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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:ITM2B-MATR3 (FusionGDB2 ID:HG9445TG9782)

Fusion Gene Summary for ITM2B-MATR3

check button Fusion gene summary
Fusion gene informationFusion gene name: ITM2B-MATR3
Fusion gene ID: hg9445tg9782
HgeneTgene
Gene symbol

ITM2B

MATR3

Gene ID

9445

9782

Gene nameintegral membrane protein 2Bmatrin 3
SynonymsABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD|RDGCA|imBRI2ALS21|MPD2|VCPDM
Cytomap('ITM2B')('MATR3')

13q14.2

5q31.2

Type of geneprotein-codingprotein-coding
Descriptionintegral membrane protein 2BABri/ADan amyloid peptideBRICHOS domain containing 2Bepididymis secretory sperm binding proteinimmature BRI2transmembrane protein BRImatrin-3vocal cord and pharyngeal weakness with distal myopathy
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000378549, ENST00000378565, 
Fusion gene scores* DoF score14 X 11 X 13=200210 X 10 X 6=600
# samples 2613
** MAII scorelog2(26/2002*10)=-2.94485844580754
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: ITM2B [Title/Abstract] AND MATR3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITM2B(48807613)-MATR3(138665034), # samples:3
Anticipated loss of major functional domain due to fusion event.ITM2B-MATR3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ITM2B-MATR3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ITM2B-MATR3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ITM2B-MATR3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ITM2B-MATR3 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
HgeneITM2B

GO:0042985

negative regulation of amyloid precursor protein biosynthetic process

16027166|18524908

TgeneMATR3

GO:0002218

activation of innate immune response

28712728

TgeneMATR3

GO:0010608

posttranscriptional regulation of gene expression

21771347


check buttonFusion gene breakpoints across ITM2B (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 MATR3 (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
* 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-13-0799-01AITM2Bchr13

48807613

-MATR3chr5

138665034

+
ChimerDB4OVTCGA-13-0799-01AITM2Bchr13

48807613

+MATR3chr5

138665034

+
ChimerDB4OVTCGA-13-0799ITM2Bchr13

48807613

+MATR3chr5

138665033

+


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Fusion Gene ORF analysis for ITM2B-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-intronENST00000378549ENST00000394805ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378549ENST00000394805ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378549ENST00000502499ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378549ENST00000502499ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378549ENST00000503811ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378549ENST00000503811ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378549ENST00000507197ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378549ENST00000507197ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378549ENST00000510056ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378549ENST00000510056ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378565ENST00000394805ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378565ENST00000394805ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378565ENST00000502499ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378565ENST00000502499ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378565ENST00000503811ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378565ENST00000503811ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378565ENST00000507197ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378565ENST00000507197ITM2Bchr13

