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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: 21594

FusionGeneSummary for MEF2D_ADAMTS4

check button Fusion gene summary
Fusion gene informationFusion gene name: MEF2D_ADAMTS4
Fusion gene ID: 21594
HgeneTgene
Gene symbol

MEF2D

ADAMTS4

Gene ID

4209

9507

Gene namemyocyte enhancer factor 2DADAM metallopeptidase with thrombospondin type 1 motif 4
Synonyms-ADAMTS-2|ADAMTS-4|ADMP-1
Cytomap

1q22

1q23.3

Type of geneprotein-codingprotein-coding
Descriptionmyocyte-specific enhancer factor 2DMADS box transcription enhancer factor 2, polypeptide DA disintegrin and metalloproteinase with thrombospondin motifs 4ADAM-TS 4ADAM-TS4a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4aggrecanase-1
Modification date2018052320180519
UniProtAcc

Q14814

O75173

Ensembl transtripts involved in fusion geneENST00000464356, ENST00000348159, 
ENST00000353795, ENST00000340875, 
ENST00000368240, ENST00000360595, 
ENST00000367996, ENST00000478394, 
ENST00000367995, 
Fusion gene scores* DoF score9 X 5 X 6=2702 X 3 X 2=12
# samples 83
** MAII scorelog2(8/270*10)=-1.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MEF2D [Title/Abstract] AND ADAMTS4 [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
HgeneMEF2D

GO:0045944

positive regulation of transcription by RNA polymerase II

20590529


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
TCGALDPRADTCGA-EJ-5518-01AMEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
* 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-3CDSENST00000464356ENST00000367996MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
intron-intronENST00000464356ENST00000478394MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
intron-intronENST00000464356ENST00000367995MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-3CDSENST00000348159ENST00000367996MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000348159ENST00000478394MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000348159ENST00000367995MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-3CDSENST00000353795ENST00000367996MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000353795ENST00000478394MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000353795ENST00000367995MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-3CDSENST00000340875ENST00000367996MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000340875ENST00000478394MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000340875ENST00000367995MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-3CDSENST00000368240ENST00000367996MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000368240ENST00000478394MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
5UTR-intronENST00000368240ENST00000367995MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
intron-3CDSENST00000360595ENST00000367996MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
intron-intronENST00000360595ENST00000478394MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-
intron-intronENST00000360595ENST00000367995MEF2Dchr1

156470278

-ADAMTS4chr1

161166670

-

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FusionProtFeatures for MEF2D_ADAMTS4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MEF2D

Q14814

ADAMTS4

O75173

Transcriptional activator which binds specifically tothe MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediatescellular functions not only in skeletal and cardiac muscledevelopment, but also in neuronal differentiation and survival.Plays diverse roles in the control of cell growth, survival andapoptosis via p38 MAPK signaling in muscle-specific and/or growthfactor-related transcription. Plays a critical role in theregulation of neuronal apoptosis (By similarity). {ECO:0000250,ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:11904443,ECO:0000269|PubMed:12691662, ECO:0000269|PubMed:15743823,ECO:0000269|PubMed:15834131}. Cleaves aggrecan, a cartilage proteoglycan, and may beinvolved in its turnover. May play an important role in thedestruction of aggrecan in arthritic diseases. Could also be acritical factor in the exacerbation of neurodegeneration inAlzheimer disease. Cleaves aggrecan at the '392-Glu-|-Ala-393'site.

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 MEF2D_ADAMTS4


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 MEF2D_ADAMTS4


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
MEF2DYWHAQ, HDAC5, HDAC4, EP300, CABIN1, NFATC2, SP1, MAPK7, MEF2A, SNCA, CARM1, PRMT5, MAPK14, COPS5, HDAC3, KAT2B, SENP3, PRKACA, ASH2L, MEN1, RBBP5, KMT2D, HIRA, HDAC1, ASCL1, APP, CDK6, SHMT2, MOV10, NXF1, SKP2, FUS, XPO1, JUN, DNMT3L, MEF2BADAMTS4ELAVL1, ZBTB16, YTHDC1, TFAP4, TUBB1, CCDC33, XIAP, BIRC2, KIAA0232, DICER1, LOXL2, DPH6, TUBA4A, RAD51B, ATP2B2, TUBB3, ADAMTS2, ITPA, FRAS1, TUBA1A, TRAF2, MANBA, MKS1, TARBP2, RAD51C, BIRC6


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 MEF2D_ADAMTS4


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 MEF2D_ADAMTS4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMEF2DC0338480Common Migraine1CTD_human