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Fusion gene ID: 33427 |
FusionGeneSummary for SEZ6L_GAP43 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEZ6L_GAP43 | Fusion gene ID: 33427 | Hgene | Tgene | Gene symbol | SEZ6L | GAP43 | Gene ID | 23544 | 2596 |
| Gene name | seizure related 6 homolog like | growth associated protein 43 | |
| Synonyms | - | B-50|PP46 | |
| Cytomap | 22q12.1 | 3q13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | seizure 6-like proteinseizure related gene 6-like | neuromodulinaxonal membrane protein GAP-43calmodulin-binding protein P-57nerve growth-related peptide GAP43neural phosphoprotein B-50neuron growth-associated protein 43protein F1 | |
| Modification date | 20180329 | 20180523 | |
| UniProtAcc | Q9BYH1 | P17677 | |
| Ensembl transtripts involved in fusion gene | ENST00000404234, ENST00000529632, ENST00000360929, ENST00000248933, ENST00000343706, ENST00000402979, ENST00000403121, ENST00000411842, ENST00000494013, | ENST00000305124, ENST00000393780, | |
| Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 4 X 4 X 3=48 |
| # samples | 12 | 4 | |
| ** MAII score | log2(12/72*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SEZ6L [Title/Abstract] AND GAP43 [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 | GAP43 | GO:0051489 | regulation of filopodium assembly | 14978216 |
| 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 | T07418 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| * 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 | ENST00000404234 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000404234 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000529632 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000529632 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000360929 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000360929 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000248933 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000248933 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000343706 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000343706 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000402979 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000402979 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000403121 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| Frame-shift | ENST00000403121 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| intron-3CDS | ENST00000411842 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| intron-3CDS | ENST00000411842 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| intron-3CDS | ENST00000494013 | ENST00000305124 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
| intron-3CDS | ENST00000494013 | ENST00000393780 | SEZ6L | chr22 | 26702013 | + | GAP43 | chr3 | 115395138 | + |
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FusionProtFeatures for SEZ6L_GAP43 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEZ6L | GAP43 |