainLumenal
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58426_450261451.0Topological domainCytoplasmic
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58332_352261451.0TransmembraneHelical
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58361_381261451.0TransmembraneHelical
HgeneBFARchr16:14749067chr16:14698083ENST00000261658+58405_425261451.0TransmembraneHelical
TgenePARNchr16:14749067chr16:14698083ENST00000420015823178_245188594.0DomainR3H
TgenePARNchr16:14749067chr16:14698083ENST00000437198924178_245234640.0DomainR3H


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Fusion Gene Sequence for BFAR-PARN


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 BFAR-PARN


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 BFAR-PARN


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 BFAR-PARN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4225347PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 44CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4225356DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 63CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0265965Dyskeratosis Congenita2GENOMICS_ENGLAND;ORPHANET
TgeneC0085786Hamman-Rich syndrome1ORPHANET
TgeneC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
TgeneC1846142HOYERAAL-HREIDARSSON SYNDROME1ORPHANET
TgeneC4721508Hamman-Rich Disease1CTD_human
TgeneC4721509Usual Interstitial Pneumonia1CTD_human
TgeneC4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human