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in Kim Lab

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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-TESMIN (FusionGDB2 ID:HG8754TG9633)

Fusion Gene Summary for ADAM9-TESMIN

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAM9-TESMIN
Fusion gene ID: hg8754tg9633
HgeneTgene
Gene symbol

ADAM9

TESMIN

Gene ID

8754

9633

Gene nameADAM metallopeptidase domain 9testis expressed metallothionein like protein
SynonymsCORD9|MCMP|MDC9|MltngCXCDC2|MTL5|MTLT
Cytomap('ADAM9','ADAM9')('MTL5','TESMIN')

8p11.22

11q13.3

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 metalloproteinasetesminCXC domain containing 2metallothionein-like 5, testis-specific (tesmin)testis-specific metallothionein-like protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000487273, ENST00000466936, 
ENST00000481513, ENST00000484143, 
Fusion gene scores* DoF score27 X 19 X 12=61565 X 4 X 5=100
# samples 317
** MAII scorelog2(31/6156*10)=-4.31165311105397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/100*10)=-0.514573172829758
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointADAM9(38928922)-MTL5(68483407), # samples:1
ADAM9(38928922)-TESMIN(68483407), # samples:1
Anticipated loss of major functional domain due to fusion event.ADAM9-MTL5 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.
ADAM9-MTL5 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.
ADAM9-MTL5 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.
ADAM9-MTL5 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
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


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.
all structure
check buttonFusion gene breakpoints across TESMIN (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
ChimerDB4BLCATCGA-LT-A8JT-01AADAM9chr8

38928922

-MTL5chr11

68483407

-
ChimerDB4BLCATCGA-LT-A8JT-01AADAM9chr8

38928922

+TESMINchr11

68483407

-


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Fusion Gene ORF analysis for ADAM9-TESMIN

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-intronENST00000487273ENST00000443940ADAM9chr8

38928922

-MTL5chr11

68483407

-
5CDS-intronENST00000487273ENST00000540869ADAM9chr8

38928922

-MTL5chr11

68483407

-
5CDS-intronENST00000487273ENST00000544963ADAM9chr8

38928922

-MTL5chr11

68483407

-
In-frameENST00000487273ENST00000255087ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-3CDSENST00000466936ENST00000255087ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-3CDSENST00000481513ENST00000255087ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-3CDSENST00000484143ENST00000255087ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000466936ENST00000443940ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000466936ENST00000540869ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000466936ENST00000544963ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000481513ENST00000443940ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000481513ENST00000540869ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000481513ENST00000544963ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000484143ENST00000443940ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000484143ENST00000540869ADAM9chr8

38928922

-MTL5chr11

68483407

-
intron-intronENST00000484143ENST00000544963ADAM9chr8

38928922

-MTL5chr11

68483407

-

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)
ENST00000487273ADAM9chr838928922-ENST00000255087MTL5chr1168483407-32531775782384768

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
ENST00000487273ENST00000255087ADAM9chr838928922-MTL5chr1168483407-0.0002625440.99973744

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Fusion Genomic Features for ADAM9-TESMIN


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 ADAM9-TESMIN


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/:38928922/:68483407)
- 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
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-1522212_406565820.0DomainPeptidase M12B
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-1522414_501565820.0DomainDisintegrin
TgeneMTL5chr8:38928922chr11:68483407ENST0000044394005292_4050252.0DomainCRC
TgeneMTL5chr8:38928922chr11:68483407ENST0000054496306292_4050307.0DomainCRC

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-1522505_634565820.0Compositional biasNote=Cys-rich
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-1522790_795565820.0Compositional biasNote=Poly-Pro
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-1522644_698565820.0DomainEGF-like
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-152229_697565820.0Topological domainExtracellular
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-1522719_819565820.0Topological domainCytoplasmic
HgeneADAM9chr8:38928922chr11:68483407ENST00000487273-1522698_718565820.0TransmembraneHelical
TgeneMTL5chr8:38928922chr11:68483407ENST00000255087510292_405305509.0DomainCRC


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Fusion Gene Sequence for ADAM9-TESMIN


