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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:BAX-VAV2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BAX-VAV2
FusionPDB ID: 9003
FusionGDB2.0 ID: 9003
HgeneTgene
Gene symbol

BAX

VAV2

Gene ID

581

7410

Gene nameBCL2 associated X, apoptosis regulatorvav guanine nucleotide exchange factor 2
SynonymsBCL2L4VAV-2
Cytomap

19q13.33

9q34.2

Type of geneprotein-codingprotein-coding
Descriptionapoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4guanine nucleotide exchange factor VAV2vav 2 oncogene
Modification date2020032220200313
UniProtAcc

TMBIM6

.
Ensembl transtripts involved in fusion geneENST idsENST00000391871, ENST00000539787, 
ENST00000293288, ENST00000345358, 
ENST00000354470, ENST00000415969, 
ENST00000371850, ENST00000371851, 
ENST00000406606, ENST00000486113, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 5=15011 X 10 X 5=550
# samples 712
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/550*10)=-2.1963972128035
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BAX [Title/Abstract] AND VAV2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BAX(49464171)-VAV2(136629231), # samples:3
Anticipated loss of major functional domain due to fusion event.BAX-VAV2 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.
BAX-VAV2 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.
BAX-VAV2 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.
BAX-VAV2 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.
BAX-VAV2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BAX-VAV2 seems lost the major protein functional domain in Hgene 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
HgeneBAX

GO:0001783

B cell apoptotic process

15214043|16424160

HgeneBAX

GO:0001836

release of cytochrome c from mitochondria

9843949|16199525|17052454

HgeneBAX

GO:0006915

apoptotic process

9660918

HgeneBAX

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

11912183

HgeneBAX

GO:0008053

mitochondrial fusion

14769861

HgeneBAX

GO:0008635

activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c

15214043

HgeneBAX

GO:0008637

apoptotic mitochondrial changes

9843949

HgeneBAX

GO:0009636

response to toxic substance

16307838

HgeneBAX

GO:0010248

establishment or maintenance of transmembrane electrochemical gradient

9843949

HgeneBAX

GO:0010917

negative regulation of mitochondrial membrane potential

16751333

HgeneBAX

GO:0031334

positive regulation of protein complex assembly

9111042|19805544

HgeneBAX

GO:0032091

negative regulation of protein binding

9388232

HgeneBAX

GO:0032976

release of matrix enzymes from mitochondria

9843949

HgeneBAX

GO:0043065

positive regulation of apoptotic process

16751333|17464193

HgeneBAX

GO:0043525

positive regulation of neuron apoptotic process

15637643

HgeneBAX

GO:0043653

mitochondrial fragmentation involved in apoptotic process

12499352

HgeneBAX

GO:0051881

regulation of mitochondrial membrane potential

9843949

HgeneBAX

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

HgeneBAX

GO:0097190

apoptotic signaling pathway

16424160

HgeneBAX

GO:0097191

extrinsic apoptotic signaling pathway

15214043

HgeneBAX

GO:0097193

intrinsic apoptotic signaling pathway

9219694|16462759

HgeneBAX

GO:1990117

B cell receptor apoptotic signaling pathway

15214043


check buttonFusion gene breakpoints across BAX (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 VAV2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LIHCTCGA-DD-A73A-01ABAXchr19

49464171

-VAV2chr9

136629231

-
ChimerDB4LIHCTCGA-DD-A73A-01ABAXchr19

49464171

+VAV2chr9

136629231

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000345358BAXchr1949464171+ENST00000371850VAV2chr9136629231-27425261573190
ENST00000345358BAXchr1949464171+ENST00000371851VAV2chr9136629231-27425261573190
ENST00000415969BAXchr1949464171+ENST00000371850VAV2chr9136629231-26904740521173
ENST00000415969BAXchr1949464171+ENST00000371851VAV2chr9136629231-26904740521173
ENST00000354470BAXchr1949464171+ENST00000371850VAV2chr9136629231-254332719781496160
ENST00000354470BAXchr1949464171+ENST00000371851VAV2chr9136629231-254332719781496160
ENST00000293288BAXchr1949464171+ENST00000406606VAV2chr9136629231-346912530551183

