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Fusion gene ID: 16738 |
FusionGeneSummary for HPCAL1_EFCAB13 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: HPCAL1_EFCAB13 | Fusion gene ID: 16738 | Hgene | Tgene | Gene symbol | HPCAL1 | EFCAB13 | Gene ID | 3241 | 124989 |
| Gene name | hippocalcin like 1 | EF-hand calcium binding domain 13 | |
| Synonyms | BDR1|HLP2|VILIP-3 | C17orf57 | |
| Cytomap | 2p25.1 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hippocalcin-like protein 1calcium-binding protein BDR-1visinin-like protein 3 | EF-hand calcium-binding domain-containing protein 13EF-hand domain-containing protein C17orf57 | |
| Modification date | 20180519 | 20180329 | |
| UniProtAcc | P37235 | Q8IY85 | |
| Ensembl transtripts involved in fusion gene | ENST00000307845, ENST00000381765, | ENST00000331493, ENST00000517484, ENST00000520802, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 3 X 3 X 3=27 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HPCAL1 [Title/Abstract] AND EFCAB13 [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 |
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 | BU149152 | HPCAL1 | chr2 | 10563912 | + | EFCAB13 | chr17 | 45502497 | + |
| * 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 | ENST00000307845 | ENST00000331493 | HPCAL1 | chr2 | 10563912 | + | EFCAB13 | chr17 | 45502497 | + |
| intron-intron | ENST00000307845 | ENST00000517484 | HPCAL1 | chr2 | 10563912 | + | EFCAB13 | chr17 | 45502497 | + |
| intron-intron | ENST00000307845 | ENST00000520802 | HPCAL1 | chr2 | 10563912 | + | EFCAB13 | chr17 | 45502497 | + |
| intron-intron | ENST00000381765 | ENST00000331493 | HPCAL1 | chr2 | 10563912 | + | EFCAB13 | chr17 | 45502497 | + |
| intron-intron | ENST00000381765 | ENST00000517484 | HPCAL1 | chr2 | 10563912 | + | EFCAB13 | chr17 | 45502497 | + |
| intron-intron | ENST00000381765 | ENST00000520802 | HPCAL1 | chr2 | 10563912 | + | EFCAB13 | chr17 | 45502497 | + |
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FusionProtFeatures for HPCAL1_EFCAB13 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HPCAL1 | EFCAB13 |