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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ANKRD32-IQGAP2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ANKRD32-IQGAP2
FusionPDB ID: 4697
FusionGDB2.0 ID: 4697
HgeneTgene
Gene symbol

ANKRD32

IQGAP2

Gene ID

84250

10788

Gene nameSMC5-SMC6 complex localization factor 1IQ motif containing GTPase activating protein 2
SynonymsANKRD32|BRCTD1|BRCTx-
Cytomap

5q15

5q13.3

Type of geneprotein-codingprotein-coding
DescriptionSMC5-SMC6 complex localization factor protein 1BRCT domain containing 1BRCT domain-containing protein 1ankyrin repeat domain 32ankyrin repeat domain-containing protein 32smc5/6 localization factor 1ras GTPase-activating-like protein IQGAP2
Modification date2020031320200313
UniProtAcc.

Q13576

Ensembl transtripts involved in fusion geneENST idsENST00000265140, ENST00000493934, 
ENST00000379730, ENST00000396234, 
ENST00000502745, ENST00000508410, 
ENST00000274364, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score1 X 1 X 1=17 X 8 X 4=224
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ANKRD32 [Title/Abstract] AND IQGAP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ANKRD32(93966448)-IQGAP2(75902004), # samples:1
Anticipated loss of major functional domain due to fusion event.ANKRD32-IQGAP2 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.
ANKRD32-IQGAP2 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.
ANKRD32-IQGAP2 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.
ANKRD32-IQGAP2 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
HgeneANKRD32

GO:0006974

cellular response to DNA damage stimulus

25931565

HgeneANKRD32

GO:1990166

protein localization to site of double-strand break

25931565

HgeneANKRD32

GO:2000781

positive regulation of double-strand break repair

25931565

TgeneIQGAP2

GO:0034314

Arp2/3 complex-mediated actin nucleation

12515716

TgeneIQGAP2

GO:0070493

thrombin-activated receptor signaling pathway

12515716


check buttonFusion gene breakpoints across ANKRD32 (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 IQGAP2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-HU-A4GN-01AANKRD32chr5

93966448

+IQGAP2chr5

75902004

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000265140ANKRD32chr593966448+ENST00000274364IQGAP2chr575902004+516585034743451332

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
ENST00000265140ENST00000274364ANKRD32chr593966448+IQGAP2chr575902004+0.0005098160.99949014

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>4697_4697_1_ANKRD32-IQGAP2_ANKRD32_chr5_93966448_ENST00000265140_IQGAP2_chr5_75902004_ENST00000274364_length(amino acids)=1332AA_BP=167
MSAAAAVVAPAAAATEGSIPDTGKMEDGTPKHIIQMTGFKMEEKEALVKLLLKLDCTFIKSEKYKNCTHLIAERLCKSEKFLAACAAGKW
ILTKDYIIHSAKSGRWLDETTYEWGYKIEKDSRYSPQMQSAPKRWREELKRTGAPGAFHRWKVVLLVRTDKRSDSLISYANTLLSVKLEV
LSQGQDNLSWNEIQNCIDMVNAQIQEENDRVVAVGYINEAIDEGNPLRTLETLLLPTANISDVDPAHAQHYQDVLYHAKSQKLGDSESVS
KVLWLDEIQQAVDDANVDKDRAKQWVTLVVDVNQCLEGKKSSDILSVLKSSTSNANDIIPECADKYYDALVKAKELKSERVSSDGSWLKL
NLHKKYDYYYNTDSKESSWVTPESCLYKESWLTGKEIEDIIEEVTVGYIRENIWSASEELLLRFQATSSGPILREEFEARKSFLHEQEEN
VVKIQAFWKGYKQRKEYMHRRQTFIDNTDSIVKIQSWFRMATARKSYLSRLQYFRDHNNEIVKIQSLLRANKARDDYKTLVGSENPPLTV
IRKFVYLLDQSDLDFQEELEVARLREEVVTKIRANQQLEKDLNLMDIKIGLLVKNRITLEDVISHSKKLNKKKGGEMEILNNTDNQGIKS
LSKERRKTLETYQQLFYLLQTNPLYLAKLIFQMPQNKSTKFMDTVIFTLYNYASNQREEYLLLKLFKTALEEEIKSKVDQVQDIVTGNPT
VIKMVVSFNRGARGQNTLRQLLAPVVKEIIDDKSLIINTNPVEVYKAWVNQLETQTGEASKLPYDVTTEQALTYPEVKNKLEASIENLRR
VTDKVLNSIISSLDLLPYGLRYIAKVLKNSIHEKFPDATEDELLKIVGNLLYYRYMNPAIVAPDGFDIIDMTAGGQINSDQRRNLGSVAK
VLQHAASNKLFEGENEHLSSMNNYLSETYQEFRKYFKEACNVPEPEEKFNMDKYTDLVTVSKPVIYISIEEIISTHSLLLEHQDAIAPEK
NDLLSELLGSLGEVPTVESFLGEGAVDPNDPNKANTLSQLSKTEISLVLTSKYDIEDGEAIDSRSLMIKTKKLIIDVIRNQPGNTLTEIL
ETPATAQQEVDHATDMVSRAMIDSRTPEEMKHSQSMIEDAQLPLEQKKRKIQRNLRTLEQTGHVSSENKYQDILNEIAKDIRNQRIYRKL
RKAELAKLQQTLNALNKKAAFYEEQINYYDTYIKTCLDNLKRKNTRRSIKLDGKGEPKGAKRAKPVKYTAAKLHEKGVLLDIDDLQTNQF

