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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:ITSN1-CD276 (FusionGDB2 ID:40741)

Fusion Gene Summary for ITSN1-CD276

check button Fusion gene summary
Fusion gene informationFusion gene name: ITSN1-CD276
Fusion gene ID: 40741
HgeneTgene
Gene symbol

ITSN1

CD276

Gene ID

6453

80381

Gene nameintersectin 1CD276 molecule
SynonymsITSN|SH3D1A|SH3P174Ig-B7-H3|B7-H3|B7H3|B7RP-2
Cytomap

21q22.11

15q24.1

Type of geneprotein-codingprotein-coding
Descriptionintersectin-1SH3 domain-containing protein 1ASrc homology 3 domain-containing proteinhuman intersectin-SH3 domain-containing protein SH3P17intersectin 1 (SH3 domain protein)intersectin 1 short form variant 3intersectin 1 short form variant, 11interCD276 antigenB7 homolog 3costimulatory molecule
Modification date2020031320200313
UniProtAcc

Q15811

Q5ZPR3

Ensembl transtripts involved in fusion geneENST00000381285, ENST00000381291, 
ENST00000381318, ENST00000399349, 
ENST00000399352, ENST00000399353, 
ENST00000399355, ENST00000399367, 
ENST00000379960, ENST00000399326, 
ENST00000399338, ENST00000437442, 
ENST00000488166, 		ENST00000318424, 
ENST00000318443, ENST00000561213, 
ENST00000537340, ENST00000564751, 
Fusion gene scores* DoF score24 X 15 X 9=32405 X 5 X 3=75
# samples 265
** MAII scorelog2(26/3240*10)=-3.63941028474353
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITSN1 [Title/Abstract] AND CD276 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITSN1(35015019)-CD276(73991926), # 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
TgeneCD276

GO:0042102

positive regulation of T cell proliferation

11224528

TgeneCD276

GO:0042110

T cell activation

18650384

TgeneCD276

GO:0045078

positive regulation of interferon-gamma biosynthetic process

11224528


check buttonFusion gene breakpoints across ITSN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CD276 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-EW-A424ITSN1chr21

35015019

+CD276chr15

73991926

+


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Fusion Gene ORF analysis for ITSN1-CD276

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
5UTR-5UTRENST00000381285ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381285ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381285ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381291ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381291ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381291ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381318ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381318ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000381318ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399349ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399349ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399349ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399352ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399352ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399352ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399353ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399353ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399353ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399355ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399355ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399355ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399367ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399367ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-5UTRENST00000399367ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000381285ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000381285ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000381291ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000381291ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000381318ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000381318ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399349ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399349ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399352ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399352ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399353ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399353ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399355ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399355ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399367ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
5UTR-intronENST00000399367ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000379960ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000379960ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000379960ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000399326ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000399326ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000399326ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000399338ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000399338ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000399338ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000437442ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000437442ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000437442ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000488166ENST00000318424ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000488166ENST00000318443ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-5UTRENST00000488166ENST00000561213ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000379960ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000379960ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000399326ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000399326ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000399338ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000399338ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000437442ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000437442ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000488166ENST00000537340ITSN1chr21

35015019

+CD276chr15

73991926

+
intron-intronENST00000488166ENST00000564751ITSN1chr21

35015019

+CD276chr15

73991926

+

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 ITSN1-CD276


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)
ITSN1chr2135015019+CD276chr1573991926+2.42E-111
ITSN1chr2135015019+CD276chr1573991926+2.42E-111

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.

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.
genomic feature of top 1%

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Fusion Protein Features for ITSN1-CD276


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/:35015019/:73991926)
- 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
ITSN1

Q15811

CD276

Q5ZPR3

FUNCTION: Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex (PubMed:11584276). Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits (PubMed:29887380). Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2 (PubMed:22648170). Promotes ubiquitination and subsequent degradation of EGFR, and thereby contributes to the down-regulation of EGFR-dependent signaling pathways. In chromaffin cells, required for normal exocytosis of catecholamines. Required for rapid replenishment of release-ready synaptic vesicles at presynaptic active zones (By similarity). Inhibits ARHGAP31 activity toward RAC1 (PubMed:11744688). {ECO:0000250|UniProtKB:Q9WVE9, ECO:0000250|UniProtKB:Q9Z0R4, ECO:0000269|PubMed:11584276, ECO:0000269|PubMed:11744688, ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:29887380}.; FUNCTION: [Isoform 1]: Plays a role in synaptic vesicle endocytosis in brain neurons. {ECO:0000250|UniProtKB:Q9Z0R4}.FUNCTION: May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulate CD4 T-cell responses. Isoform 2 is shown to enhance the induction of cytotoxic T-cells and selectively stimulates interferon gamma production in the presence of T-cell receptor signaling. {ECO:0000269|PubMed:11224528, ECO:0000269|PubMed:12906861, ECO:0000269|PubMed:14764704, ECO:0000269|PubMed:15314238, ECO:0000269|PubMed:15682454, ECO:0000269|PubMed:15961727}.

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 ITSN1-CD276


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 ITSN1-CD276


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 ITSN1-CD276


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 ITSN1-CD276


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