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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: 15829

FusionGeneSummary for HAPLN4_MEF2B

check button Fusion gene summary
Fusion gene informationFusion gene name: HAPLN4_MEF2B
Fusion gene ID: 15829
HgeneTgene
Gene symbol

HAPLN4

MEF2B

Gene ID

404037

100271849

Gene namehyaluronan and proteoglycan link protein 4myocyte enhancer factor 2B
SynonymsBRAL2RSRFR2
Cytomap

19p13.11

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionhyaluronan and proteoglycan link protein 4brain link protein 2myocyte-specific enhancer factor 2BMADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)serum response factor-like protein 2
Modification date2018052320180523
UniProtAcc

Q86UW8

Q02080

Ensembl transtripts involved in fusion geneENST00000291481, ENST00000409224, 
ENST00000424583, ENST00000410050, 
ENST00000602424, ENST00000409447, 
ENST00000162023, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 3=27
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HAPLN4 [Title/Abstract] AND MEF2B [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
TgeneMEF2B

GO:0045944

positive regulation of transcription by RNA polymerase II

7760790


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
TCGALDUCECTCGA-AJ-A2QM-01AHAPLN4chr19

19371622

-MEF2Bchr19

19261573

-
* 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
5CDS-5UTRENST00000291481ENST00000409224HAPLN4chr19

19371622

-MEF2Bchr19

19261573

-
5CDS-5UTRENST00000291481ENST00000424583HAPLN4chr19

19371622

-MEF2Bchr19

19261573

-
5CDS-5UTRENST00000291481ENST00000410050HAPLN4chr19

19371622

-MEF2Bchr19

19261573

-
5CDS-5UTRENST00000291481ENST00000602424HAPLN4chr19

19371622

-MEF2Bchr19

19261573

-
5CDS-5UTRENST00000291481ENST00000409447HAPLN4chr19

19371622

-MEF2Bchr19

19261573

-
5CDS-5UTRENST00000291481ENST00000162023HAPLN4chr19

19371622

-MEF2Bchr19

19261573

-

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FusionProtFeatures for HAPLN4_MEF2B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HAPLN4

Q86UW8

MEF2B

Q02080

Binds to hyaluronic acid and may be involved information of the extracellular matrix.{ECO:0000250|UniProtKB:Q80WM4}. Transcriptional activator which binds specifically tothe MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Activates transcription via this element. May beinvolved in muscle-specific and/or growth factor-relatedtranscription.

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 HAPLN4_MEF2B


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 HAPLN4_MEF2B


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
HAPLN4MEF2BHDAC9, CABIN1, HDAC6, MEF2A, MEF2BNB-MEF2B, MEF2D, MEF2C, UBN2


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 HAPLN4_MEF2B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHAPLN4Q86UW8DB08818Hyaluronic acidHyaluronan and proteoglycan link protein 4small moleculeapproved|vet_approved

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RelatedDiseases for HAPLN4_MEF2B


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