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Fusion Protein Functional Features


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/chr5:93966448/chr5:75902004)
- 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

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKRD32chr5:93966448chr5:75902004ENST00000265140+42112_77143.666666666666661059.0DomainNote=BRCT 1
TgeneIQGAP2chr5:93966448chr5:75902004ENST00000396234024263_26601072.0Compositional biasNote=Poly-Lys
TgeneIQGAP2chr5:93966448chr5:75902004ENST000002743641036594_627410.66666666666671576.0DomainWW
TgeneIQGAP2chr5:93966448chr5:75902004ENST000002743641036690_719410.66666666666671576.0DomainIQ 1
TgeneIQGAP2chr5:93966448chr5:75902004ENST000002743641036720_749410.66666666666671576.0DomainIQ 2
TgeneIQGAP2chr5:93966448chr5:75902004ENST000002743641036750_779410.66666666666671576.0DomainIQ 3
TgeneIQGAP2chr5:93966448chr5:75902004ENST000002743641036917_1150410.66666666666671576.0DomainRas-GAP
TgeneIQGAP2chr5:93966448chr5:75902004ENST0000039623402441_15601072.0DomainCalponin-homology (CH)
TgeneIQGAP2chr5:93966448chr5:75902004ENST00000396234024594_62701072.0DomainWW
TgeneIQGAP2chr5:93966448chr5:75902004ENST00000396234024690_71901072.0DomainIQ 1
TgeneIQGAP2chr5:93966448chr5:75902004ENST00000396234024720_74901072.0DomainIQ 2
TgeneIQGAP2chr5:93966448chr5:75902004ENST00000396234024750_77901072.0DomainIQ 3
TgeneIQGAP2chr5:93966448chr5:75902004ENST00000396234024917_115001072.0DomainRas-GAP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKRD32chr5:93966448chr5:75902004ENST00000265140+421119_196143.666666666666661059.0DomainNote=BRCT 2
HgeneANKRD32chr5:93966448chr5:75902004ENST00000265140+421806_836143.666666666666661059.0RepeatNote=ANK 1
HgeneANKRD32chr5:93966448chr5:75902004ENST00000265140+421840_869143.666666666666661059.0RepeatNote=ANK 2
HgeneANKRD32chr5:93966448chr5:75902004ENST00000265140+421874_903143.666666666666661059.0RepeatNote=ANK 3
TgeneIQGAP2chr5:93966448chr5:75902004ENST000002743641036263_266410.66666666666671576.0Compositional biasNote=Poly-Lys
TgeneIQGAP2chr5:93966448chr5:75902004ENST00000274364103641_156410.66666666666671576.0DomainCalponin-homology (CH)


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ANKRD32
IQGAP2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ANKRD32-IQGAP2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ANKRD32-IQGAP2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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