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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:DIP2A-ITGAX (FusionGDB2 ID:22827)

Fusion Gene Summary for DIP2A-ITGAX

check button Fusion gene summary
Fusion gene informationFusion gene name: DIP2A-ITGAX
Fusion gene ID: 22827
HgeneTgene
Gene symbol

DIP2A

ITGAX

Gene ID

23181

3687

Gene namedisco interacting protein 2 homolog Aintegrin subunit alpha X
SynonymsC21orf106|DIP2CD11C|SLEB6
Cytomap

21q22.3

16p11.2

Type of geneprotein-codingprotein-coding
Descriptiondisco-interacting protein 2 homolog ADIP2 disco-interacting protein 2 homolog ADIP2 homolog Adisco-interacting protein 2Aintegrin alpha-XCD11 antigen-like family member Ccomplement component 3 receptor 4 subunitintegrin alpha Xintegrin, alpha X (antigen CD11C (p150), alpha polypeptide)integrin, alpha X (complement component 3 receptor 4 subunit)leu M5, alpha subunitl
Modification date2020031320200313
UniProtAcc

Q14689

P20702

Ensembl transtripts involved in fusion geneENST00000318711, ENST00000400274, 
ENST00000417564, ENST00000427143, 
ENST00000435722, ENST00000457905, 
ENST00000466639, ENST00000479654, 
ENST00000268296, ENST00000562522, 
ENST00000562918, 
Fusion gene scores* DoF score14 X 14 X 8=15685 X 4 X 1=20
# samples 135
** MAII scorelog2(13/1568*10)=-3.59234203108675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DIP2A [Title/Abstract] AND ITGAX [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIP2A(47973885)-ITGAX(31369612), # 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
HgeneDIP2A

GO:0010629

negative regulation of gene expression

20860622


check buttonFusion gene breakpoints across DIP2A (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 ITGAX (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
ChiTaRS5.0N/ACD370606DIP2Achr21

47973885

+ITGAXchr16

31369612

-


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Fusion Gene ORF analysis for DIP2A-ITGAX

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
intron-intronENST00000318711ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000318711ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000318711ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000400274ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000400274ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000400274ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000417564ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000417564ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000417564ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000427143ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000427143ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000427143ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000435722ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000435722ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000435722ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000457905ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000457905ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000457905ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000466639ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000466639ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000466639ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000479654ENST00000268296DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000479654ENST00000562522DIP2Achr21

47973885

+ITGAXchr16

31369612

-
intron-intronENST00000479654ENST00000562918DIP2Achr21

47973885

+ITGAXchr16

31369612

-

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 DIP2A-ITGAX


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.

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 DIP2A-ITGAX


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/:47973885/:31369612)
- 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
DIP2A

Q14689

ITGAX

P20702

FUNCTION: Catalyzes the de novo synthesis of acetyl-CoA in vitro (By similarity). Promotes acetylation of CTTN, possibly by providing the acetyl donor, ensuring correct dendritic spine morphology and synaptic transmission (By similarity). Binds to follistatin-related protein FSTL1 and may act as a cell surface receptor for FSTL1, contributing to AKT activation and subsequent FSTL1-induced survival and function of endothelial cells and cardiac myocytes (PubMed:20054002). {ECO:0000250|UniProtKB:Q8BWT5, ECO:0000269|PubMed:20054002}.FUNCTION: Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis.

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 DIP2A-ITGAX


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 DIP2A-ITGAX


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 DIP2A-ITGAX


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 DIP2A-ITGAX


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