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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:ANKHD1-MATR3 (FusionGDB2 ID:4453)

Fusion Gene Summary for ANKHD1-MATR3

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKHD1-MATR3
Fusion gene ID: 4453
HgeneTgene
Gene symbol

ANKHD1

MATR3

Gene ID

54882

9782

Gene nameankyrin repeat and KH domain containing 1matrin 3
SynonymsMASK|MASK1|PP2500|VBARPALS21|MPD2|VCPDM
Cytomap

5q31.3

5q31.2

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homologmatrin-3vocal cord and pharyngeal weakness with distal myopathy
Modification date2020031320200315
UniProtAcc

Q8IWZ3

P43243

Ensembl transtripts involved in fusion geneENST00000297183, ENST00000360839, 
ENST00000394722, ENST00000394723, 
ENST00000462121, ENST00000544120, 
ENST00000361059, ENST00000394800, 
ENST00000394805, ENST00000502929, 
ENST00000509990, ENST00000510056, 
ENST00000502499, ENST00000503811, 
ENST00000504203, ENST00000507197, 
Fusion gene scores* DoF score29 X 9 X 8=208810 X 10 X 6=600
# samples 1413
** MAII scorelog2(14/2088*10)=-3.89862297962492
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/600*10)=-2.20645087746743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKHD1 [Title/Abstract] AND MATR3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKHD1(139866645)-MATR3(138642928), # 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
TgeneMATR3

GO:0002218

activation of innate immune response

28712728

TgeneMATR3

GO:0010608

posttranscriptional regulation of gene expression

21771347


check buttonFusion gene breakpoints across ANKHD1 (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 MATR3 (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-AR-A0U4-01AANKHD1chr5

139866645

+MATR3chr5

138642928

+


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Fusion Gene ORF analysis for ANKHD1-MATR3

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-5UTRENST00000297183ENST00000361059ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000297183ENST00000394800ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000297183ENST00000394805ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000297183ENST00000502929ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000297183ENST00000509990ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000297183ENST00000510056ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000360839ENST00000361059ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000360839ENST00000394800ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000360839ENST00000394805ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000360839ENST00000502929ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000360839ENST00000509990ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-5UTRENST00000360839ENST00000510056ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000297183ENST00000502499ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000297183ENST00000503811ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000297183ENST00000504203ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000297183ENST00000507197ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000360839ENST00000502499ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000360839ENST00000503811ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000360839ENST00000504203ANKHD1chr5

139866645

+MATR3chr5

138642928

+
5CDS-intronENST00000360839ENST00000507197ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394722ENST00000361059ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394722ENST00000394800ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394722ENST00000394805ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394722ENST00000502929ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394722ENST00000509990ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394722ENST00000510056ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394723ENST00000361059ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394723ENST00000394800ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394723ENST00000394805ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394723ENST00000502929ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394723ENST00000509990ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000394723ENST00000510056ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000462121ENST00000361059ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000462121ENST00000394800ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000462121ENST00000394805ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000462121ENST00000502929ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000462121ENST00000509990ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000462121ENST00000510056ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000544120ENST00000361059ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000544120ENST00000394800ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000544120ENST00000394805ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000544120ENST00000502929ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000544120ENST00000509990ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-5UTRENST00000544120ENST00000510056ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394722ENST00000502499ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394722ENST00000503811ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394722ENST00000504203ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394722ENST00000507197ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394723ENST00000502499ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394723ENST00000503811ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394723ENST00000504203ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000394723ENST00000507197ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000462121ENST00000502499ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000462121ENST00000503811ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000462121ENST00000504203ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000462121ENST00000507197ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000544120ENST00000502499ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000544120ENST00000503811ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000544120ENST00000504203ANKHD1chr5

139866645

+MATR3chr5

138642928

+
intron-intronENST00000544120ENST00000507197ANKHD1chr5

139866645

+MATR3chr5

138642928

+

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 ANKHD1-MATR3


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)
ANKHD1chr5139866645+MATR3chr5138642927+7.21E-060.99999285
ANKHD1chr5139866645+MATR3chr5138642927+7.21E-060.99999285

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 ANKHD1-MATR3


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/:139866645/:138642928)
- 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
ANKHD1

Q8IWZ3

MATR3

P43243

FUNCTION: May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. {ECO:0000269|PubMed:16098192}.FUNCTION: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). May bind to specific miRNA hairpins (PubMed:28431233). {ECO:0000269|PubMed:11525732, ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:28712728}.

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 ANKHD1-MATR3


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 ANKHD1-MATR3


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 ANKHD1-MATR3


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 ANKHD1-MATR3


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