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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20541

FusionGeneSummary for MAD2L1_FAM168B

check button Fusion gene summary
Fusion gene informationFusion gene name: MAD2L1_FAM168B
Fusion gene ID: 20541
HgeneTgene
Gene symbol

MAD2L1

FAM168B

Gene ID

4085

130074

Gene namemitotic arrest deficient 2 like 1family with sequence similarity 168 member B
SynonymsHSMAD2|MAD2MANI
Cytomap

4q27

2q21.1

Type of geneprotein-codingprotein-coding
Descriptionmitotic 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 1myelin-associated neurite-outgrowth inhibitorprotein FAM168B
Modification date2018052220180519
UniProtAcc

Q13257

A1KXE4

Ensembl transtripts involved in fusion geneENST00000296509, ENST00000409185, 
ENST00000389915, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 7 X 2=70
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMAD2L1

GO:0007093

mitotic cell cycle checkpoint

8824189

HgeneMAD2L1

GO:0042177

negative regulation of protein catabolic process

11459825

HgeneMAD2L1

GO:1904667

negative regulation of ubiquitin protein ligase activity

11459825


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1U65410MAD2L1chr4

120980669

-FAM168Bchr2

131809762

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3UTRENST00000296509ENST00000409185MAD2L1chr4

120980669

-FAM168Bchr2

131809762

+
intron-intronENST00000296509ENST00000389915MAD2L1chr4

120980669

-FAM168Bchr2

131809762

+

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FusionProtFeatures for MAD2L1_FAM168B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAD2L1

Q13257

FAM168B

A1KXE4

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MAD2L1_FAM168B


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MAD2L1_FAM168B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MAD2L1_FAM168B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAD2L1C0032460Polycystic Ovary Syndrome1CTD_human
HgeneMAD2L1C0279626Squamous cell carcinoma of esophagus1CTD_human