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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:BCAT2-BCAT2 (FusionGDB2 ID:9283)

Fusion Gene Summary for BCAT2-BCAT2

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAT2-BCAT2
Fusion gene ID: 9283
HgeneTgene
Gene symbol

BCAT2

BCAT2

Gene ID

587

587

Gene namebranched chain amino acid transaminase 2branched chain amino acid transaminase 2
SynonymsBCAM|BCATM|BCT2|PP18BCAM|BCATM|BCT2|PP18
Cytomap

19q13.33

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionbranched-chain-amino-acid aminotransferase, mitochondrialbranched chain amino-acid transaminase 2, mitochondrialbranched chain aminotransferase 2, mitochondrialplacental protein 18branched-chain-amino-acid aminotransferase, mitochondrialbranched chain amino-acid transaminase 2, mitochondrialbranched chain aminotransferase 2, mitochondrialplacental protein 18
Modification date2020031320200313
UniProtAcc

O15382

O15382

Ensembl transtripts involved in fusion geneENST00000316273, ENST00000402551, 
ENST00000545387, ENST00000597011, 
ENST00000598162, ENST00000599246, 
ENST00000601496, 		ENST00000316273, 
ENST00000402551, ENST00000545387, 
ENST00000597011, ENST00000598162, 
ENST00000599246, ENST00000601496, 
Fusion gene scores* DoF score10 X 9 X 9=8103 X 3 X 3=27
# samples 113
** MAII scorelog2(11/810*10)=-2.88041838424733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCAT2 [Title/Abstract] AND BCAT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCAT2(49298554)-BCAT2(49298614), # 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

check buttonFusion gene breakpoints across BCAT2 (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 BCAT2 (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/AAA524930BCAT2chr19

49298554

-BCAT2chr19

49298614

+


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Fusion Gene ORF analysis for BCAT2-BCAT2

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-3UTRENST00000316273ENST00000316273BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000316273ENST00000402551BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000316273ENST00000545387BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000316273ENST00000597011BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000402551ENST00000316273BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000402551ENST00000402551BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000402551ENST00000545387BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000402551ENST00000597011BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000545387ENST00000316273BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000545387ENST00000402551BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000545387ENST00000545387BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000545387ENST00000597011BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000597011ENST00000316273BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000597011ENST00000402551BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000597011ENST00000545387BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000597011ENST00000597011BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000598162ENST00000316273BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000598162ENST00000402551BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000598162ENST00000545387BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000598162ENST00000597011BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000599246ENST00000316273BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000599246ENST00000402551BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000599246ENST00000545387BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000599246ENST00000597011BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000601496ENST00000316273BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000601496ENST00000402551BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000601496ENST00000545387BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-3UTRENST00000601496ENST00000597011BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000316273ENST00000598162BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000316273ENST00000599246BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000316273ENST00000601496BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000402551ENST00000598162BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000402551ENST00000599246BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000402551ENST00000601496BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000545387ENST00000598162BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000545387ENST00000599246BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000545387ENST00000601496BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000597011ENST00000598162BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000597011ENST00000599246BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000597011ENST00000601496BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000598162ENST00000598162BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000598162ENST00000599246BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000598162ENST00000601496BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000599246ENST00000598162BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000599246ENST00000599246BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000599246ENST00000601496BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000601496ENST00000598162BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000601496ENST00000599246BCAT2chr19

49298554

-BCAT2chr19

49298614

+
intron-intronENST00000601496ENST00000601496BCAT2chr19

49298554

-BCAT2chr19

49298614

+

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 BCAT2-BCAT2


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 BCAT2-BCAT2


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/:49298554/:49298614)
- 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
BCAT2

O15382

BCAT2

O15382

FUNCTION: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.FUNCTION: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.

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 BCAT2-BCAT2


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 BCAT2-BCAT2


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 BCAT2-BCAT2


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 BCAT2-BCAT2


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