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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:HSH2D-CIB3 (FusionGDB2 ID:37735)

Fusion Gene Summary for HSH2D-CIB3

check button Fusion gene summary
Fusion gene informationFusion gene name: HSH2D-CIB3
Fusion gene ID: 37735
HgeneTgene
Gene symbol

HSH2D

CIB3

Gene ID

84941

117286

Gene namehematopoietic SH2 domain containingcalcium and integrin binding family member 3
SynonymsALX|HSH2KIP3
Cytomap

19p13.11

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionhematopoietic SH2 domain-containing proteinadaptor in lymphocytes of unknown function Xcalcium and integrin-binding family member 3DNA-dependent protein kinase catalytic subunit-interacting protein 3
Modification date2020031320200313
UniProtAcc

Q96JZ2

Q96Q77

Ensembl transtripts involved in fusion geneENST00000253680, ENST00000588246, 
ENST00000593154, ENST00000397372, 
ENST00000541493, ENST00000379859, 
ENST00000269878, 
Fusion gene scores* DoF score4 X 4 X 2=326 X 5 X 5=150
# samples 59
** MAII scorelog2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/150*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSH2D [Title/Abstract] AND CIB3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSH2D(16259685)-CIB3(16275724), # samples:1
HSH2D(16259685)-CIB3(16280552), # samples:1
Anticipated loss of major functional domain due to fusion event.HSH2D-CIB3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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

check buttonFusion gene breakpoints across HSH2D (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 CIB3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4OVTCGA-04-1350-01AHSH2Dchr19

16259685

+CIB3chr19

16280552

-
ChimerDB4OVTCGA-04-1350HSH2Dchr19

16259685

+CIB3chr19

16275724

-


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Fusion Gene ORF analysis for HSH2D-CIB3

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-5UTRENST00000253680ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16275724

-
5CDS-5UTRENST00000588246ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16275724

-
5CDS-5UTRENST00000593154ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16275724

-
5CDS-intronENST00000253680ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16280552

-
5CDS-intronENST00000253680ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16280552

-
5CDS-intronENST00000588246ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16280552

-
5CDS-intronENST00000588246ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16280552

-
5CDS-intronENST00000593154ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16280552

-
5CDS-intronENST00000593154ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16280552

-
Frame-shiftENST00000253680ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16275724

-
Frame-shiftENST00000253680ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16275724

-
Frame-shiftENST00000588246ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16275724

-
Frame-shiftENST00000588246ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16275724

-
Frame-shiftENST00000593154ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16275724

-
Frame-shiftENST00000593154ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16275724

-
In-frameENST00000253680ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16280552

-
In-frameENST00000588246ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16280552

-
In-frameENST00000593154ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16280552

-
intron-3CDSENST00000397372ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16280552

-
intron-3CDSENST00000397372ENST00000269878HSH2Dchr19

16259685

+CIB3chr19

16275724

-
intron-3CDSENST00000397372ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16275724

-
intron-5UTRENST00000397372ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16275724

-
intron-intronENST00000397372ENST00000379859HSH2Dchr19

16259685

+CIB3chr19

16280552

-
intron-intronENST00000397372ENST00000541493HSH2Dchr19

16259685

+CIB3chr19

16280552

-

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 HSH2D-CIB3


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for HSH2D-CIB3


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/chr19:16259685/chr19:16275724)
- 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
HSH2D

Q96JZ2

CIB3

Q96Q77

FUNCTION: May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter. {ECO:0000250, ECO:0000269|PubMed:11700021, ECO:0000269|PubMed:12960172, ECO:0000269|PubMed:15284240}.

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
TgeneCIB3chr19:16259685chr19:16280552ENST0000026987816116_12728188.0Calcium binding1
TgeneCIB3chr19:16259685chr19:16280552ENST0000026987816157_16828188.0Calcium binding2
TgeneCIB3chr19:16259685chr19:16280552ENST0000026987816103_13828188.0DomainEF-hand 2
TgeneCIB3chr19:16259685chr19:16280552ENST0000026987816144_17928188.0DomainEF-hand 3
TgeneCIB3chr19:16259685chr19:16280552ENST000002698781666_10128188.0DomainEF-hand 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHSH2Dchr19:16259685chr19:16280552ENST00000253680+4934_12541353.0DomainSH2


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Fusion Gene Sequence for HSH2D-CIB3


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 HSH2D-CIB3


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 HSH2D-CIB3


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 HSH2D-CIB3


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