|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 11141 |
FusionGeneSummary for EHBP1_BLOC1S2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EHBP1_BLOC1S2 | Fusion gene ID: 11141 | Hgene | Tgene | Gene symbol | EHBP1 | BLOC1S2 | Gene ID | 23301 | 282991 |
| Gene name | EH domain binding protein 1 | biogenesis of lysosomal organelles complex 1 subunit 2 | |
| Synonyms | HPC12|NACSIN | BLOS2|BORCS2|CEAP|CEAP11 | |
| Cytomap | 2p15 | 10q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | EH domain-binding protein 1NPF calponin-like proteintestis tissue sperm-binding protein Li 50e | biogenesis of lysosome-related organelles complex 1 subunit 211 kDa centrosome associated proteinBLOC-1 subunit 2centrosomal 10 kDa proteincentrosome protein oncogene | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8NDI1 | Q6QNY1 | |
| Ensembl transtripts involved in fusion gene | ENST00000405015, ENST00000431489, ENST00000354487, ENST00000263991, ENST00000405289, ENST00000496857, | ENST00000441611, ENST00000370372, ENST00000361832, | |
| Fusion gene scores | * DoF score | 6 X 9 X 8=432 | 1 X 1 X 1=1 |
| # samples | 12 | 1 | |
| ** MAII score | log2(12/432*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: EHBP1 [Title/Abstract] AND BLOC1S2 [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 |
| Tgene | BLOC1S2 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 18188704 |
| Tgene | BLOC1S2 | GO:0097345 | mitochondrial outer membrane permeabilization | 18188704 |
| 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 | BF830694 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| * 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 |
| intron-intron | ENST00000405015 | ENST00000441611 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000405015 | ENST00000370372 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000405015 | ENST00000361832 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000431489 | ENST00000441611 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000431489 | ENST00000370372 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000431489 | ENST00000361832 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000354487 | ENST00000441611 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000354487 | ENST00000370372 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000354487 | ENST00000361832 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000263991 | ENST00000441611 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000263991 | ENST00000370372 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000263991 | ENST00000361832 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000405289 | ENST00000441611 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000405289 | ENST00000370372 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000405289 | ENST00000361832 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000496857 | ENST00000441611 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000496857 | ENST00000370372 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
| intron-intron | ENST00000496857 | ENST00000361832 | EHBP1 | chr2 | 63259419 | - | BLOC1S2 | chr10 | 102041174 | - |
Top |
FusionProtFeatures for EHBP1_BLOC1S2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EHBP1 | BLOC1S2 |