48807613

+MATR3chr5

138665033

+
5CDS-intronENST00000378565ENST00000510056ITM2Bchr13

48807613

+MATR3chr5

138665034

+
5CDS-intronENST00000378565ENST00000510056ITM2Bchr13

48807613

+MATR3chr5

138665033

+
Frame-shiftENST00000378549ENST00000394800ITM2Bchr13

48807613

+MATR3chr5

138665034

+
Frame-shiftENST00000378549ENST00000394800ITM2Bchr13

48807613

+MATR3chr5

138665033

+
Frame-shiftENST00000378549ENST00000502929ITM2Bchr13

48807613

+MATR3chr5

138665034

+
Frame-shiftENST00000378549ENST00000502929ITM2Bchr13

48807613

+MATR3chr5

138665033

+
Frame-shiftENST00000378549ENST00000504203ITM2Bchr13

48807613

+MATR3chr5

138665034

+
Frame-shiftENST00000378549ENST00000504203ITM2Bchr13

48807613

+MATR3chr5

138665033

+
Frame-shiftENST00000378565ENST00000394800ITM2Bchr13

48807613

+MATR3chr5

138665034

+
Frame-shiftENST00000378565ENST00000394800ITM2Bchr13

48807613

+MATR3chr5

138665033

+
Frame-shiftENST00000378565ENST00000502929ITM2Bchr13

48807613

+MATR3chr5

138665034

+
Frame-shiftENST00000378565ENST00000502929ITM2Bchr13

48807613

+MATR3chr5

138665033

+
Frame-shiftENST00000378565ENST00000504203ITM2Bchr13

48807613

+MATR3chr5

138665034

+
Frame-shiftENST00000378565ENST00000504203ITM2Bchr13

48807613

+MATR3chr5

138665033

+
In-frameENST00000378549ENST00000361059ITM2Bchr13

48807613

+MATR3chr5

138665034

+
In-frameENST00000378549ENST00000361059ITM2Bchr13

48807613

+MATR3chr5

138665033

+
In-frameENST00000378549ENST00000509990ITM2Bchr13

48807613

+MATR3chr5

138665034

+
In-frameENST00000378549ENST00000509990ITM2Bchr13

48807613

+MATR3chr5

138665033

+
In-frameENST00000378565ENST00000361059ITM2Bchr13

48807613

+MATR3chr5

138665034

+
In-frameENST00000378565ENST00000361059ITM2Bchr13

48807613

+MATR3chr5

138665033

+
In-frameENST00000378565ENST00000509990ITM2Bchr13

48807613

+MATR3chr5

138665034

+
In-frameENST00000378565ENST00000509990ITM2Bchr13

48807613

+MATR3chr5

138665033

+

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)
ENST00000378565ITM2Bchr1348807613+ENST00000509990MATR3chr5138665034+3803203511117
ENST00000378565ITM2Bchr1348807613+ENST00000361059MATR3chr5138665034+14153203511117
ENST00000378549ITM2Bchr1348807613+ENST00000509990MATR3chr5138665034+3352753342111
ENST00000378549ITM2Bchr1348807613+ENST00000361059MATR3chr5138665034+13702753342111
ENST00000378565ITM2Bchr1348807613+ENST00000509990MATR3chr5138665033+3803203511117
ENST00000378565ITM2Bchr1348807613+ENST00000361059MATR3chr5138665033+14153203511117
ENST00000378549ITM2Bchr1348807613+ENST00000509990MATR3chr5138665033+3352753342111
ENST00000378549ITM2Bchr1348807613+ENST00000361059MATR3chr5138665033+13702753342111

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
ENST00000378565ENST00000509990ITM2Bchr1348807613+MATR3chr5138665034+0.116259260.8837408
ENST00000378565ENST00000361059ITM2Bchr1348807613+MATR3chr5138665034+0.17567360.82432646
ENST00000378549ENST00000509990ITM2Bchr1348807613+MATR3chr5138665034+0.078886580.9211135
ENST00000378549ENST00000361059ITM2Bchr1348807613+MATR3chr5138665034+0.131090640.86890936
ENST00000378565ENST00000509990ITM2Bchr1348807613+MATR3chr5138665033+0.116259260.8837408
ENST00000378565ENST00000361059ITM2Bchr1348807613+MATR3chr5138665033+0.17567360.82432646
ENST00000378549ENST00000509990ITM2Bchr1348807613+MATR3chr5138665033+0.078886580.9211135
ENST00000378549ENST00000361059ITM2Bchr1348807613+MATR3chr5138665033+0.131090640.86890936

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Fusion Genomic Features for ITM2B-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)
ITM2Bchr1348807613+MATR3chr5138665033+1.31E-111
ITM2Bchr1348807613+MATR3chr5138665033+1.31E-111
ITM2Bchr1348807613+MATR3chr5138665033+1.31E-111
ITM2Bchr1348807613+MATR3chr5138665033+1.31E-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.
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.
genomic feature of top 1%

