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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:IAH1-ADAM17 (FusionGDB2 ID:38153)

Fusion Gene Summary for IAH1-ADAM17

check button Fusion gene summary
Fusion gene informationFusion gene name: IAH1-ADAM17
Fusion gene ID: 38153
HgeneTgene
Gene symbol

IAH1

ADAM17

Gene ID

285148

6868

Gene nameisoamyl acetate hydrolyzing esterase 1 (putative)ADAM metallopeptidase domain 17
Synonyms-ADAM18|CD156B|CSVP|NISBD|NISBD1|TACE
Cytomap

2p25.1

2p25.1

Type of geneprotein-codingprotein-coding
Descriptionisoamyl acetate-hydrolyzing esterase 1 homologtesticular tissue protein Li 92disintegrin and metalloproteinase domain-containing protein 17ADAM metallopeptidase domain 18TNF-alpha convertaseTNF-alpha converting enzymesnake venom-like proteasetumor necrosis factor, alpha, converting enzyme
Modification date2020031320200320
UniProtAcc.

P78536

Ensembl transtripts involved in fusion geneENST00000470914, ENST00000497473, 
ENST00000482918, ENST00000489468, 
ENST00000545602, 		ENST00000310823, 
ENST00000497134, 
Fusion gene scores* DoF score2 X 3 X 2=124 X 5 X 3=60
# samples 35
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IAH1 [Title/Abstract] AND ADAM17 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIAH1(9629677)-ADAM17(9673975), # samples:1
IAH1(9628924)-ADAM17(9628876), # 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
TgeneADAM17

GO:0001666

response to hypoxia

18276953

TgeneADAM17

GO:0006508

proteolysis

24227843

TgeneADAM17

GO:0006509

membrane protein ectodomain proteolysis

9034190|9574564|17786981|18676862

TgeneADAM17

GO:0007155

cell adhesion

14970227

TgeneADAM17

GO:0007173

epidermal growth factor receptor signaling pathway

12743035

TgeneADAM17

GO:0007220

Notch receptor processing

24226769

TgeneADAM17

GO:0032496

response to lipopolysaccharide

18383040

TgeneADAM17

GO:0033627

cell adhesion mediated by integrin

14970227

TgeneADAM17

GO:0043536

positive regulation of blood vessel endothelial cell migration

24813629

TgeneADAM17

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

18483258

TgeneADAM17

GO:0051088

PMA-inducible membrane protein ectodomain proteolysis

14625290|15691827|17010968

TgeneADAM17

GO:0071403

cellular response to high density lipoprotein particle stimulus

17786981

TgeneADAM17

GO:1905564

positive regulation of vascular endothelial cell proliferation

24813629


check buttonFusion gene breakpoints across IAH1 (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 ADAM17 (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
ChiTaRS5.0N/ABF333103IAH1chr2

9629677

+ADAM17chr2

9673975

-
ChiTaRS5.0N/ABG035981IAH1chr2

9628924

+ADAM17chr2

9628876

-


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Fusion Gene ORF analysis for IAH1-ADAM17

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
3UTR-3UTRENST00000470914ENST00000310823IAH1chr2

9628924

+ADAM17chr2

9628876

-
3UTR-3UTRENST00000497473ENST00000310823IAH1chr2

9628924

+ADAM17chr2

9628876

-
3UTR-intronENST00000470914ENST00000310823IAH1chr2

9629677

+ADAM17chr2

9673975

-
3UTR-intronENST00000470914ENST00000497134IAH1chr2

9629677

+ADAM17chr2

9673975

-
3UTR-intronENST00000470914ENST00000497134IAH1chr2

9628924

+ADAM17chr2

9628876

-
3UTR-intronENST00000497473ENST00000497134IAH1chr2

9628924

+ADAM17chr2

9628876

-
intron-3UTRENST00000482918ENST00000310823IAH1chr2

9628924

+ADAM17chr2

9628876

-
intron-3UTRENST00000489468ENST00000310823IAH1chr2

9628924

+ADAM17chr2

9628876

-
intron-3UTRENST00000545602ENST00000310823IAH1chr2

9628924

+ADAM17chr2

9628876

-
intron-intronENST00000482918ENST00000310823IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000482918ENST00000497134IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000482918ENST00000497134IAH1chr2

9628924

+ADAM17chr2

9628876

-
intron-intronENST00000489468ENST00000310823IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000489468ENST00000497134IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000489468ENST00000497134IAH1chr2

9628924

+ADAM17chr2

9628876

-
intron-intronENST00000497473ENST00000310823IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000497473ENST00000497134IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000545602ENST00000310823IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000545602ENST00000497134IAH1chr2

9629677

+ADAM17chr2

9673975

-
intron-intronENST00000545602ENST00000497134IAH1chr2

9628924

+ADAM17chr2

9628876

-

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 IAH1-ADAM17


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 IAH1-ADAM17


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/:9629677/:9673975)
- 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
.ADAM17

P78536

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: Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R, leading to the release of secreted form of IL6R (PubMed:26876177, PubMed:28060820). {ECO:0000250|UniProtKB:Q9Z0F8, ECO:0000269|PubMed:12441351, ECO:0000269|PubMed:20592283, ECO:0000269|PubMed:24226769, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:26876177, ECO:0000269|PubMed:28060820, ECO:0000269|PubMed:9034191}.

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 IAH1-ADAM17


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 IAH1-ADAM17


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 IAH1-ADAM17


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 IAH1-ADAM17


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