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Fusion gene ID: 4269 |
FusionGeneSummary for BMX_BMX |
Fusion gene summary |
Fusion gene information | Fusion gene name: BMX_BMX | Fusion gene ID: 4269 | Hgene | Tgene | Gene symbol | BMX | BMX | Gene ID | 660 | 660 |
Gene name | BMX non-receptor tyrosine kinase | BMX non-receptor tyrosine kinase | |
Synonyms | ETK|PSCTK2|PSCTK3 | ETK|PSCTK2|PSCTK3 | |
Cytomap | Xp22.2 | Xp22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cytoplasmic 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 | cytoplasmic 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 date | 20180523 | 20180523 | |
UniProtAcc | P51813 | P51813 | |
Ensembl transtripts involved in fusion gene | ENST00000357607, ENST00000348343, ENST00000463891, ENST00000342014, | ENST00000357607, ENST00000348343, ENST00000463891, ENST00000342014, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BMX | GO:0007165 | signal transduction | 10688651|11331870 |
Hgene | BMX | GO:0046777 | protein autophosphorylation | 11331870 |
Tgene | BMX | GO:0007165 | signal transduction | 10688651|11331870 |
Tgene | BMX | GO:0046777 | protein autophosphorylation | 11331870 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BE180434 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000357607 | ENST00000357607 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
Frame-shift | ENST00000357607 | ENST00000348343 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
5CDS-intron | ENST00000357607 | ENST00000463891 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
5CDS-intron | ENST00000357607 | ENST00000342014 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
Frame-shift | ENST00000348343 | ENST00000357607 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
Frame-shift | ENST00000348343 | ENST00000348343 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
5CDS-intron | ENST00000348343 | ENST00000463891 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
5CDS-intron | ENST00000348343 | ENST00000342014 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
intron-3CDS | ENST00000463891 | ENST00000357607 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
intron-3CDS | ENST00000463891 | ENST00000348343 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
intron-intron | ENST00000463891 | ENST00000463891 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
intron-intron | ENST00000463891 | ENST00000342014 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
Frame-shift | ENST00000342014 | ENST00000357607 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
Frame-shift | ENST00000342014 | ENST00000348343 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
5CDS-intron | ENST00000342014 | ENST00000463891 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
5CDS-intron | ENST00000342014 | ENST00000342014 | BMX | chrX | 15560321 | + | BMX | chrX | 15565027 | - |
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FusionProtFeatures for BMX_BMX |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
BMX | BMX |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for BMX_BMX |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BMX_BMX |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BMX_BMX |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |