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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:HPN-ABCG1 (FusionGDB2 ID:37508)

Fusion Gene Summary for HPN-ABCG1

check button Fusion gene summary
Fusion gene informationFusion gene name: HPN-ABCG1
Fusion gene ID: 37508
HgeneTgene
Gene symbol

HPN

ABCG1

Gene ID

3249

9619

Gene namehepsinATP binding cassette subfamily G member 1
SynonymsTMPRSS1ABC8|WHITE1
Cytomap

19q13.11

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionserine protease hepsintesticular tissue protein Li 85transmembrane protease serine 1ATP-binding cassette sub-family G member 1ABC transporter 8ATP-binding cassette transporter 8ATP-binding cassette transporter member 1 of subfamily GATP-binding cassette, sub-family G (WHITE), member 1homolog of Drosophila whitewhite protein homolog
Modification date2020032220200329
UniProtAcc

P05981

P45844

Ensembl transtripts involved in fusion geneENST00000262626, ENST00000392226, 
ENST00000597419, ENST00000600675, 
ENST00000340588, ENST00000343687, 
ENST00000347800, ENST00000361802, 
ENST00000398437, ENST00000398449, 
ENST00000462050, ENST00000398457, 
Fusion gene scores* DoF score4 X 5 X 4=809 X 5 X 8=360
# samples 410
** MAII scorelog2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HPN [Title/Abstract] AND ABCG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHPN(35540420)-ABCG1(43704670), # samples:2
Anticipated loss of major functional domain due to fusion event.HPN-ABCG1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HPN-ABCG1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
HPN-ABCG1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneHPN

GO:0006508

proteolysis

16908524|19843851|19911255|24227843

HgeneHPN

GO:0010719

negative regulation of epithelial to mesenchymal transition

19843851

HgeneHPN

GO:0010756

positive regulation of plasminogen activation

16908524

HgeneHPN

GO:0034769

basement membrane disassembly

16908524

HgeneHPN

GO:0043066

negative regulation of apoptotic process

15614436

HgeneHPN

GO:0043923

positive regulation by host of viral transcription

15614436

HgeneHPN

GO:0050680

negative regulation of epithelial cell proliferation

19843851

HgeneHPN

GO:2000347

positive regulation of hepatocyte proliferation

15614436

TgeneABCG1

GO:0008203

cholesterol metabolic process

15994327

TgeneABCG1

GO:0033344

cholesterol efflux

15994327

TgeneABCG1

GO:0033993

response to lipid

16556852

TgeneABCG1

GO:0034436

glycoprotein transport

17293612

TgeneABCG1

GO:0042632

cholesterol homeostasis

15994327

TgeneABCG1

GO:0042987

amyloid precursor protein catabolic process

17293612

TgeneABCG1

GO:0050714

positive regulation of protein secretion

17293612

TgeneABCG1

GO:1902004

positive regulation of amyloid-beta formation

17293612


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

check buttonFusion gene breakpoints across ABCG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4OVTCGA-23-1032-01AHPNchr19

35540420

+ABCG1chr21

43704670

+


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Fusion Gene ORF analysis for HPN-ABCG1

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-3UTRENST00000262626ENST00000340588HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000262626ENST00000343687HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000262626ENST00000347800HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000262626ENST00000361802HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000262626ENST00000398437HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000262626ENST00000398449HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000262626ENST00000462050HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000392226ENST00000340588HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000392226ENST00000343687HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000392226ENST00000347800HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000392226ENST00000361802HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000392226ENST00000398437HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000392226ENST00000398449HPNchr19

35540420

+ABCG1chr21

43704670

+
5CDS-3UTRENST00000392226ENST00000462050HPNchr19

35540420

+ABCG1chr21

43704670

+
Frame-shiftENST00000262626ENST00000398457HPNchr19

35540420

+ABCG1chr21

43704670

+
Frame-shiftENST00000392226ENST00000398457HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3CDSENST00000597419ENST00000398457HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3CDSENST00000600675ENST00000398457HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000597419ENST00000340588HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000597419ENST00000343687HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000597419ENST00000347800HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000597419ENST00000361802HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000597419ENST00000398437HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000597419ENST00000398449HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000597419ENST00000462050HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000600675ENST00000340588HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000600675ENST00000343687HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000600675ENST00000347800HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000600675ENST00000361802HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000600675ENST00000398437HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000600675ENST00000398449HPNchr19

35540420

+ABCG1chr21

43704670

+
intron-3UTRENST00000600675ENST00000462050HPNchr19

35540420

+ABCG1chr21

43704670

+

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 HPN-ABCG1


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)
HPNchr1935540420+ABCG1chr2143704669+2.80E-060.99999714
HPNchr1935540420+ABCG1chr2143704669+2.80E-060.99999714

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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for HPN-ABCG1


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/:35540420/:43704670)
- 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
HPN

P05981

ABCG1

P45844

FUNCTION: Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed:21875933, PubMed:15839837). Plays a role in cell growth and maintenance of cell morphology (PubMed:8346233, PubMed:21875933). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization (PubMed:26673890). {ECO:0000269|PubMed:15839837, ECO:0000269|PubMed:21875933, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:26673890, ECO:0000269|PubMed:8346233}.FUNCTION: Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrlysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620). {ECO:0000269|PubMed:16702602, ECO:0000269|PubMed:17408620, ECO:0000269|PubMed:24576892}.

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 HPN-ABCG1


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 HPN-ABCG1


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 HPN-ABCG1


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 HPN-ABCG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource