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Fusion gene ID: 20541 |
FusionGeneSummary for MAD2L1_FAM168B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAD2L1_FAM168B | Fusion gene ID: 20541 | Hgene | Tgene | Gene symbol | MAD2L1 | FAM168B | Gene ID | 4085 | 130074 |
| Gene name | mitotic arrest deficient 2 like 1 | family with sequence similarity 168 member B | |
| Synonyms | HSMAD2|MAD2 | MANI | |
| Cytomap | 4q27 | 2q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitotic spindle assembly checkpoint protein MAD2AMAD2 (mitotic arrest deficient, yeast, homolog)-like 1MAD2 mitotic arrest deficient-like 1MAD2-like protein 1mitotic arrest deficient 2-like protein 1mitotic arrest deficient, yeast, homolog-like 1 | myelin-associated neurite-outgrowth inhibitorprotein FAM168B | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q13257 | A1KXE4 | |
| Ensembl transtripts involved in fusion gene | ENST00000296509, | ENST00000409185, ENST00000389915, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 7 X 2=70 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/70*10)=0 | |
| Context | PubMed: MAD2L1 [Title/Abstract] AND FAM168B [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 | MAD2L1 | GO:0007093 | mitotic cell cycle checkpoint | 8824189 |
| Hgene | MAD2L1 | GO:0042177 | negative regulation of protein catabolic process | 11459825 |
| Hgene | MAD2L1 | GO:1904667 | negative regulation of ubiquitin protein ligase activity | 11459825 |
| 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 | U65410 | MAD2L1 | chr4 | 120980669 | - | FAM168B | chr2 | 131809762 | + |
| * 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-3UTR | ENST00000296509 | ENST00000409185 | MAD2L1 | chr4 | 120980669 | - | FAM168B | chr2 | 131809762 | + |
| intron-intron | ENST00000296509 | ENST00000389915 | MAD2L1 | chr4 | 120980669 | - | FAM168B | chr2 | 131809762 | + |
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FusionProtFeatures for MAD2L1_FAM168B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAD2L1 | FAM168B |