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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: 21600

FusionGeneSummary for MEF2D_SORL1

check button Fusion gene summary
Fusion gene informationFusion gene name: MEF2D_SORL1
Fusion gene ID: 21600
HgeneTgene
Gene symbol

MEF2D

SORL1

Gene ID

4209

6653

Gene namemyocyte enhancer factor 2Dsortilin related receptor 1
Synonyms-C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250
Cytomap

1q22

11q24.1

Type of geneprotein-codingprotein-coding
Descriptionmyocyte-specific enhancer factor 2DMADS box transcription enhancer factor 2, polypeptide Dsortilin-related receptorLDLR relative with 11 ligand-binding repeatslow-density lipoprotein receptor relative with 11 ligand-binding repeatsmosaic protein LR11sortilin-related receptor, L(DLR class) A repeats containingsorting protein-related recept
Modification date2018052320180527
UniProtAcc

Q14814

Q92673

Ensembl transtripts involved in fusion geneENST00000464356, ENST00000348159, 
ENST00000353795, ENST00000340875, 
ENST00000368240, ENST00000360595, 
ENST00000260197, ENST00000532451, 
ENST00000525532, ENST00000532694, 
ENST00000534286, ENST00000527934, 
Fusion gene scores* DoF score9 X 5 X 6=27011 X 10 X 6=660
# samples 810
** MAII scorelog2(8/270*10)=-1.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MEF2D [Title/Abstract] AND SORL1 [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

TgeneSORL1

GO:0006605

protein targeting

16407538

TgeneSORL1

GO:0006622

protein targeting to lysosome

24523320

TgeneSORL1

GO:0006892

post-Golgi vesicle-mediated transport

17855360

TgeneSORL1

GO:0014910

regulation of smooth muscle cell migration

14764453

TgeneSORL1

GO:0032091

negative regulation of protein binding

16407538

TgeneSORL1

GO:0034067

protein localization to Golgi apparatus

17855360

TgeneSORL1

GO:0045053

protein retention in Golgi apparatus

17855360

TgeneSORL1

GO:0045732

positive regulation of protein catabolic process

24523320

TgeneSORL1

GO:0051604

protein maturation

17855360

TgeneSORL1

GO:1902430

negative regulation of amyloid-beta formation

16407538|22621900

TgeneSORL1

GO:1902960

negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process

16407538


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
TCGARVLGGTCGA-TM-A84J-01AMEF2Dchr1

156470278

-SORL1chr11

121424646

+
* 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-3CDSENST00000464356ENST00000260197MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000464356ENST00000532451MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000464356ENST00000525532MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000464356ENST00000532694MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000464356ENST00000534286MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000464356ENST00000527934MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-3CDSENST00000348159ENST00000260197MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000348159ENST00000532451MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000348159ENST00000525532MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000348159ENST00000532694MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000348159ENST00000534286MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000348159ENST00000527934MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-3CDSENST00000353795ENST00000260197MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000353795ENST00000532451MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000353795ENST00000525532MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000353795ENST00000532694MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000353795ENST00000534286MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000353795ENST00000527934MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-3CDSENST00000340875ENST00000260197MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000340875ENST00000532451MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000340875ENST00000525532MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000340875ENST00000532694MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000340875ENST00000534286MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000340875ENST00000527934MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-3CDSENST00000368240ENST00000260197MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000368240ENST00000532451MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000368240ENST00000525532MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000368240ENST00000532694MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000368240ENST00000534286MEF2Dchr1

156470278

-SORL1chr11

121424646

+
5UTR-intronENST00000368240ENST00000527934MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-3CDSENST00000360595ENST00000260197MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000360595ENST00000532451MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000360595ENST00000525532MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000360595ENST00000532694MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000360595ENST00000534286MEF2Dchr1

156470278

-SORL1chr11

121424646

+
intron-intronENST00000360595ENST00000527934MEF2Dchr1

156470278

-SORL1chr11

121424646

+

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FusionProtFeatures for MEF2D_SORL1


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

Q14814

SORL1

Q92673

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}. Likely to be a multifunctional endocytic receptor, thatmay be implicated in the uptake of lipoproteins and of proteases.Binds LDL, the major cholesterol-carrying lipoprotein of plasma,and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cellinteraction. Involved in APP trafficking to and from the Golgiapparatus. It probably acts as a sorting receptor that protectsAPP from trafficking to late endosome and from processing intoamyloid beta, thereby reducing the burden of amyloidogenic peptideformation. Involved in the regulation of smooth muscle cellsmigration, probably through PLAUR binding and decreasedinternalization. {ECO:0000269|PubMed:14764453,ECO:0000269|PubMed:16174740}.

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_SORL1


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_SORL1


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, MEF2BSORL1LRPAP1, GGA1, GGA2, PPP1CA, CUL1, COPS5, COPS6, FBXO6, CFTR, DYRK3, POP1, AURKA, APP, PACS1, FAM76B, HLA-DPA1, RSPO1, LGALS8, FGL1, LGALS9, DLD, FOSL2, WISP3, SP6, ZFP41, FOXI2, ZNF354C, TYW3, ZNF563, ZNF224, ZNF408, ZNF331, EGFL6, ZNF169, FAM19A3, OS9, ZBBX, ZNF517, ZNF264, PSG1, SREBF1, MDK, SCGB1D1, ZNF816, FAM19A4, SOST, CDHR5, ZNF549, GCNT3, CEP97


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_SORL1


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_SORL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMEF2DC0338480Common Migraine1CTD_human
TgeneSORL1C0008370Cholestasis1CTD_human
TgeneSORL1C0027626Neoplasm Invasiveness1CTD_human
TgeneSORL1C4277682Chemical and Drug Induced Liver Injury1CTD_human