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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: 21188

FusionGeneSummary for MBD5_MIA3

check button Fusion gene summary
Fusion gene informationFusion gene name: MBD5_MIA3
Fusion gene ID: 21188
HgeneTgene
Gene symbol

MBD5

MIA3

Gene ID

55777

375056

Gene namemethyl-CpG binding domain protein 5MIA SH3 domain ER export factor 3
SynonymsMRD1ARNT|D320|TANGO|TANGO1|UNQ6077
Cytomap

2q23.1

1q41

Type of geneprotein-codingprotein-coding
Descriptionmethyl-CpG-binding domain protein 5methyl-CpG-binding protein MBD5transport and Golgi organization protein 1 homologC219-reactive peptideMIA family member 3, ER export factormelanoma inhibitory activity family, member 3melanoma inhibitory activity protein 3transport and Golgi organization protein 1
Modification date2018052320180523
UniProtAcc

Q9P267

Q5JRA6

Ensembl transtripts involved in fusion geneENST00000407073, ENST00000478804, 
ENST00000404807, 
ENST00000344922, 
ENST00000344441, ENST00000344507, 
ENST00000340535, ENST00000470521, 
Fusion gene scores* DoF score6 X 4 X 4=961 X 1 X 1=1
# samples 71
** MAII scorelog2(7/96*10)=-0.45567948377619
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: MBD5 [Title/Abstract] AND MIA3 [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
TgeneMIA3

GO:0002687

positive regulation of leukocyte migration

17726152

TgeneMIA3

GO:0007162

negative regulation of cell adhesion

17726152

TgeneMIA3

GO:0030336

negative regulation of cell migration

17044017

TgeneMIA3

GO:0042060

wound healing

17044017


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
ChiTaRS3.1BF770897MBD5chr2

148796419

-MIA3chr1

222819160

+
* 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-intronENST00000407073ENST00000344922MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000407073ENST00000344441MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000407073ENST00000344507MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000407073ENST00000340535MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-3UTRENST00000407073ENST00000470521MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000478804ENST00000344922MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000478804ENST00000344441MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000478804ENST00000344507MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000478804ENST00000340535MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-3UTRENST00000478804ENST00000470521MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000404807ENST00000344922MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000404807ENST00000344441MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000404807ENST00000344507MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-intronENST00000404807ENST00000340535MBD5chr2

148796419

-MIA3chr1

222819160

+
intron-3UTRENST00000404807ENST00000470521MBD5chr2

148796419

-MIA3chr1

222819160

+

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FusionProtFeatures for MBD5_MIA3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MBD5

Q9P267

MIA3

Q5JRA6

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 MBD5_MIA3


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 MBD5_MIA3


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 MBD5_MIA3


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 MBD5_MIA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMBD5C0005586Bipolar Disorder1PSYGENET
TgeneMIA3C0027051Myocardial Infarction1CTD_human
TgeneMIA3C1956346Coronary Artery Disease1CTD_human