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.
>2024_2024_1_ADAM9-MTL5_ADAM9_chr8_38928922_ENST00000487273_MTL5_chr11_68483407_ENST00000255087_length(transcript)=3253nt_BP=1775nt
CGGCAGGGTTGGAAAATGATGGAAGAGGCGGAGGTGGAGGCGACCGAGTGCTGAGAGGAACCTGCGGAATCGGCCGAGATGGGGTCTGGC
GCGCGCTTTCCCTCGGGGACCCTTCGTGTCCGGTGGTTGCTGTTGCTTGGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGCCAGGCTTT
CAACAGACCTCACATCTTTCTTCTTATGAAATTATAACTCCTTGGAGATTAACTAGAGAAAGAAGAGAAGCCCCTAGGCCCTATTCAAAA
CAAGTATCTTATGTTATTCAGGCTGAAGGAAAAGAGCATATTATTCACTTGGAAAGGAACAAAGACCTTTTGCCTGAAGATTTTGTGGTT
TATACTTACAACAAGGAAGGGACTTTAATCACTGACCATCCCAATATACAGAATCATTGTCATTATCGGGGCTATGTGGAGGGAGTTCAT
AATTCATCCATTGCTCTTAGCGACTGTTTTGGACTCAGAGGATTGCTGCATTTAGAGAATGCGAGTTATGGGATTGAACCCCTGCAGAAC
AGCTCTCATTTTGAGCACATCATTTATCGAATGGATGATGTCTACAAAGAGCCTCTGAAATGTGGAGTTTCCAACAAGGATATAGAGAAA
GAAACTGCAAAGGATGAAGAGGAAGAGCCTCCCAGCATGACTCAGCTACTTCGAAGAAGAAGAGCTGTCTTGCCACAGACCCGGTATGTG
GAGCTGTTCATTGTCGTAGACAAGGAAAGGTATGACATGATGGGAAGAAATCAGACTGCTGTGAGAGAAGAGATGATTCTCCTGGCAAAC
TACTTGGATAGTATGTATATTATGTTAAATATTCGAATTGTGCTAGTTGGACTGGAGATTTGGACCAATGGAAACCTGATCAACATAGTT
GGGGGTGCTGGTGATGTGCTGGGGAACTTCGTGCAGTGGCGGGAAAAGTTTCTTATCACACGTCGGAGACATGACAGTGCACAGCTAGTT
CTAAAGAAAGGTTTTGGTGGAACTGCAGGAATGGCATTTGTGGGAACAGTGTGTTCAAGGAGCCACGCAGGCGGGATTAATGTGTTTGGA
CAAATCACTGTGGAGACATTTGCTTCCATTGTTGCTCATGAATTGGGTCATAATCTTGGAATGAATCACGATGATGGGAGAGATTGTTCC
TGTGGAGCAAAGAGCTGCATCATGAATTCAGGAGCATCGGGTTCCAGAAACTTTAGCAGTTGCAGTGCAGAGGACTTTGAGAAGTTAACT
TTAAATAAAGGAGGAAACTGCCTTCTTAATATTCCAAAGCCTGATGAAGCCTATAGTGCTCCCTCCTGTGGTAATAAGTTGGTGGACGCT
GGGGAAGAGTGTGACTGTGGTACTCCAAAGGAATGTGAATTGGACCCTTGCTGCGAAGGAAGTACCTGTAAGCTTAAATCATTTGCTGAG
TGTGCATATGGTGACTGTTGTAAAGACTGTCGGTTCCTTCCAGGAGGTACTTTATGCCGAGGAAAAACCAGTGAGTGTGATGTTCCAGAG
TACTGCAATGGTTCTTCTCAGTTCTGTCAGCCAGATGTTTTTATTCAGAATGGATATCCTTGCCAGAATAACAAAGCCTATTGCTACAAC
GGCATGTGCCAGTATTATGATGCTCAATGTCAAGTCATCTTTGGCTCAAAAGCCAAGGCTGCCCCCAAAGATTGTTTCATTGAAGTGAAT
TCTAAAGGTGACAGATTTGGCAATTGTGGTTTCTCTGGCAATGAATACAAGAAGTGTGCCACTGGGTACTGTGACTGCTTTGCCAGTGGG
GACTTTTGCAACAACTGCAATTGTAATAATTGTTGCAACAACTTGCATCATGATATTGAACGGTTTAAAGCCATTAAGGCATGTCTTGGT
AGAAATCCAGAAGCTTTCCAGCCAAAAATTGGGAAGGGCCAATTGGGCAATGTCAAGCCCCAGCACAACAAAGGGTGCAACTGCAGGAGG
TCAGGCTGCCTGAAGAATTACTGCGAGTGCTATGAGGCCCAAATTATGTGTTCTTCTATTTGCAAATGCATTGGTTGCAAAAATTATGAA
GAAAGCCCAGAACGAAAGACACTAATGAGCATGCCAAACTACATGCAGACTGGAGGTTTGGAAGGCAGCCATTACCTGCCACCAACGAAA
TTTTCAGGACTTCCAAGATTCAGTCACGATAGGCGGCCTTCCTCATGCATCTCCTGGGAGGTGGTGGAGGCCACATGCGCCTGCCTGCTT
GCTCAGGGAGAAGAGGCCGAGAAAGAACACTGCTCCAAGTGCCTGGCAGAGCAGATGATCCTGGAGGAATTTGGAAGGTGCTTATCACAG
ATTCTCCACACTGAGTTTAAATCTAAGGGATTGAAAATGGAGTAGAGTATAAAGTGTGAATGCATGTTGATTTTGTCTTAGTCTAGAAAT
CTCTAGTTTAGAAAGGATGTTTAGGGGAACATGAGGCTGGCTCTGCAGCAACAACCAGGCTCCCCTGCATCCCTGGGCCCAGGGAGTTTA
CTCAGAGCTCTCTGAAGATGTGGCAACCCATGCCCCCTTTTCTGAGGAGGTGCATGGCCTGAGCATTGTTTGTCTGGCCCAGAGGAGAGA
GCTTGGGTTCCCATAGTCCTGGGAGAGTGTCTGCAGGGCGGCGGAGGGCAGAGCAGGGCAGGGGAGGGCACAGCAGGCCCTGCGAAGGGC
AGAGCGGGGCAGGGGAGGGCAGAGCAGGCCCTGCGGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCTCTGGAGGCTGCT
CTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTATTTAGAAATAAGTTCTCCGGATGGGCTGTTGTGATACCACTTAAAAT
CTCTAGAGAACTACTGAACACCTAAAGATTTTCTGTAGCGTAGATATTTCCCCAGAGGCACGCGAACTGTCAGTCTTTCCTAAGGCCCCC
GGGAGACGCAGGCAATGGGGCCTCGCAGGCCAGGCTTGCACCAGCATGTCTTGAGTTAGAGGACTTAAAATTATCCAGTTTCTTCTGTGT
TTCTACTTGAATTGTGGAAAAGCTCTATTATCCAATTAACTTCTCCATAATTATTGTTGTAATATTATTATTGTTTGTAAAACATGGTTC
ACATAACTAGCTTGTGGAAACCAGCAGGTAAAATGAATTCTTAAGTTGACGCTTTTGGTTCTGTTGTAAAGCAAAGATGAATAAAAATTT