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
ENST00000345358ENST00000371850BAXchr1949464171+VAV2chr9136629231-0.0166004860.98339945
ENST00000345358ENST00000371851BAXchr1949464171+VAV2chr9136629231-0.0166004860.98339945
ENST00000415969ENST00000371850BAXchr1949464171+VAV2chr9136629231-0.0204195040.97958046
ENST00000415969ENST00000371851BAXchr1949464171+VAV2chr9136629231-0.0204195040.97958046
ENST00000354470ENST00000371850BAXchr1949464171+VAV2chr9136629231-0.281305340.7186946
ENST00000354470ENST00000371851BAXchr1949464171+VAV2chr9136629231-0.281305340.7186946
ENST00000293288ENST00000406606BAXchr1949464171+VAV2chr9136629231-0.34604370.6539563

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>9003_9003_1_BAX-VAV2_BAX_chr19_49464171_ENST00000293288_VAV2_chr9_136629231_ENST00000406606_length(amino acids)=183AA_BP=
MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLSECLKRIGDELDSNMELQRMIAAVDTDSPRE
VFFRVAADMFSDGNFNWGRVVALFYFASKLVLKVRLLKPPHPHHRALTTAPAPPSLPPATPLGPWAFWSRSQWCPLPIFRSSDVVYNAFS

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

>9003_9003_2_BAX-VAV2_BAX_chr19_49464171_ENST00000345358_VAV2_chr9_136629231_ENST00000371850_length(amino acids)=190AA_BP=175
LRPPARTRREAAAGAAVMDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLSECLKRIGDELDSN
MELQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKLVLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGWIGWFP

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

>9003_9003_3_BAX-VAV2_BAX_chr19_49464171_ENST00000345358_VAV2_chr9_136629231_ENST00000371851_length(amino acids)=190AA_BP=175
LRPPARTRREAAAGAAVMDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLSECLKRIGDELDSN
MELQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKLVLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGWIGWFP

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

>9003_9003_4_BAX-VAV2_BAX_chr19_49464171_ENST00000354470_VAV2_chr9_136629231_ENST00000371850_length(amino acids)=160AA_BP=
MTTVNTGAAGFLPAILRACWAAGRKVLGVPRHGGPRVLSPRLTLRFPCPASTSPHFPSLCRGPLSPPAAPHPHDSSRLFPTPQRHTAQRP

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

>9003_9003_5_BAX-VAV2_BAX_chr19_49464171_ENST00000354470_VAV2_chr9_136629231_ENST00000371851_length(amino acids)=160AA_BP=
MTTVNTGAAGFLPAILRACWAAGRKVLGVPRHGGPRVLSPRLTLRFPCPASTSPHFPSLCRGPLSPPAAPHPHDSSRLFPTPQRHTAQRP

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

>9003_9003_6_BAX-VAV2_BAX_chr19_49464171_ENST00000415969_VAV2_chr9_136629231_ENST00000371850_length(amino acids)=173AA_BP=158
MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLSECLKRIGDELDSNMELQRMIAAVDTDSPRE

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

>9003_9003_7_BAX-VAV2_BAX_chr19_49464171_ENST00000415969_VAV2_chr9_136629231_ENST00000371851_length(amino acids)=173AA_BP=158
MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLSECLKRIGDELDSNMELQRMIAAVDTDSPRE

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

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Fusion Protein Functional Features


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/chr19:49464171/chr9:136629231)
- 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
BAX