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Fusion Protein Features for ITM2B-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/chr13:48807613/chr5:138665034)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneMATR3chr13:48807613chr5:138665033ENST000005038111214710_718543560.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665034ENST000005038111214710_718543560.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665033ENST000005038111214801_832543560.0Zinc fingerMatrin-type
TgeneMATR3chr13:48807613chr5:138665034ENST000005038111214801_832543560.0Zinc fingerMatrin-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITM2Bchr13:48807613chr5:138665033ENST00000378565+16137_23139267.0DomainBRICHOS
HgeneITM2Bchr13:48807613chr5:138665034ENST00000378565+16137_23139267.0DomainBRICHOS
HgeneITM2Bchr13:48807613chr5:138665033ENST00000378565+161_5439267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48807613chr5:138665033ENST00000378565+1676_26639267.0Topological domainLumenal
HgeneITM2Bchr13:48807613chr5:138665034ENST00000378565+161_5439267.0Topological domainCytoplasmic
HgeneITM2Bchr13:48807613chr5:138665034ENST00000378565+1676_26639267.0Topological domainLumenal
HgeneITM2Bchr13:48807613chr5:138665033ENST00000378565+1655_7539267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneITM2Bchr13:48807613chr5:138665034ENST00000378565+1655_7539267.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneMATR3chr13:48807613chr5:138665033ENST000003610591618398_473831848.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665033ENST000003610591618496_571831848.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665033ENST000003948051315398_473831848.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665033ENST000003948051315496_571831848.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665033ENST000005038111214398_473543560.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665033ENST000005038111214496_571543560.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665033ENST000005099901517398_473831848.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665033ENST000005099901517496_571831848.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665034ENST000003610591618398_473831848.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665034ENST000003610591618496_571831848.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665034ENST000003948051315398_473831848.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665034ENST000003948051315496_571831848.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665034ENST000005038111214398_473543560.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665034ENST000005038111214496_571543560.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665034ENST000005099901517398_473831848.0DomainRRM 1
TgeneMATR3chr13:48807613chr5:138665034ENST000005099901517496_571831848.0DomainRRM 2
TgeneMATR3chr13:48807613chr5:138665033ENST000003610591618710_718831848.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665033ENST000003948051315710_718831848.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665033ENST000005099901517710_718831848.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665034ENST000003610591618710_718831848.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665034ENST000003948051315710_718831848.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665034ENST000005099901517710_718831848.0MotifNuclear localization signal
TgeneMATR3chr13:48807613chr5:138665033ENST000003610591618801_832831848.0Zinc fingerMatrin-type
TgeneMATR3chr13:48807613chr5:138665033ENST000003948051315801_832831848.0Zinc fingerMatrin-type
TgeneMATR3chr13:48807613chr5:138665033ENST000005099901517801_832831848.0Zinc fingerMatrin-type
TgeneMATR3chr13:48807613chr5:138665034ENST000003610591618801_832831848.0Zinc fingerMatrin-type
TgeneMATR3chr13:48807613chr5:138665034ENST000003948051315801_832831848.0Zinc fingerMatrin-type
TgeneMATR3chr13:48807613chr5:138665034ENST000005099901517801_832831848.0Zinc fingerMatrin-type


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Fusion Gene Sequence for ITM2B-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.
>40623_40623_1_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665033_ENST00000361059_length(transcript)=1370nt_BP=275nt
CGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCAGCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATC
GCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCTTCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACT
CCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCGGCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACT
GCAAGAAATTTCTGAATAAATTGGCAGAAGAACGCAGACAGAAGAAGGAAACTTAAGATGTGCAAGGAGATTTAATGATTTCAAAGAAAA
TAATGGTTCTTTGTTTTTAATGTTAACCTTTTTTAAATACAATACTGATAGTTAGAAGAAAACTATTGTACTCTTTTGTTTTAGTGGAGA
AATAATAGATGTCTGTTCATGTGTTAAGTGTTATAGCAAAAAAAATACACATATGGTTAAGTTAATGAATAGTTTTTGTTTTATCAGAAT
GGCAACAGACAGAAGTACTTTGTAGAGATTGACTTCCTAAGCTACTTAAGACAACTTGCACCACTAAGAAAAAAATGTAGAACCATTTGG
AAAAATGAAATTTAGTAGTTCCAAGTTTCAAAGAAATGTCAACATTTTATTCCATTCAATAAAGAACAAAACCAATAGTGTTTTTATTAC
TTTCATCTGAAACATTCCATGTTTTAATCTGAGCCTTGCAGACTTTCATTTGGAGTTTGAACCCGTTTTGGTTGCATTTCATTTTTGGAG
AACTTAATTAACGTGAGATTGGCAATTGAAATGCAGGTGCAGTTTTCTGTTAATGTCATGCTGTTGTTTAGGTAATAAGAAATATTAAGT
AATTGGCTTTAGATTTTGTAATTTTTTTCCCTGAGTTCCTGCTAGATTTCGTATTCTAGTAGTCAATGTATTTTCAGTGAAATGCAAAAA
TATTCCCGTTATCTTTGACCAGTATTAATTTTTGAGATCTTACTGCTTGTCACTTGAATCCCGTGATTGTCATACATCTCTGGTATAAGC
AACATTTGATTTTTGAAGTGTGTAGACCATCTCTTCATATTTTCAAGATGTAATTTTACATTTCTGCATTTTTAAAACAGTTTGGCCATA
ATCCTAGATGCACGCTTCTAATTCATGTACCTGCACATGTGACCTTTGTGAACAGAAATTTGCATGTATAATTTGTGTTTACTTGTAACT
TTCTGGTTATATACTGCTTATATCTGTGGATTCAAGTTACTGAAGTGAATACCAATAAAAAGAAAACCCTAGGCCATGTTAATTGGTTAT

