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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:ADAM17-IQGAP1 (FusionGDB2 ID:HG6868TG8826)

Fusion Gene Summary for ADAM17-IQGAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAM17-IQGAP1
Fusion gene ID: hg6868tg8826
HgeneTgene
Gene symbol

ADAM17

IQGAP1

Gene ID

6868

8826

Gene nameADAM metallopeptidase domain 17IQ motif containing GTPase activating protein 1
SynonymsADAM18|CD156B|CSVP|NISBD|NISBD1|TACEHUMORFA01|SAR1|p195
Cytomap('ADAM17')('IQGAP1')

2p25.1

15q26.1

Type of geneprotein-codingprotein-coding
Descriptiondisintegrin and metalloproteinase domain-containing protein 17ADAM metallopeptidase domain 18TNF-alpha convertaseTNF-alpha converting enzymesnake venom-like proteasetumor necrosis factor, alpha, converting enzymeras GTPase-activating-like protein IQGAP1RasGAP-like with IQ motifs
Modification date2020032020200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000310823, ENST00000497134, 
ENST00000310823, ENST00000497134, 
Fusion gene scores* DoF score6 X 8 X 6=28817 X 15 X 7=1785
# samples 1119
** MAII scorelog2(11/288*10)=-1.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1785*10)=-3.23185275058551
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADAM17 [Title/Abstract] AND IQGAP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADAM17(9696276)-IQGAP1(91045103), # 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
HgeneADAM17

GO:0001666

response to hypoxia

18276953

HgeneADAM17

GO:0006508

proteolysis

24227843

HgeneADAM17

GO:0006509

membrane protein ectodomain proteolysis

9034190|9574564|17786981|18676862

HgeneADAM17

GO:0007155

cell adhesion

14970227

HgeneADAM17

GO:0007173

epidermal growth factor receptor signaling pathway

12743035

HgeneADAM17

GO:0007220

Notch receptor processing

24226769

HgeneADAM17

GO:0032496

response to lipopolysaccharide

18383040

HgeneADAM17

GO:0033627

cell adhesion mediated by integrin

14970227

HgeneADAM17

GO:0043536

positive regulation of blood vessel endothelial cell migration

24813629

HgeneADAM17

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

18483258

HgeneADAM17

GO:0051088

PMA-inducible membrane protein ectodomain proteolysis

14625290|15691827|17010968

HgeneADAM17

GO:0071403

cellular response to high density lipoprotein particle stimulus

17786981

HgeneADAM17

GO:1905564

positive regulation of vascular endothelial cell proliferation

24813629

TgeneIQGAP1

GO:0071277

cellular response to calcium ion

18567582



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


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Fusion Gene ORF analysis for ADAM17-IQGAP1

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

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 ADAM17-IQGAP1


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 ADAM17-IQGAP1


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/:9696276/:91045103)
- 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 ADAM17-IQGAP1


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 ADAM17-IQGAP1


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 ADAM17-IQGAP1


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 ADAM17-IQGAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADAM17C3280501INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 12CTD_human;GENOMICS_ENGLAND
HgeneADAM17C0005758Bulla1CTD_human
HgeneADAM17C0009319Colitis1CTD_human
HgeneADAM17C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneADAM17C3860213Autoinflammatory disorder1GENOMICS_ENGLAND
HgeneADAM17C4751120Neonatal inflammatory skin and bowel disease1ORPHANET
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human
TgeneC2239176Liver carcinoma1CTD_human