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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-THOC2 (FusionGDB2 ID:22818)

Fusion Gene Summary for DIP2A-THOC2

check button Fusion gene summary
Fusion gene informationFusion gene name: DIP2A-THOC2
Fusion gene ID: 22818
HgeneTgene
Gene symbol

DIP2A

THOC2

Gene ID

23181

57187

Gene namedisco interacting protein 2 homolog ATHO complex 2
SynonymsC21orf106|DIP2CXorf3|MRX12|MRX35|THO2|dJ506G2.1|hTREX120
Cytomap

21q22.3

Xq25

Type of geneprotein-codingprotein-coding
Descriptiondisco-interacting protein 2 homolog ADIP2 disco-interacting protein 2 homolog ADIP2 homolog Adisco-interacting protein 2ATHO complex subunit 2mental retardation, X-linked 12mental retardation, X-linked 35
Modification date2020031320200329
UniProtAcc

Q14689

.
Ensembl transtripts involved in fusion geneENST00000400274, ENST00000427143, 
ENST00000318711, ENST00000417564, 
ENST00000457905, ENST00000466639, 
ENST00000435722, ENST00000479654, 
ENST00000245838, ENST00000355725, 
ENST00000491737, ENST00000497887, 
Fusion gene scores* DoF score14 X 14 X 8=15687 X 7 X 3=147
# samples 137
** MAII scorelog2(13/1568*10)=-3.59234203108675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIP2A [Title/Abstract] AND THOC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIP2A(47879135)-THOC2(122802165), # samples:3
Anticipated loss of major functional domain due to fusion event.DIP2A-THOC2 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
HgeneDIP2A

GO:0010629

negative regulation of gene expression

20860622

TgeneTHOC2

GO:0006406

mRNA export from nucleus

17190602

TgeneTHOC2

GO:0016973

poly(A)+ mRNA export from nucleus

22928037

TgeneTHOC2

GO:0046784

viral mRNA export from host cell nucleus

18974867


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 THOC2 (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
ChimerDB4KIRCTCGA-CJ-5681-01ADIP2Achr21

47879135

+THOC2chrX

122802165

-
ChimerDB4KIRCTCGA-CJ-5681-01ADIP2Achr21

47883141

+THOC2chrX

122802165

-
ChimerDB4KIRCTCGA-CJ-5681-01ADIP2Achr21

47879135

+THOC2chrX

122802165

-
ChimerDB4KIRCTCGA-CJ-5681-01ADIP2Achr21

47879135

-THOC2chrX

122802165

-


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Fusion Gene ORF analysis for DIP2A-THOC2

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
Frame-shiftENST00000400274ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000400274ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000400274ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
5CDS-intronENST00000400274ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000427143ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000427143ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000427143ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
5CDS-intronENST00000427143ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000318711ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000318711ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000318711ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
5CDS-intronENST00000318711ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000417564ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000417564ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000417564ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
5CDS-intronENST00000417564ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000457905ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000457905ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000457905ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
5CDS-intronENST00000457905ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000466639ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000466639ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000466639ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
5CDS-intronENST00000466639ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000435722ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000435722ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
Frame-shiftENST00000435722ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
5CDS-intronENST00000435722ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
intron-3CDSENST00000479654ENST00000245838DIP2Achr21

47879135

+THOC2chrX

122802165

-
intron-3CDSENST00000479654ENST00000355725DIP2Achr21

47879135

+THOC2chrX

122802165

-
intron-3CDSENST00000479654ENST00000491737DIP2Achr21

47879135

+THOC2chrX

122802165

-
intron-intronENST00000479654ENST00000497887DIP2Achr21

47879135

+THOC2chrX

122802165

-
intron-3CDSENST00000400274ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000400274ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000400274ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000400274ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000427143ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000427143ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000427143ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000427143ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000318711ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000318711ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000318711ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000318711ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000417564ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000417564ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000417564ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000417564ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000457905ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000457905ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000457905ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000457905ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000466639ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000466639ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000466639ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000466639ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000435722ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000435722ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000435722ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000435722ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000479654ENST00000245838DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000479654ENST00000355725DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-3CDSENST00000479654ENST00000491737DIP2Achr21

47883141

+THOC2chrX

122802165

-
intron-intronENST00000479654ENST00000497887DIP2Achr21

47883141

+THOC2chrX

122802165

-

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-THOC2


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-THOC2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DIP2A

Q14689

.
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: 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.

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-THOC2


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-THOC2


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-THOC2


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-THOC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIP2AC1510586Autism Spectrum Disorders1CTD_human
TgeneTHOC2C0796218MENTAL RETARDATION, X-LINKED 122CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneTHOC2C0796242MENTAL RETARDATION, X-LINKED 351ORPHANET