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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 |
| Component of the spindle-assembly checkpoint thatprevents the onset of anaphase until all chromosomes are properlyaligned at the metaphase plate. Required for the execution of themitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphasepromoting complex by sequestering CDC20 until all chromosomes arealigned at the metaphase plate. {ECO:0000269|PubMed:10700282,ECO:0000269|PubMed:11804586, ECO:0000269|PubMed:15024386}. | Modulates neuronal axonal outgrowth by acting as anegative regulator of CDC42 and STAT3 and a positive regulator ofSTMN2. Positive regulator of CDC27 (By similarity). {ECO:0000250}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MAD2L1_FAM168B |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MAD2L1_FAM168B |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MAD2L1_FAM168B |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAD2L1_FAM168B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MAD2L1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Hgene | MAD2L1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
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