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Fusion gene ID: 20541 |
FusionGeneSummary for MAD2L1_FAM168B |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MAD2L1_FAM168B |
![]() (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 |
![]() (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 |