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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: 11578

FusionGeneSummary for EMP2_SORL1

check button Fusion gene summary
Fusion gene informationFusion gene name: EMP2_SORL1
Fusion gene ID: 11578
HgeneTgene
Gene symbol

EMP2

SORL1

Gene ID

2013

6653

Gene nameepithelial membrane protein 2sortilin related receptor 1
SynonymsXMPC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250
Cytomap

16p13.13

11q24.1

Type of geneprotein-codingprotein-coding
Descriptionepithelial membrane protein 2sortilin-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 date2018052720180527
UniProtAcc

P54851

Q92673

Ensembl transtripts involved in fusion geneENST00000359543, ENST00000566033, 
ENST00000536829, 		ENST00000260197, 
ENST00000532451, ENST00000525532, 
ENST00000532694, ENST00000534286, 
ENST00000527934, 
Fusion gene scores* DoF score8 X 7 X 7=39211 X 10 X 6=660
# samples 910
** MAII scorelog2(9/392*10)=-2.12285674778553
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: EMP2 [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
HgeneEMP2

GO:0001954

positive regulation of cell-matrix adhesion

16216233

HgeneEMP2

GO:0003093

regulation of glomerular filtration

24814193

HgeneEMP2

GO:0007015

actin filament organization

19494199

HgeneEMP2

GO:0007155

cell adhesion

19494199

HgeneEMP2

GO:0007160

cell-matrix adhesion

19494199

HgeneEMP2

GO:0008219

cell death

12107182

HgeneEMP2

GO:0008283

cell proliferation

21637765

HgeneEMP2

GO:0010594

regulation of endothelial cell migration

23334331

HgeneEMP2

GO:0016477

cell migration

21637765

HgeneEMP2

GO:0032060

bleb assembly

12107182

HgeneEMP2

GO:0032147

activation of protein kinase activity

21637765

HgeneEMP2

GO:0043534

blood vessel endothelial cell migration

23439602

HgeneEMP2

GO:0043549

regulation of kinase activity

18469192

HgeneEMP2

GO:0045765

regulation of angiogenesis

23334331

HgeneEMP2

GO:0070252

actin-mediated cell contraction

18469192|22728127

HgeneEMP2

GO:2001046

positive regulation of integrin-mediated signaling pathway

16216233

HgeneEMP2

GO:2001212

regulation of vasculogenesis

23334331

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
TCGALDHNSCTCGA-CX-7219-01AEMP2chr16

10626061

-SORL1chr11

121461197

+
* 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-intronENST00000359543ENST00000260197EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000359543ENST00000532451EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000359543ENST00000525532EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000359543ENST00000532694EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000359543ENST00000534286EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-5UTRENST00000359543ENST00000527934EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000566033ENST00000260197EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000566033ENST00000532451EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000566033ENST00000525532EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000566033ENST00000532694EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000566033ENST00000534286EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-5UTRENST00000566033ENST00000527934EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000536829ENST00000260197EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000536829ENST00000532451EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000536829ENST00000525532EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000536829ENST00000532694EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-intronENST00000536829ENST00000534286EMP2chr16

10626061

-SORL1chr11

121461197

+
intron-5UTRENST00000536829ENST00000527934EMP2chr16

10626061

-SORL1chr11

121461197

+

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FusionProtFeatures for EMP2_SORL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EMP2

P54851

SORL1

Q92673

Functions as a key regulator of cell membranecomposition by regulating proteins surface expression. Also, playsa role in regulation of processes including cell migration, cellproliferation, cell contraction and cell adhesion. Negativelyregulates caveolae formation by reducing CAV1 expression and CAV1amount by increasing lysosomal degradation (PubMed:24814193).Facilitates surface trafficking and formation of lipid raftsbearing GPI-anchor proteins (By similarity). Regulates surfaceexpression of MHC1 and ICAM1 proteins increasing susceptibility toT-cell mediated cytotoxicity (By similarity). Regulates the plasmamembrane expression of the integrin heterodimers ITGA6-ITGB1,ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrixadhesion (PubMed:16216233). Also regulates many processes throughPTK2. Regulates blood vessel endothelial cell migration andangiogenesis by regulating VEGF protein expression through PTK2activation (PubMed:23439602). Regulates cell migration and cellcontraction through PTK2 and SRC activation (PubMed:21637765,PubMed:22728127). Regulates focal adhesion density, F-actinconformation and cell adhesion capacity through interaction withPTK2 (PubMed:19494199). Positively regulates cell proliferation(PubMed:24814193). Plays a role during cell death and cellblebbing (PubMed:12107182). Promotes angiogenesis andvasculogenesis through induction of VEGFA via a HIF1A-dependentpathway (PubMed:23334331). Also plays a role in embryoimplantation by regulating surface trafficking of integrinheterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role inglomerular filtration (By similarity).{ECO:0000250|UniProtKB:F1QIK8, ECO:0000250|UniProtKB:O88662,ECO:0000269|PubMed:12107182, ECO:0000269|PubMed:16216233,ECO:0000269|PubMed:16487956, ECO:0000269|PubMed:19494199,ECO:0000269|PubMed:21637765, ECO:0000269|PubMed:22728127,ECO:0000269|PubMed:23334331, ECO:0000269|PubMed:23439602,ECO:0000269|PubMed:24814193}. 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 EMP2_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 EMP2_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
EMP2EPM2AIP1, GLP1RSORL1LRPAP1, 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 EMP2_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 EMP2_SORL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEMP2C4014507NEPHROTIC SYNDROME, TYPE 101UNIPROT
TgeneSORL1C0008370Cholestasis1CTD_human
TgeneSORL1C0027626Neoplasm Invasiveness1CTD_human
TgeneSORL1C4277682Chemical and Drug Induced Liver Injury1CTD_human