>2024_2024_1_ADAM9-MTL5_ADAM9_chr8_38928922_ENST00000487273_MTL5_chr11_68483407_ENST00000255087_length(amino acids)=768AA_BP=566
MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYEIITPWRLTRERREAPRPYSKQVSYVIQAEGKEHIIHLERNKDLLPE
DFVVYTYNKEGTLITDHPNIQNHCHYRGYVEGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEHIIYRMDDVYKEPLKCGVSNK
DIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFIVVDKERYDMMGRNQTAVREEMILLANYLDSMYIMLNIRIVLVGLEIWTNGNL
INIVGGAGDVLGNFVQWREKFLITRRRHDSAQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFGQITVETFASIVAHELGHNLGMNHDDG
RDCSCGAKSCIMNSGASGSRNFSSCSAEDFEKLTLNKGGNCLLNIPKPDEAYSAPSCGNKLVDAGEECDCGTPKECELDPCCEGSTCKLK
SFAECAYGDCCKDCRFLPGGTLCRGKTSECDVPEYCNGSSQFCQPDVFIQNGYPCQNNKAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCF
IEVNSKGDRFGNCGFSGNEYKKCATGYCDCFASGDFCNNCNCNNCCNNLHHDIERFKAIKACLGRNPEAFQPKIGKGQLGNVKPQHNKGC
NCRRSGCLKNYCECYEAQIMCSSICKCIGCKNYEESPERKTLMSMPNYMQTGGLEGSHYLPPTKFSGLPRFSHDRRPSSCISWEVVEATC

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Fusion Gene PPI Analysis for ADAM9-TESMIN


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-TESMIN


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-TESMIN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADAM9C0015397Disorder of eye1GENOMICS_ENGLAND
HgeneADAM9C0033578Prostatic Neoplasms1CTD_human
HgeneADAM9C0376358Malignant neoplasm of prostate1CTD_human
HgeneADAM9C1423873CONE-ROD DYSTROPHY 91CTD_human;GENOMICS_ENGLAND
HgeneADAM9C3489532Cone-Rod Dystrophy 21ORPHANET