>40623_40623_1_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665033_ENST00000361059_length(amino acids)=111AA_BP=1
MHILSFLLLSAFFCQFIQKFLAVHRDGVGGDDERLLAALGLVLLGLLLGQSGVERHLHHGAAWGALEGRRRARGAGCGLPAAIAASTAGL

--------------------------------------------------------------
>40623_40623_2_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665033_ENST00000509990_length(transcript)=335nt_BP=275nt
CGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCAGCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATC
GCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCTTCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACT
CCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCGGCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACT

>40623_40623_2_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665033_ENST00000509990_length(amino acids)=111AA_BP=0
LHILSFLLLSAFFCQFIQKFLAVHRDGVGGDDERLLAALGLVLLGLLLGQSGVERHLHHGAAWGALEGRRRARGAGCGLPAAIAASTAGL

--------------------------------------------------------------
>40623_40623_3_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665034_ENST00000361059_length(transcript)=1370nt_BP=275nt
CGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCAGCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATC
GCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCTTCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACT
CCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCGGCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACT
GCAAGAAATTTCTGAATAAATTGGCAGAAGAACGCAGACAGAAGAAGGAAACTTAAGATGTGCAAGGAGATTTAATGATTTCAAAGAAAA
TAATGGTTCTTTGTTTTTAATGTTAACCTTTTTTAAATACAATACTGATAGTTAGAAGAAAACTATTGTACTCTTTTGTTTTAGTGGAGA
AATAATAGATGTCTGTTCATGTGTTAAGTGTTATAGCAAAAAAAATACACATATGGTTAAGTTAATGAATAGTTTTTGTTTTATCAGAAT
GGCAACAGACAGAAGTACTTTGTAGAGATTGACTTCCTAAGCTACTTAAGACAACTTGCACCACTAAGAAAAAAATGTAGAACCATTTGG
AAAAATGAAATTTAGTAGTTCCAAGTTTCAAAGAAATGTCAACATTTTATTCCATTCAATAAAGAACAAAACCAATAGTGTTTTTATTAC
TTTCATCTGAAACATTCCATGTTTTAATCTGAGCCTTGCAGACTTTCATTTGGAGTTTGAACCCGTTTTGGTTGCATTTCATTTTTGGAG
AACTTAATTAACGTGAGATTGGCAATTGAAATGCAGGTGCAGTTTTCTGTTAATGTCATGCTGTTGTTTAGGTAATAAGAAATATTAAGT
AATTGGCTTTAGATTTTGTAATTTTTTTCCCTGAGTTCCTGCTAGATTTCGTATTCTAGTAGTCAATGTATTTTCAGTGAAATGCAAAAA
TATTCCCGTTATCTTTGACCAGTATTAATTTTTGAGATCTTACTGCTTGTCACTTGAATCCCGTGATTGTCATACATCTCTGGTATAAGC
AACATTTGATTTTTGAAGTGTGTAGACCATCTCTTCATATTTTCAAGATGTAATTTTACATTTCTGCATTTTTAAAACAGTTTGGCCATA
ATCCTAGATGCACGCTTCTAATTCATGTACCTGCACATGTGACCTTTGTGAACAGAAATTTGCATGTATAATTTGTGTTTACTTGTAACT
TTCTGGTTATATACTGCTTATATCTGTGGATTCAAGTTACTGAAGTGAATACCAATAAAAAGAAAACCCTAGGCCATGTTAATTGGTTAT

>40623_40623_3_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665034_ENST00000361059_length(amino acids)=111AA_BP=1
MHILSFLLLSAFFCQFIQKFLAVHRDGVGGDDERLLAALGLVLLGLLLGQSGVERHLHHGAAWGALEGRRRARGAGCGLPAAIAASTAGL

--------------------------------------------------------------
>40623_40623_4_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665034_ENST00000509990_length(transcript)=335nt_BP=275nt
CGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCAGCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATC
GCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCTTCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACT
CCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCGGCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACT

>40623_40623_4_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378549_MATR3_chr5_138665034_ENST00000509990_length(amino acids)=111AA_BP=0
LHILSFLLLSAFFCQFIQKFLAVHRDGVGGDDERLLAALGLVLLGLLLGQSGVERHLHHGAAWGALEGRRRARGAGCGLPAAIAASTAGL

