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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: 21333

FusionGeneSummary for MCTP1_MBD5

check button Fusion gene summary
Fusion gene informationFusion gene name: MCTP1_MBD5
Fusion gene ID: 21333
HgeneTgene
Gene symbol

MCTP1

MBD5

Gene ID

79772

55777

Gene namemultiple C2 and transmembrane domain containing 1methyl-CpG binding domain protein 5
Synonyms-MRD1
Cytomap

5q15

2q23.1

Type of geneprotein-codingprotein-coding
Descriptionmultiple C2 and transmembrane domain-containing protein 1multiple C2 domains, transmembrane 1multiple C2-domains with two transmembrane regions 1methyl-CpG-binding domain protein 5methyl-CpG-binding protein MBD5
Modification date2018052320180523
UniProtAcc

Q6DN14

Q9P267

Ensembl transtripts involved in fusion geneENST00000515393, ENST00000429576, 
ENST00000312216, ENST00000505208, 
ENST00000514040, ENST00000505078, 
ENST00000407073, ENST00000478804, 
ENST00000404807, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 6 X 5=210
# samples 47
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCTP1 [Title/Abstract] AND MBD5 [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

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
ChiTaRS3.1BF841033MCTP1chr5

94409506

+MBD5chr2

149267006

-
* 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-intronENST00000515393ENST00000407073MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000515393ENST00000478804MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000515393ENST00000404807MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000429576ENST00000407073MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000429576ENST00000478804MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000429576ENST00000404807MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000312216ENST00000407073MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000312216ENST00000478804MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000312216ENST00000404807MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000505208ENST00000407073MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000505208ENST00000478804MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000505208ENST00000404807MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000514040ENST00000407073MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000514040ENST00000478804MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000514040ENST00000404807MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000505078ENST00000407073MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000505078ENST00000478804MCTP1chr5

94409506

+MBD5chr2

149267006

-
intron-intronENST00000505078ENST00000404807MCTP1chr5

94409506

+MBD5chr2

149267006

-

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FusionProtFeatures for MCTP1_MBD5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MCTP1

Q6DN14

MBD5

Q9P267

Calcium sensor which is essential for the stabilizationof normal baseline neurotransmitter release and for the inductionand long-term maintenance of presynaptic homeostatic plasticity.{ECO:0000250|UniProtKB:A1ZBD6}. Binds to heterochromatin. Does not interact with eithermethylated or unmethylated DNA (in vitro).

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 MCTP1_MBD5


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 MCTP1_MBD5


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 MCTP1_MBD5


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 MCTP1_MBD5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMBD5C0005586Bipolar Disorder1PSYGENET