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Fusion gene ID: 42518 |
FusionGeneSummary for ZBTB48_ESPN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZBTB48_ESPN | Fusion gene ID: 42518 | Hgene | Tgene | Gene symbol | ZBTB48 | ESPN | Gene ID | 3104 | 83715 |
| Gene name | zinc finger and BTB domain containing 48 | espin | |
| Synonyms | HKR3|TZAP|ZNF855|pp9964 | DFNB36|LP2654 | |
| Cytomap | 1p36.31 | 1p36.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | telomere zinc finger-associated proteinGLI-Kruppel family member HKR3krueppel-related zinc finger protein 3telomeric zinc finger-associated proteinzinc finger and BTB domain-containing protein 48zinc finger protein 855 | espinautosomal recessive deafness type 36 proteinectoplasmic specialization protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P10074 | B1AK53 | |
| Ensembl transtripts involved in fusion gene | ENST00000377674, | ENST00000377828, ENST00000461727, ENST00000475228, ENST00000416731, | |
| Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 3 X 2 X 2=12 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/36*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ZBTB48 [Title/Abstract] AND ESPN [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| TCGA | RV | GBM | TCGA-14-0786-01B | ZBTB48 | chr1 | 6647351 | + | ESPN | chr1 | 6488286 | + |
| * 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 |
| In-frame | ENST00000377674 | ENST00000377828 | ZBTB48 | chr1 | 6647351 | + | ESPN | chr1 | 6488286 | + |
| 5CDS-intron | ENST00000377674 | ENST00000461727 | ZBTB48 | chr1 | 6647351 | + | ESPN | chr1 | 6488286 | + |
| 5CDS-intron | ENST00000377674 | ENST00000475228 | ZBTB48 | chr1 | 6647351 | + | ESPN | chr1 | 6488286 | + |
| 5CDS-intron | ENST00000377674 | ENST00000416731 | ZBTB48 | chr1 | 6647351 | + | ESPN | chr1 | 6488286 | + |
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FusionProtFeatures for ZBTB48_ESPN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZBTB48 | ESPN |