--------------------------------------------------------------
>40623_40623_5_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665033_ENST00000361059_length(transcript)=1415nt_BP=320nt
AGTCTCCGCCCTCGCGCGGGAGCTGGGAGGCTGCGAGATCCCTACCGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCA
GCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATCGCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCT
TCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACTCCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCG
GCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACTGCAAGAAATTTCTGAATAAATTGGCAGAAGAACGCAGACAGAAGA
AGGAAACTTAAGATGTGCAAGGAGATTTAATGATTTCAAAGAAAATAATGGTTCTTTGTTTTTAATGTTAACCTTTTTTAAATACAATAC
TGATAGTTAGAAGAAAACTATTGTACTCTTTTGTTTTAGTGGAGAAATAATAGATGTCTGTTCATGTGTTAAGTGTTATAGCAAAAAAAA
TACACATATGGTTAAGTTAATGAATAGTTTTTGTTTTATCAGAATGGCAACAGACAGAAGTACTTTGTAGAGATTGACTTCCTAAGCTAC
TTAAGACAACTTGCACCACTAAGAAAAAAATGTAGAACCATTTGGAAAAATGAAATTTAGTAGTTCCAAGTTTCAAAGAAATGTCAACAT
TTTATTCCATTCAATAAAGAACAAAACCAATAGTGTTTTTATTACTTTCATCTGAAACATTCCATGTTTTAATCTGAGCCTTGCAGACTT
TCATTTGGAGTTTGAACCCGTTTTGGTTGCATTTCATTTTTGGAGAACTTAATTAACGTGAGATTGGCAATTGAAATGCAGGTGCAGTTT
TCTGTTAATGTCATGCTGTTGTTTAGGTAATAAGAAATATTAAGTAATTGGCTTTAGATTTTGTAATTTTTTTCCCTGAGTTCCTGCTAG
ATTTCGTATTCTAGTAGTCAATGTATTTTCAGTGAAATGCAAAAATATTCCCGTTATCTTTGACCAGTATTAATTTTTGAGATCTTACTG
CTTGTCACTTGAATCCCGTGATTGTCATACATCTCTGGTATAAGCAACATTTGATTTTTGAAGTGTGTAGACCATCTCTTCATATTTTCA
AGATGTAATTTTACATTTCTGCATTTTTAAAACAGTTTGGCCATAATCCTAGATGCACGCTTCTAATTCATGTACCTGCACATGTGACCT
TTGTGAACAGAAATTTGCATGTATAATTTGTGTTTACTTGTAACTTTCTGGTTATATACTGCTTATATCTGTGGATTCAAGTTACTGAAG

>40623_40623_5_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665033_ENST00000361059_length(amino acids)=117AA_BP=
MRSSANLFRNFLQSTATASGGMMSASSPLLGSSFLASFWARAELNVTFTMARPGAPSKGGGGLGARAAGSRLRLQPLRPGSGSGSGRLKR

--------------------------------------------------------------
>40623_40623_6_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665033_ENST00000509990_length(transcript)=380nt_BP=320nt
AGTCTCCGCCCTCGCGCGGGAGCTGGGAGGCTGCGAGATCCCTACCGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCA
GCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATCGCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCT
TCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACTCCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCG
GCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACTGCAAGAAATTTCTGAATAAATTGGCAGAAGAACGCAGACAGAAGA

>40623_40623_6_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665033_ENST00000509990_length(amino acids)=117AA_BP=
MRSSANLFRNFLQSTATASGGMMSASSPLLGSSFLASFWARAELNVTFTMARPGAPSKGGGGLGARAAGSRLRLQPLRPGSGSGSGRLKR