TMBIM6

.
237FUNCTION: 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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBAXchr19:49464171chr9:136629231ENST00000345358+5659_73158.0193.0MotifNote=BH3
HgeneBAXchr19:49464171chr9:136629231ENST00000345358+5698_118158.0193.0MotifNote=BH1
HgeneBAXchr19:49464171chr9:136629231ENST00000354470+4559_73109.0144.0MotifNote=BH3
HgeneBAXchr19:49464171chr9:136629231ENST00000391871+45150_165140.6666666666666688.33333333333333MotifNote=BH2
HgeneBAXchr19:49464171chr9:136629231ENST00000391871+4559_73140.6666666666666688.33333333333333MotifNote=BH3
HgeneBAXchr19:49464171chr9:136629231ENST00000391871+4598_118140.6666666666666688.33333333333333MotifNote=BH1
HgeneBAXchr19:49464171chr9:136629231ENST00000415969+5659_73158.0180.0MotifNote=BH3
HgeneBAXchr19:49464171chr9:136629231ENST00000415969+5698_118158.0180.0MotifNote=BH1
HgeneBAXchr19:49464171chr9:136629231ENST00000539787+67150_165190.66666666666666205.66666666666666MotifNote=BH2
HgeneBAXchr19:49464171chr9:136629231ENST00000539787+6759_73190.66666666666666205.66666666666666MotifNote=BH3
HgeneBAXchr19:49464171chr9:136629231ENST00000539787+6798_118190.66666666666666205.66666666666666MotifNote=BH1
HgeneBAXchr19:49464171chr9:136629231ENST00000391871+45172_192140.6666666666666688.33333333333333TransmembraneHelical
HgeneBAXchr19:49464171chr9:136629231ENST00000539787+67172_192190.66666666666666205.66666666666666TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBAXchr19:49464171chr9:136629231ENST00000293288+15150_1650.0219.0MotifNote=BH2
HgeneBAXchr19:49464171chr9:136629231ENST00000293288+1559_730.0219.0MotifNote=BH3
HgeneBAXchr19:49464171chr9:136629231ENST00000293288+1598_1180.0219.0MotifNote=BH1
HgeneBAXchr19:49464171chr9:136629231ENST00000345358+56150_165158.0193.0MotifNote=BH2
HgeneBAXchr19:49464171chr9:136629231ENST00000354470+45150_165109.0144.0MotifNote=BH2
HgeneBAXchr19:49464171chr9:136629231ENST00000354470+4598_118109.0144.0MotifNote=BH1
HgeneBAXchr19:49464171chr9:136629231ENST00000415969+56150_165158.0180.0MotifNote=BH2
HgeneBAXchr19:49464171chr9:136629231ENST00000293288+15172_1920.0219.0TransmembraneHelical
HgeneBAXchr19:49464171chr9:136629231ENST00000345358+56172_192158.0193.0TransmembraneHelical
HgeneBAXchr19:49464171chr9:136629231ENST00000354470+45172_192109.0144.0TransmembraneHelical
HgeneBAXchr19:49464171chr9:136629231ENST00000415969+56172_192158.0180.0TransmembraneHelical
TgeneVAV2chr19:49464171chr9:136629231ENST000003718502830198_376863.0879.0DomainDH
TgeneVAV2chr19:49464171chr9:136629231ENST0000037185028301_120863.0879.0DomainCalponin-homology (CH)
TgeneVAV2chr19:49464171chr9:136629231ENST000003718502830405_512863.0879.0DomainPH
TgeneVAV2chr19:49464171chr9:136629231ENST000003718502830586_652863.0879.0DomainSH3 1
TgeneVAV2chr19:49464171chr9:136629231ENST000003718502830673_767863.0879.0DomainSH2
TgeneVAV2chr19:49464171chr9:136629231ENST000003718502830816_877863.0879.0DomainSH3 2
TgeneVAV2chr19:49464171chr9:136629231ENST000003718512628198_376853.0869.0DomainDH
TgeneVAV2chr19:49464171chr9:136629231ENST0000037185126281_120853.0869.0DomainCalponin-homology (CH)
TgeneVAV2chr19:49464171chr9:136629231ENST000003718512628405_512853.0869.0DomainPH
TgeneVAV2chr19:49464171chr9:136629231ENST000003718512628586_652853.0869.0DomainSH3 1
TgeneVAV2chr19:49464171chr9:136629231ENST000003718512628673_767853.0869.0DomainSH2
TgeneVAV2chr19:49464171chr9:136629231ENST000003718512628816_877853.0869.0DomainSH3 2
TgeneVAV2chr19:49464171chr9:136629231ENST000004066062527198_376824.0840.0DomainDH
TgeneVAV2chr19:49464171chr9:136629231ENST0000040660625271_120824.0840.0DomainCalponin-homology (CH)
TgeneVAV2chr19:49464171chr9:136629231ENST000004066062527405_512824.0840.0DomainPH
TgeneVAV2chr19:49464171chr9:136629231ENST000004066062527586_652824.0840.0DomainSH3 1
TgeneVAV2chr19:49464171chr9:136629231ENST000004066062527673_767824.0840.0DomainSH2
TgeneVAV2chr19:49464171chr9:136629231ENST000004066062527816_877824.0840.0DomainSH3 2
TgeneVAV2chr19:49464171chr9:136629231ENST000003718502830523_572863.0879.0Zinc fingerPhorbol-ester/DAG-type
TgeneVAV2chr19:49464171chr9:136629231ENST000003718512628523_572853.0869.0Zinc fingerPhorbol-ester/DAG-type
TgeneVAV2chr19:49464171chr9:136629231ENST000004066062527523_572824.0840.0Zinc fingerPhorbol-ester/DAG-type


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
BAX
VAV2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to BAX-VAV2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to BAX-VAV2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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