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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4269

FusionGeneSummary for BMX_BMX

check button Fusion gene summary
Fusion gene informationFusion gene name: BMX_BMX
Fusion gene ID: 4269
HgeneTgene
Gene symbol

BMX

BMX

Gene ID

660

660

Gene nameBMX non-receptor tyrosine kinaseBMX non-receptor tyrosine kinase
SynonymsETK|PSCTK2|PSCTK3ETK|PSCTK2|PSCTK3
Cytomap

Xp22.2

Xp22.2

Type of geneprotein-codingprotein-coding
Descriptioncytoplasmic tyrosine-protein kinase BMXBTK-like on X chromosomeEtk/Bmx cytosolic tyrosine kinaseNTK38 tyrosine kinasebone marrow tyrosine kinase gene in chromosome X proteinepithelial and endothelial tyrosine kinasecytoplasmic tyrosine-protein kinase BMXBTK-like on X chromosomeEtk/Bmx cytosolic tyrosine kinaseNTK38 tyrosine kinasebone marrow tyrosine kinase gene in chromosome X proteinepithelial and endothelial tyrosine kinase
Modification date2018052320180523
UniProtAcc

P51813

P51813

Ensembl transtripts involved in fusion geneENST00000357607, ENST00000348343, 
ENST00000463891, ENST00000342014, 
ENST00000357607, ENST00000348343, 
ENST00000463891, ENST00000342014, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneBMX

GO:0007165

signal transduction

10688651|11331870

HgeneBMX

GO:0046777

protein autophosphorylation

11331870

TgeneBMX

GO:0007165

signal transduction

10688651|11331870

TgeneBMX

GO:0046777

protein autophosphorylation

11331870


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BE180434BMXchrX

15560321

+BMXchrX

15565027

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shiftENST00000357607ENST00000357607BMXchrX

15560321

+BMXchrX

15565027

-
Frame-shiftENST00000357607ENST00000348343BMXchrX

15560321

+BMXchrX

15565027

-
5CDS-intronENST00000357607ENST00000463891BMXchrX

15560321

+BMXchrX

15565027

-
5CDS-intronENST00000357607ENST00000342014BMXchrX

15560321

+BMXchrX

15565027

-
Frame-shiftENST00000348343ENST00000357607BMXchrX

15560321

+BMXchrX

15565027

-
Frame-shiftENST00000348343ENST00000348343BMXchrX

15560321

+BMXchrX

15565027

-
5CDS-intronENST00000348343ENST00000463891BMXchrX

15560321

+BMXchrX

15565027

-
5CDS-intronENST00000348343ENST00000342014BMXchrX

15560321

+BMXchrX

15565027

-
intron-3CDSENST00000463891ENST00000357607BMXchrX

15560321

+BMXchrX

15565027

-
intron-3CDSENST00000463891ENST00000348343BMXchrX

15560321

+BMXchrX

15565027

-
intron-intronENST00000463891ENST00000463891BMXchrX

15560321

+BMXchrX

15565027

-
intron-intronENST00000463891ENST00000342014BMXchrX

15560321

+BMXchrX

15565027

-
Frame-shiftENST00000342014ENST00000357607BMXchrX

15560321

+BMXchrX

15565027

-
Frame-shiftENST00000342014ENST00000348343BMXchrX

15560321

+BMXchrX

15565027

-
5CDS-intronENST00000342014ENST00000463891BMXchrX

15560321

+BMXchrX

15565027

-
5CDS-intronENST00000342014ENST00000342014BMXchrX

15560321

+BMXchrX

15565027

-

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FusionProtFeatures for BMX_BMX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BMX

P51813

BMX

P51813

Non-receptor tyrosine kinase that plays central butdiverse modulatory roles in various signaling processes involvedin the regulation of actin reorganization, cell migration, cellproliferation and survival, cell adhesion, and apoptosis.Participates in signal transduction stimulated by growth factorreceptors, cytokine receptors, G-protein coupled receptors,antigen receptors and integrins. Induces tyrosine phosphorylationof BCAR1 in response to integrin regulation. Activation of BMX byintegrins is mediated by PTK2/FAK1, a key mediator of integrinsignaling events leading to the regulation of actin cytoskeletonand cell motility. Plays a critical role in TNF-inducedangiogenesis, and implicated in the signaling of TEK and FLT1receptors, 2 important receptor families essential forangiogenesis. Required for the phosphorylation and activation ofSTAT3, a transcription factor involved in cell differentiation.Also involved in interleukin-6 (IL6) induced differentiation.Plays also a role in programming adaptive cytoprotection againstextracellular stress in different cell systems, salivaryepithelial cells, brain endothelial cells, and dermal fibroblasts.May be involved in regulation of endocytosis through itsinteraction with an endosomal protein RUFY1. May also play a rolein the growth and differentiation of hematopoietic cells; as wellas in signal transduction in endocardial and arterial endothelialcells. {ECO:0000269|PubMed:10688651, ECO:0000269|PubMed:11331870,ECO:0000269|PubMed:12370298, ECO:0000269|PubMed:12832404,ECO:0000269|PubMed:15788485, ECO:0000269|PubMed:18292575,ECO:0000269|PubMed:9520419}. Non-receptor tyrosine kinase that plays central butdiverse modulatory roles in various signaling processes involvedin the regulation of actin reorganization, cell migration, cellproliferation and survival, cell adhesion, and apoptosis.Participates in signal transduction stimulated by growth factorreceptors, cytokine receptors, G-protein coupled receptors,antigen receptors and integrins. Induces tyrosine phosphorylationof BCAR1 in response to integrin regulation. Activation of BMX byintegrins is mediated by PTK2/FAK1, a key mediator of integrinsignaling events leading to the regulation of actin cytoskeletonand cell motility. Plays a critical role in TNF-inducedangiogenesis, and implicated in the signaling of TEK and FLT1receptors, 2 important receptor families essential forangiogenesis. Required for the phosphorylation and activation ofSTAT3, a transcription factor involved in cell differentiation.Also involved in interleukin-6 (IL6) induced differentiation.Plays also a role in programming adaptive cytoprotection againstextracellular stress in different cell systems, salivaryepithelial cells, brain endothelial cells, and dermal fibroblasts.May be involved in regulation of endocytosis through itsinteraction with an endosomal protein RUFY1. May also play a rolein the growth and differentiation of hematopoietic cells; as wellas in signal transduction in endocardial and arterial endothelialcells. {ECO:0000269|PubMed:10688651, ECO:0000269|PubMed:11331870,ECO:0000269|PubMed:12370298, ECO:0000269|PubMed:12832404,ECO:0000269|PubMed:15788485, ECO:0000269|PubMed:18292575,ECO:0000269|PubMed:9520419}.

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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FusionGeneSequence for BMX_BMX


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for BMX_BMX


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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RelatedDrugs for BMX_BMX


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BMX_BMX


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