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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:BCR-MRVI1 (FusionGDB2 ID:9580)

Fusion Gene Summary for BCR-MRVI1

check button Fusion gene summary
Fusion gene informationFusion gene name: BCR-MRVI1
Fusion gene ID: 9580
HgeneTgene
Gene symbol

BCR

MRVI1

Gene ID

613

10335

Gene nameBCR activator of RhoGEF and GTPaseinositol 1,4,5-triphosphate receptor associated 1
SynonymsALL|BCR1|CML|D22S11|D22S662|PHLIRAG|JAW1L|MRVI1
Cytomap

22q11.23

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionbreakpoint cluster region proteinBCR, RhoGEF and GTPase activating proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26protein MRVI1IP3R-associated cGMP kinase substrateJAW1-related protein MRVI1inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrateinositol 1,4,5-trisphosphate receptor-associated cGMP kinase substratemurine retrovirus integration site
Modification date2020031320200313
UniProtAcc

P11274

.
Ensembl transtripts involved in fusion geneENST00000305877, ENST00000359540, 
ENST00000398512, ENST00000436990, 
ENST00000424001, ENST00000436272, 
ENST00000545852, ENST00000421747, 
ENST00000552103, ENST00000547195, 
ENST00000423302, ENST00000558540, 
ENST00000541483, ENST00000531107, 
ENST00000527509, ENST00000534266, 
ENST00000532037, 
Fusion gene scores* DoF score22 X 142 X 16=499845 X 6 X 3=90
# samples 1635
** MAII scorelog2(163/49984*10)=-4.93852248902354
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/90*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCR [Title/Abstract] AND MRVI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCR(23524426)-MRVI1(10673729), # samples:3
Anticipated loss of major functional domain due to fusion event.BCR-MRVI1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
BCR-MRVI1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BCR-MRVI1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BCR-MRVI1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BCR-MRVI1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneBCR

GO:0090630

activation of GTPase activity

7479768


check buttonFusion gene breakpoints across BCR (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 MRVI1 (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-C8-A12Q-01ABCRchr22

23524426

+MRVI1chr11

10673729

-
ChimerDB4BRCATCGA-C8-A12Q-01ABCRchr22

23524426

+MRVI1chr11

10673729

-
ChimerDB4BRCATCGA-C8-A12Q-01ABCRchr22

23524426

+MRVI1chr11

10651258

-
ChimerDB4BRCATCGA-C8-A12Q-01ABCRchr22

23524426

-MRVI1chr11

10673729

-


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Fusion Gene ORF analysis for BCR-MRVI1

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-shiftENST00000305877ENST00000424001BCRchr22

23524426

+MRVI1chr11

10673729

-
Frame-shiftENST00000305877ENST00000436272BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000545852BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000421747BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000552103BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000305877ENST00000547195BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000305877ENST00000423302BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000558540BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000541483BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000531107BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000305877ENST00000527509BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000534266BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000532037BCRchr22

23524426

+MRVI1chr11

10673729

-
Frame-shiftENST00000359540ENST00000424001BCRchr22

23524426

+MRVI1chr11

10673729

-
Frame-shiftENST00000359540ENST00000436272BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000545852BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000421747BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000552103BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000359540ENST00000547195BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000359540ENST00000423302BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000558540BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000541483BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000531107BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000359540ENST00000527509BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000534266BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000359540ENST00000532037BCRchr22

23524426

+MRVI1chr11

10673729

-
Frame-shiftENST00000398512ENST00000424001BCRchr22

23524426

+MRVI1chr11

10673729

-
Frame-shiftENST00000398512ENST00000436272BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000545852BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000421747BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000552103BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000398512ENST00000547195BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000398512ENST00000423302BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000558540BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000541483BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000531107BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-intronENST00000398512ENST00000527509BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000534266BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000398512ENST00000532037BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-3CDSENST00000436990ENST00000424001BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-3CDSENST00000436990ENST00000436272BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000545852BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000421747BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000552103BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-intronENST00000436990ENST00000547195BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-intronENST00000436990ENST00000423302BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000558540BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000541483BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000531107BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-intronENST00000436990ENST00000527509BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000534266BCRchr22

23524426

+MRVI1chr11

10673729

-
intron-5UTRENST00000436990ENST00000532037BCRchr22

23524426

+MRVI1chr11

10673729

-
5CDS-5UTRENST00000305877ENST00000424001BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000436272BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000545852BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000421747BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000552103BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000547195BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000423302BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000558540BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000541483BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000531107BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000527509BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000534266BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000305877ENST00000532037BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000424001BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000436272BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000545852BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000421747BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000552103BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000547195BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000423302BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000558540BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000541483BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000531107BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000527509BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000534266BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000359540ENST00000532037BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000424001BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000436272BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000545852BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000421747BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000552103BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000547195BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000423302BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000558540BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000541483BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000531107BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000527509BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000534266BCRchr22

23524426

+MRVI1chr11

10651258

-
5CDS-5UTRENST00000398512ENST00000532037BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000424001BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000436272BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000545852BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000421747BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000552103BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000547195BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000423302BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000558540BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000541483BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000531107BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000527509BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000534266BCRchr22

23524426

+MRVI1chr11

10651258

-
intron-5UTRENST00000436990ENST00000532037BCRchr22

23524426

+MRVI1chr11

10651258

-

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 BCR-MRVI1


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 BCR-MRVI1


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
BCR

P11274

.
FUNCTION: Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:1903516, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768, PubMed:23940119). The amino terminus contains an intrinsic kinase activity (PubMed:1657398). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity (PubMed:17116687). Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation (PubMed:23940119). {ECO:0000250|UniProtKB:Q6PAJ1, ECO:0000269|PubMed:1657398, ECO:0000269|PubMed:17116687, ECO:0000269|PubMed:1903516, ECO:0000269|PubMed:23940119, ECO:0000269|PubMed:7479768}.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 BCR-MRVI1


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 BCR-MRVI1


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 BCR-MRVI1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBCRP11274DB00619ImatinibInhibitorSmall moleculeApproved
HgeneBCRP11274DB00619ImatinibInhibitorSmall moleculeApproved
HgeneBCRP11274DB00619ImatinibInhibitorSmall moleculeApproved
HgeneBCRP11274DB06616BosutinibInhibitorSmall moleculeApproved
HgeneBCRP11274DB06616BosutinibInhibitorSmall moleculeApproved
HgeneBCRP11274DB06616BosutinibInhibitorSmall moleculeApproved
HgeneBCRP11274DB01254DasatinibSmall moleculeApproved|Investigational
HgeneBCRP11274DB01254DasatinibSmall moleculeApproved|Investigational
HgeneBCRP11274DB01254DasatinibSmall moleculeApproved|Investigational
HgeneBCRP11274DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneBCRP11274DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneBCRP11274DB08901PonatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for BCR-MRVI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCRC0005586Bipolar Disorder4PSYGENET
HgeneBCRC0023473Myeloid Leukemia, Chronic3CTD_human;ORPHANET
HgeneBCRC0005699Blast Phase1CTD_human
HgeneBCRC0006413Burkitt Lymphoma1ORPHANET
HgeneBCRC0023893Liver Cirrhosis, Experimental1CTD_human
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