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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:IQGAP2-CA5B (FusionGDB2 ID:HG10788TG11238)

Fusion Gene Summary for IQGAP2-CA5B

check button Fusion gene summary
Fusion gene informationFusion gene name: IQGAP2-CA5B
Fusion gene ID: hg10788tg11238
HgeneTgene
Gene symbol

IQGAP2

CA5B

Gene ID

10788

11238

Gene nameIQ motif containing GTPase activating protein 2carbonic anhydrase 5B
Synonyms-CA-VB|CAVB
Cytomap('IQGAP2')('CA5B')

5q13.3

Xp22.2

Type of geneprotein-codingprotein-coding
Descriptionras GTPase-activating-like protein IQGAP2carbonic anhydrase 5B, mitochondrialcarbonate dehydratase VBcarbonic anhydrase VB, mitochondrialcarbonic dehydratase
Modification date2020031320200313
UniProtAcc

Q13576

Q9Y2D0

Ensembl transtripts involved in fusion geneENST00000274364, ENST00000379730, 
ENST00000396234, ENST00000502745, 
ENST00000508410, 
Fusion gene scores* DoF score7 X 6 X 3=1262 X 2 X 2=8
# samples 72
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: IQGAP2 [Title/Abstract] AND CA5B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIQGAP2(76003957)-CA5B(15754246), # 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
HgeneIQGAP2

GO:0034314

Arp2/3 complex-mediated actin nucleation

12515716

HgeneIQGAP2

GO:0070493

thrombin-activated receptor signaling pathway

12515716



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/AAW020378IQGAP2chr5

76003957

+CA5BchrX

15754246

+


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Fusion Gene ORF analysis for IQGAP2-CA5B

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-intronENST00000274364ENST00000318636IQGAP2chr5

76003957

+CA5BchrX

15754246

+
5CDS-intronENST00000274364ENST00000380313IQGAP2chr5

76003957

+CA5BchrX

15754246

+
5CDS-intronENST00000274364ENST00000454127IQGAP2chr5

76003957

+CA5BchrX

15754246

+
5CDS-intronENST00000379730ENST00000318636IQGAP2chr5

76003957

+CA5BchrX

15754246

+
5CDS-intronENST00000379730ENST00000380313IQGAP2chr5

76003957

+CA5BchrX

15754246

+
5CDS-intronENST00000379730ENST00000454127IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000396234ENST00000318636IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000396234ENST00000380313IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000396234ENST00000454127IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000502745ENST00000318636IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000502745ENST00000380313IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000502745ENST00000454127IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000508410ENST00000318636IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000508410ENST00000380313IQGAP2chr5

76003957

+CA5BchrX

15754246

+
intron-intronENST00000508410ENST00000454127IQGAP2chr5

76003957

+CA5BchrX

15754246

+

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 IQGAP2-CA5B


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 IQGAP2-CA5B


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/:76003957/:15754246)
- 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
IQGAP2

Q13576

CA5B

Q9Y2D0

FUNCTION: Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin.FUNCTION: Reversible hydration of carbon dioxide.

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 IQGAP2-CA5B


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 IQGAP2-CA5B


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 IQGAP2-CA5B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCA5BQ9Y2D0DB00909ZonisamideInhibitorSmall moleculeApproved|Investigational

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Related Diseases for IQGAP2-CA5B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIQGAP2C0006118Brain Neoplasms1CTD_human
HgeneIQGAP2C0153633Malignant neoplasm of brain1CTD_human
HgeneIQGAP2C0496899Benign neoplasm of brain, unspecified1CTD_human
HgeneIQGAP2C0750974Brain Tumor, Primary1CTD_human
HgeneIQGAP2C0750977Recurrent Brain Neoplasm1CTD_human
HgeneIQGAP2C0750979Primary malignant neoplasm of brain1CTD_human
HgeneIQGAP2C1527390Neoplasms, Intracranial1CTD_human
HgeneIQGAP2C2239176Liver carcinoma1CTD_human