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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:ITPA-HLA-B (FusionGDB2 ID:HG3704TG3106)

Fusion Gene Summary for ITPA-HLA-B

check button Fusion gene summary
Fusion gene informationFusion gene name: ITPA-HLA-B
Fusion gene ID: hg3704tg3106
HgeneTgene
Gene symbol

ITPA

HLA-B

Gene ID

3704

3106

Gene nameinosine triphosphatasemajor histocompatibility complex, class I, B
SynonymsC20orf37|HLC14-06-P|ITPase|My049|NTPase|dJ794I6.3AS|B-4901|HLAB
Cytomap('ITPA')('HLA-B')

20p13

6p21.33

Type of geneprotein-codingprotein-coding
Descriptioninosine triphosphate pyrophosphataseepididymis secretory sperm binding proteininosine triphosphatase (nucleoside triphosphate pyrophosphatase)inosine triphosphate pyrophosphohydrolasenon-canonical purine NTP pyrophosphatasenon-standard purine NTP pyrmajor histocompatibility complex, class I, BHLA class I antigen HLA-BHLA class I histocompatibility antigen, B alpha chainMHC HLA-B cell surface glycoproteinMHC HLA-B transmembrane glycoproteinMHC class 1 antigenMHC class I antigen HLA-B alpha chain
Modification date2020032020200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000380113, ENST00000399838, 
ENST00000455664, ENST00000483354, 
Fusion gene scores* DoF score4 X 4 X 2=327 X 10 X 1=70
# samples 410
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/70*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ITPA [Title/Abstract] AND HLA-B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITPA(3202887)-HLA-B(31321654), # 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
TgeneHLA-B

GO:0002486

antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent

22031944

TgeneHLA-B

GO:0042270

protection from natural killer cell mediated cytotoxicity

2784569|8046333



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 ITPA-HLA-B

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 ITPA-HLA-B


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 ITPA-HLA-B


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/:3202887/:31321654)
- 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 ITPA-HLA-B


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 ITPA-HLA-B


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 ITPA-HLA-B


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 ITPA-HLA-B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITPAC0342800Inosine Triphosphatase Deficiency3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneITPAC4225256EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 353CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneITPAC0025521Inborn Errors of Metabolism2CTD_human
HgeneITPAC0002878Anemia, Hemolytic1CTD_human
HgeneITPAC0002879Anemia, Hemolytic, Acquired1CTD_human
HgeneITPAC0002889Anemia, Microangiopathic1CTD_human
HgeneITPAC0040034Thrombocytopenia1CTD_human
HgeneITPAC0221021Microangiopathic hemolytic anemia1CTD_human
TgeneC0014518Toxic Epidermal Necrolysis9CTD_human
TgeneC0038325Stevens-Johnson Syndrome9CTD_human;ORPHANET
TgeneC1274933Drug-Induced Stevens Johnson Syndrome9CTD_human
TgeneC3658301Mycoplasma-Induced Stevens-Johnson Syndrome9CTD_human
TgeneC3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum9CTD_human
TgeneC0013221Drug toxicity6CTD_human
TgeneC0041755Adverse reaction to drug6CTD_human
TgeneC0013182Drug Allergy4CTD_human
TgeneC0033687Proteinuria4CTD_human
TgeneC0038013Ankylosing spondylitis3CTD_human
TgeneC0004943Behcet Syndrome2CTD_human;ORPHANET
TgeneC0011603Dermatitis2CTD_human
TgeneC0011609Drug Eruptions2CTD_human
TgeneC0026896Myasthenia Gravis2CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0039263Takayasu Arteritis2ORPHANET
TgeneC0406537Morbilliform Drug Reaction2CTD_human
TgeneC0751339Myasthenia Gravis, Generalized2CTD_human
TgeneC0751340Myasthenia Gravis, Ocular2CTD_human
TgeneC0011633Dermatomyositis1CTD_human
TgeneC0015230Exanthema1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0019693HIV Infections1CTD_human
TgeneC0020517Hypersensitivity1CTD_human
TgeneC0026654Moyamoya Disease1GENOMICS_ENGLAND
TgeneC0027697Nephritis1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0039103Synovitis1CTD_human
TgeneC0221056Adult type dermatomyositis1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0263666Dermatomyositis, Childhood Type1CTD_human
TgeneC0410574Synovial Hypertrophy1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1527304Allergic Reaction1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4505456HIV Coinfection1CTD_human