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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:BCAP31-BCAP31 (FusionGDB2 ID:9226)

Fusion Gene Summary for BCAP31-BCAP31

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAP31-BCAP31
Fusion gene ID: 9226
HgeneTgene
Gene symbol

BCAP31

BCAP31

Gene ID

10134

10134

Gene nameB cell receptor associated protein 31B cell receptor associated protein 31
Synonyms6C6-AG|BAP31|CDM|DDCH|DXS1357E6C6-AG|BAP31|CDM|DDCH|DXS1357E
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
DescriptionB-cell receptor-associated protein 316C6-AG tumor-associated antigenBCR-associated protein Bap31p28 Bap31B-cell receptor-associated protein 316C6-AG tumor-associated antigenBCR-associated protein Bap31p28 Bap31
Modification date2020031320200313
UniProtAcc

P51572

P51572

Ensembl transtripts involved in fusion geneENST00000441714, ENST00000345046, 
ENST00000458587, ENST00000468947, 
ENST00000441714, ENST00000345046, 
ENST00000458587, ENST00000468947, 
Fusion gene scores* DoF score6 X 8 X 4=1925 X 7 X 3=105
# samples 97
** MAII scorelog2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCAP31 [Title/Abstract] AND BCAP31 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCAP31(152989823)-BCAP31(152969451), # samples:1
BCAP31(152967523)-BCAP31(152966343), # samples:1
BCAP31(152966233)-BCAP31(152989839), # 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
HgeneBCAP31

GO:1904154

positive regulation of retrograde protein transport, ER to cytosol

18555783

TgeneBCAP31

GO:1904154

positive regulation of retrograde protein transport, ER to cytosol

18555783


check buttonFusion gene breakpoints across BCAP31 (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 BCAP31 (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/ABE077216BCAP31chrX

152989823

+BCAP31chrX

152969451

+
ChiTaRS5.0N/ABE742553BCAP31chrX

152967523

+BCAP31chrX

152966343

-
ChiTaRS5.0N/ABF934379BCAP31chrX

152966233

+BCAP31chrX

152989839

-


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Fusion Gene ORF analysis for BCAP31-BCAP31

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-3CDSENST00000441714ENST00000441714BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000441714ENST00000345046BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000441714ENST00000458587BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-intronENST00000441714ENST00000468947BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000345046ENST00000441714BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000345046ENST00000345046BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000345046ENST00000458587BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-intronENST00000345046ENST00000468947BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000458587ENST00000441714BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000458587ENST00000345046BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000458587ENST00000458587BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-intronENST00000458587ENST00000468947BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000468947ENST00000441714BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000468947ENST00000345046BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3CDSENST00000468947ENST00000458587BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-intronENST00000468947ENST00000468947BCAP31chrX

152989823

+BCAP31chrX

152969451

+
intron-3UTRENST00000441714ENST00000441714BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000441714ENST00000345046BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000441714ENST00000458587BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-intronENST00000441714ENST00000468947BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000345046ENST00000441714BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000345046ENST00000345046BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000345046ENST00000458587BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-intronENST00000345046ENST00000468947BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000458587ENST00000441714BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000458587ENST00000345046BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000458587ENST00000458587BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-intronENST00000458587ENST00000468947BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000468947ENST00000441714BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000468947ENST00000345046BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3UTRENST00000468947ENST00000458587BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-intronENST00000468947ENST00000468947BCAP31chrX

152967523

+BCAP31chrX

152966343

-
intron-3CDSENST00000441714ENST00000441714BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-5UTRENST00000441714ENST00000345046BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000441714ENST00000458587BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000441714ENST00000468947BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-3CDSENST00000345046ENST00000441714BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-5UTRENST00000345046ENST00000345046BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000345046ENST00000458587BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000345046ENST00000468947BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-3CDSENST00000458587ENST00000441714BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-5UTRENST00000458587ENST00000345046BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000458587ENST00000458587BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000458587ENST00000468947BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-3CDSENST00000468947ENST00000441714BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-5UTRENST00000468947ENST00000345046BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000468947ENST00000458587BCAP31chrX

152966233

+BCAP31chrX

152989839

-
intron-intronENST00000468947ENST00000468947BCAP31chrX

152966233

+BCAP31chrX

152989839

-

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 BCAP31-BCAP31


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 BCAP31-BCAP31


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
BCAP31

P51572

BCAP31

P51572

FUNCTION: Functions as a chaperone protein (PubMed:9396746, PubMed:18287538). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:9396746, PubMed:18287538). Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD) (PubMed:9396746, PubMed:18287538). Also serves as a cargo receptor for the export of transmembrane proteins (By similarity). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by stimulating the translocation of NDUFS4 and NDUFB11 from the cytosol to the mitochondria via interaction with TOMM40 (PubMed:31206022). In response to ER stress, delocalizes from the ER-mitochondria contact sites and binds BCL2 (PubMed:31206022). May be involved in CASP8-mediated apoptosis (PubMed:10958671). {ECO:0000250|UniProtKB:Q61335, ECO:0000269|PubMed:10958671, ECO:0000269|PubMed:18287538, ECO:0000269|PubMed:31206022, ECO:0000269|PubMed:9396746}.FUNCTION: Functions as a chaperone protein (PubMed:9396746, PubMed:18287538). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:9396746, PubMed:18287538). Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD) (PubMed:9396746, PubMed:18287538). Also serves as a cargo receptor for the export of transmembrane proteins (By similarity). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by stimulating the translocation of NDUFS4 and NDUFB11 from the cytosol to the mitochondria via interaction with TOMM40 (PubMed:31206022). In response to ER stress, delocalizes from the ER-mitochondria contact sites and binds BCL2 (PubMed:31206022). May be involved in CASP8-mediated apoptosis (PubMed:10958671). {ECO:0000250|UniProtKB:Q61335, ECO:0000269|PubMed:10958671, ECO:0000269|PubMed:18287538, ECO:0000269|PubMed:31206022, ECO:0000269|PubMed:9396746}.

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 BCAP31-BCAP31


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 BCAP31-BCAP31


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 BCAP31-BCAP31


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 BCAP31-BCAP31


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCAP31C1845408Contiguous Abcd1-Dxs1375e Deletion Syndrome2CTD_human;ORPHANET
HgeneBCAP31C3806634DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION1GENOMICS_ENGLAND;ORPHANET
TgeneBCAP31C1845408Contiguous Abcd1-Dxs1375e Deletion Syndrome2CTD_human;ORPHANET
TgeneBCAP31C3806634DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION1GENOMICS_ENGLAND;ORPHANET