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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:ADAMTS9-CFTR (FusionGDB2 ID:HG56999TG1080)

Fusion Gene Summary for ADAMTS9-CFTR

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAMTS9-CFTR
Fusion gene ID: hg56999tg1080
HgeneTgene
Gene symbol

ADAMTS9

CFTR

Gene ID

56999

1080

Gene nameADAM metallopeptidase with thrombospondin type 1 motif 9CF transmembrane conductance regulator
Synonyms-ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1
Cytomap('ADAMTS9')('CFTR')

3p14.1

7q31.2

Type of geneprotein-codingprotein-coding
DescriptionA disintegrin and metalloproteinase with thrombospondin motifs 9a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9cystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000295903, ENST00000459780, 
ENST00000467257, ENST00000498707, 
Fusion gene scores* DoF score7 X 7 X 5=24513 X 15 X 10=1950
# samples 713
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1950*10)=-3.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADAMTS9 [Title/Abstract] AND CFTR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADAMTS9(64852932)-CFTR(117170953), # 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
HgeneADAMTS9

GO:0006508

proteolysis

12514189

TgeneCFTR

GO:0015701

bicarbonate transport

15010471|19019741

TgeneCFTR

GO:0034976

response to endoplasmic reticulum stress

21884936|28067262

TgeneCFTR

GO:1902476

chloride transmembrane transport

11524016|11707463|19019741

TgeneCFTR

GO:1902943

positive regulation of voltage-gated chloride channel activity

22006324

TgeneCFTR

GO:1904322

cellular response to forskolin

15010471|19621064



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
ChimerDB4KIRCTCGA-CJ-4905-01AADAMTS9chr3

64852932

+CFTRchr7

117170953

+


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Fusion Gene ORF analysis for ADAMTS9-CFTR

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
intron-3CDSENST00000295903ENST00000003084ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-3CDSENST00000295903ENST00000454343ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-3CDSENST00000459780ENST00000003084ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-3CDSENST00000459780ENST00000454343ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-3CDSENST00000467257ENST00000003084ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-3CDSENST00000467257ENST00000454343ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-3CDSENST00000498707ENST00000003084ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-3CDSENST00000498707ENST00000454343ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-intronENST00000295903ENST00000608965ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-intronENST00000459780ENST00000608965ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-intronENST00000467257ENST00000608965ADAMTS9chr3

64852932

+CFTRchr7

117170953

+
intron-intronENST00000498707ENST00000608965ADAMTS9chr3

64852932

+CFTRchr7

117170953

+

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 ADAMTS9-CFTR


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 ADAMTS9-CFTR


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/:64852932/:117170953)
- 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 ADAMTS9-CFTR


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 ADAMTS9-CFTR


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 ADAMTS9-CFTR


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 ADAMTS9-CFTR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADAMTS9C0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
HgeneADAMTS9C1855681Nephronophthisis, familial juvenile1ORPHANET
TgeneC0010674Cystic Fibrosis91CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0392164Pulmonary Cystic Fibrosis15CTD_human
TgeneC1527396Fibrocystic Disease of Pancreas15CTD_human
TgeneC0403814Congenital bilateral aplasia of vas deferens8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0238339Hereditary pancreatitis3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0021364Male infertility2CTD_human
TgeneC0030305Pancreatitis2CTD_human
TgeneC0267937Acute recurrent pancreatitis2ORPHANET
TgeneC0339985Idiopathic bronchiectasis2ORPHANET
TgeneC0848676Subfertility, Male2CTD_human
TgeneC0917731Male sterility2CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0004509Azoospermia1CTD_human
TgeneC0008340Choledochal Cyst1CTD_human
TgeneC0008370Cholestasis1GENOMICS_ENGLAND
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0009439Choledochal Cyst, Type I1CTD_human
TgeneC0013146Drug abuse1CTD_human
TgeneC0013170Drug habituation1CTD_human
TgeneC0013222Drug Use Disorders1CTD_human
TgeneC0019284Diaphragmatic Hernia1CTD_human
TgeneC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneC0035455Rhinitis1CTD_human
TgeneC0037199Sinusitis1CTD_human
TgeneC0038580Substance Dependence1CTD_human
TgeneC0038586Substance Use Disorders1CTD_human
TgeneC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneC0149521Pancreatitis, Chronic1CTD_human
TgeneC0236969Substance-Related Disorders1CTD_human
TgeneC0740858Substance abuse problem1CTD_human
TgeneC1257796Choledochal Cyst, Type II1CTD_human
TgeneC1257797Choledochal Cyst, Type III1CTD_human
TgeneC1257798Choledochal Cyst, Type IV1CTD_human
TgeneC1257799Choledochal Cyst, Type V1CTD_human
TgeneC1510472Drug Dependence1CTD_human
TgeneC4316881Prescription Drug Abuse1CTD_human