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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:IQGAP1-YWHAZ (FusionGDB2 ID:HG8826TG7534)

Fusion Gene Summary for IQGAP1-YWHAZ

check button Fusion gene summary
Fusion gene informationFusion gene name: IQGAP1-YWHAZ
Fusion gene ID: hg8826tg7534
HgeneTgene
Gene symbol

IQGAP1

YWHAZ

Gene ID

8826

7534

Gene nameIQ motif containing GTPase activating protein 1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
SynonymsHUMORFA01|SAR1|p19514-3-3-zeta|HEL-S-3|HEL-S-93|HEL4|KCIP-1|POPCHAS|YWHAD
Cytomap('IQGAP1')('YWHAZ')

15q26.1

8q22.3

Type of geneprotein-codingprotein-coding
Descriptionras GTPase-activating-like protein IQGAP1RasGAP-like with IQ motifs14-3-3 protein zeta/delta14-3-3 delta14-3-3 protein/cytosolic phospholipase A214-3-3 zetaepididymis luminal protein 4epididymis secretory protein Li 3epididymis secretory protein Li 93phospholipase A2protein kinase C inhibitor protein-1tyrosine 3
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000268182, ENST00000560738, 
ENST00000560020, 
Fusion gene scores* DoF score27 X 20 X 12=648011 X 10 X 7=770
# samples 3215
** MAII scorelog2(32/6480*10)=-4.33985000288463
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/770*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointIQGAP1(91016227)-YWHAZ(101964217), # 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
HgeneIQGAP1

GO:0071277

cellular response to calcium ion

18567582

TgeneYWHAZ

GO:0070372

regulation of ERK1 and ERK2 cascade

31024343

TgeneYWHAZ

GO:0090128

regulation of synapse maturation

16959763



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
ChimerDB4COADTCGA-CM-4748-01AIQGAP1chr15

91016227

+YWHAZchr8

101964217

-


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Fusion Gene ORF analysis for IQGAP1-YWHAZ

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-5UTRENST00000268182ENST00000395957IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-5UTRENST00000268182ENST00000395958IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-5UTRENST00000268182ENST00000492736IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-5UTRENST00000268182ENST00000521309IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-5UTRENST00000560738ENST00000395957IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-5UTRENST00000560738ENST00000395958IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-5UTRENST00000560738ENST00000492736IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-5UTRENST00000560738ENST00000521309IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000353245IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000395948IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000395951IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000395953IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000395956IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000419477IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000457309IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000522542IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000268182ENST00000522819IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000353245IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000395948IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000395951IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000395953IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000395956IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000419477IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000457309IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000522542IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
5CDS-intronENST00000560738ENST00000522819IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-5UTRENST00000560020ENST00000395957IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-5UTRENST00000560020ENST00000395958IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-5UTRENST00000560020ENST00000492736IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-5UTRENST00000560020ENST00000521309IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000353245IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000395948IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000395951IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000395953IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000395956IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000419477IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000457309IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000522542IQGAP1chr15

91016227

+YWHAZchr8

101964217

-
intron-intronENST00000560020ENST00000522819IQGAP1chr15

91016227

+YWHAZchr8

101964217

-

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 IQGAP1-YWHAZ


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 IQGAP1-YWHAZ


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/:91016227/:101964217)
- 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 IQGAP1-YWHAZ


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 IQGAP1-YWHAZ


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 IQGAP1-YWHAZ


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 IQGAP1-YWHAZ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIQGAP1C0006118Brain Neoplasms1CTD_human
HgeneIQGAP1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneIQGAP1C0043094Weight Gain1CTD_human
HgeneIQGAP1C0153633Malignant neoplasm of brain1CTD_human
HgeneIQGAP1C0496899Benign neoplasm of brain, unspecified1CTD_human
HgeneIQGAP1C0750974Brain Tumor, Primary1CTD_human
HgeneIQGAP1C0750977Recurrent Brain Neoplasm1CTD_human
HgeneIQGAP1C0750979Primary malignant neoplasm of brain1CTD_human
HgeneIQGAP1C1527390Neoplasms, Intracranial1CTD_human
HgeneIQGAP1C2239176Liver carcinoma1CTD_human
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0007097Carcinoma1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0027643Neoplasm Recurrence, Local1CTD_human
TgeneC0036349Paranoid Schizophrenia1PSYGENET
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human