--------------------------------------------------------------
>40623_40623_7_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665034_ENST00000361059_length(transcript)=1415nt_BP=320nt
AGTCTCCGCCCTCGCGCGGGAGCTGGGAGGCTGCGAGATCCCTACCGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCA
GCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATCGCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCT
TCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACTCCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCG
GCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACTGCAAGAAATTTCTGAATAAATTGGCAGAAGAACGCAGACAGAAGA
AGGAAACTTAAGATGTGCAAGGAGATTTAATGATTTCAAAGAAAATAATGGTTCTTTGTTTTTAATGTTAACCTTTTTTAAATACAATAC
TGATAGTTAGAAGAAAACTATTGTACTCTTTTGTTTTAGTGGAGAAATAATAGATGTCTGTTCATGTGTTAAGTGTTATAGCAAAAAAAA
TACACATATGGTTAAGTTAATGAATAGTTTTTGTTTTATCAGAATGGCAACAGACAGAAGTACTTTGTAGAGATTGACTTCCTAAGCTAC
TTAAGACAACTTGCACCACTAAGAAAAAAATGTAGAACCATTTGGAAAAATGAAATTTAGTAGTTCCAAGTTTCAAAGAAATGTCAACAT
TTTATTCCATTCAATAAAGAACAAAACCAATAGTGTTTTTATTACTTTCATCTGAAACATTCCATGTTTTAATCTGAGCCTTGCAGACTT
TCATTTGGAGTTTGAACCCGTTTTGGTTGCATTTCATTTTTGGAGAACTTAATTAACGTGAGATTGGCAATTGAAATGCAGGTGCAGTTT
TCTGTTAATGTCATGCTGTTGTTTAGGTAATAAGAAATATTAAGTAATTGGCTTTAGATTTTGTAATTTTTTTCCCTGAGTTCCTGCTAG
ATTTCGTATTCTAGTAGTCAATGTATTTTCAGTGAAATGCAAAAATATTCCCGTTATCTTTGACCAGTATTAATTTTTGAGATCTTACTG
CTTGTCACTTGAATCCCGTGATTGTCATACATCTCTGGTATAAGCAACATTTGATTTTTGAAGTGTGTAGACCATCTCTTCATATTTTCA
AGATGTAATTTTACATTTCTGCATTTTTAAAACAGTTTGGCCATAATCCTAGATGCACGCTTCTAATTCATGTACCTGCACATGTGACCT
TTGTGAACAGAAATTTGCATGTATAATTTGTGTTTACTTGTAACTTTCTGGTTATATACTGCTTATATCTGTGGATTCAAGTTACTGAAG

>40623_40623_7_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665034_ENST00000361059_length(amino acids)=117AA_BP=
MRSSANLFRNFLQSTATASGGMMSASSPLLGSSFLASFWARAELNVTFTMARPGAPSKGGGGLGARAAGSRLRLQPLRPGSGSGSGRLKR

--------------------------------------------------------------
>40623_40623_8_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665034_ENST00000509990_length(transcript)=380nt_BP=320nt
AGTCTCCGCCCTCGCGCGGGAGCTGGGAGGCTGCGAGATCCCTACCGCAGTAGCCGCCTCTGCCGCCGCGGAGCTTCCCGAACCTCTTCA
GCCGCCCGGAGCCGCTCCCGGAGCCCGGCCGTAGAGGCTGCAATCGCAGCCGGGAGCCCGCAGCCCGCGCCCCGAGCCCGCCGCCGCCCT
TCGAGGGCGCCCCAGGCCGCGCCATGGTGAAGGTGACGTTCAACTCCGCTCTGGCCCAGAAGGAGGCCAAGAAGGACGAGCCCAAGAGCG
GCGAGGAGGCGCTCATCATCCCCCCCGACGCCGTCGCGGTGGACTGCAAGAAATTTCTGAATAAATTGGCAGAAGAACGCAGACAGAAGA

>40623_40623_8_ITM2B-MATR3_ITM2B_chr13_48807613_ENST00000378565_MATR3_chr5_138665034_ENST00000509990_length(amino acids)=117AA_BP=
MRSSANLFRNFLQSTATASGGMMSASSPLLGSSFLASFWARAELNVTFTMARPGAPSKGGGGLGARAAGSRLRLQPLRPGSGSGSGRLKR

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ITM2B-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 ITM2B-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 ITM2B-MATR3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITM2BC1867773CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 12CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneITM2BC0020538Hypertensive disease1CTD_human
HgeneITM2BC0038454Cerebrovascular accident1GENOMICS_ENGLAND
HgeneITM2BC0270790Quadriparesis1GENOMICS_ENGLAND
HgeneITM2BC0553692Brain hemorrhage1GENOMICS_ENGLAND
HgeneITM2BC0575059Spastic tetraparesis1GENOMICS_ENGLAND
HgeneITM2BC0948008Ischemic stroke1GENOMICS_ENGLAND
HgeneITM2BC1861735Dementia, familial Danish1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneITM2BC4015146RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES1CTD_human;ORPHANET;UNIPROT
TgeneC3807521AMYOTROPHIC LATERAL SCLEROSIS 215GENOMICS_ENGLAND;UNIPROT
TgeneC0002736Amyotrophic Lateral Sclerosis2GENOMICS_ENGLAND;ORPHANET
TgeneC2678065Myofibrillar Myopathy1GENOMICS_ENGLAND