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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:ADAM9-ATP6V1H (FusionGDB2 ID:2009)

Fusion Gene Summary for ADAM9-ATP6V1H

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAM9-ATP6V1H
Fusion gene ID: 2009
HgeneTgene
Gene symbol

ADAM9

ATP6V1H

Gene ID

8754

51606

Gene nameADAM metallopeptidase domain 9ATPase H+ transporting V1 subunit H
SynonymsCORD9|MCMP|MDC9|MltngCGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13
Cytomap

8p11.22

8q11.23

Type of geneprotein-codingprotein-coding
Descriptiondisintegrin and metalloproteinase domain-containing protein 9ADAM metallopeptidase domain 9 (meltrin gamma)cellular disintegrin-related proteincone rod dystrophy 9metalloprotease/disintegrin/cysteine-rich protein 9myeloma cell metalloproteinaseV-type proton ATPase subunit HATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit HV-ATPase 50/57 kDa subunitsV-ATPase subunit Hnef-binding protein 1protein VMA13 homologvacuolar ATP synthase subunit Hvacuolar ATPase subunit Hvacuolar proton p
Modification date2020031320200313
UniProtAcc

Q13443

Q9UI12

Ensembl transtripts involved in fusion geneENST00000466936, ENST00000481513, 
ENST00000487273, ENST00000484143, 
ENST00000355221, ENST00000359530, 
ENST00000396774, ENST00000520188, 
ENST00000523899, 
Fusion gene scores* DoF score27 X 19 X 12=61568 X 9 X 6=432
# samples 318
** MAII scorelog2(31/6156*10)=-4.31165311105397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/432*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADAM9 [Title/Abstract] AND ATP6V1H [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADAM9(38854678)-ATP6V1H(54742443), # samples:1
ADAM9(38862833)-ATP6V1H(54742003), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneADAM9

GO:0000186

activation of MAPKK activity

17704059

HgeneADAM9

GO:0006509

membrane protein ectodomain proteolysis

9920899

HgeneADAM9

GO:0034612

response to tumor necrosis factor

11831872

HgeneADAM9

GO:0050714

positive regulation of protein secretion

17704059

TgeneATP6V1H

GO:0006897

endocytosis

12032142


check buttonFusion gene breakpoints across ADAM9 (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 ATP6V1H (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
ChimerDB4PRADTCGA-EJ-5510-01AADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
ChimerDB4PRADTCGA-EJ-5510-01AADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+


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Fusion Gene ORF analysis for ADAM9-ATP6V1H

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-intronENST00000466936ENST00000355221ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000466936ENST00000359530ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000466936ENST00000396774ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000466936ENST00000520188ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000466936ENST00000523899ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000481513ENST00000355221ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000481513ENST00000359530ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000481513ENST00000396774ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000481513ENST00000520188ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000481513ENST00000523899ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000487273ENST00000355221ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000487273ENST00000359530ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000487273ENST00000396774ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000487273ENST00000520188ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
5CDS-intronENST00000487273ENST00000523899ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
intron-intronENST00000466936ENST00000355221ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000466936ENST00000359530ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000466936ENST00000396774ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000466936ENST00000520188ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000466936ENST00000523899ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000481513ENST00000355221ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000481513ENST00000359530ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000481513ENST00000396774ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000481513ENST00000520188ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000481513ENST00000523899ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000484143ENST00000355221ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
intron-intronENST00000484143ENST00000355221ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000484143ENST00000359530ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
intron-intronENST00000484143ENST00000359530ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000484143ENST00000396774ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
intron-intronENST00000484143ENST00000396774ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000484143ENST00000520188ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
intron-intronENST00000484143ENST00000520188ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000484143ENST00000523899ADAM9chr8

38854678

+ATP6V1Hchr8

54742443

+
intron-intronENST00000484143ENST00000523899ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000487273ENST00000355221ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000487273ENST00000359530ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000487273ENST00000396774ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000487273ENST00000520188ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+
intron-intronENST00000487273ENST00000523899ADAM9chr8

38862833

+ATP6V1Hchr8

54742003

+

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 ADAM9-ATP6V1H


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.

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.

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Fusion Protein Features for ADAM9-ATP6V1H


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/:38854678/:54742443)
- 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
ADAM9

Q13443

ATP6V1H

Q9UI12

FUNCTION: Cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells via interactions with integrins. {ECO:0000250|UniProtKB:Q61072}.; FUNCTION: [Isoform 2]: May act as alpha-secretase for amyloid precursor protein (APP). {ECO:0000269|PubMed:12054541}.FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes. {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 ADAM9-ATP6V1H


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 ADAM9-ATP6V1H


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 ADAM9-ATP6V1H


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 ADAM9-ATP6V1H


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