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Fusion gene ID: 11578 |
FusionGeneSummary for EMP2_SORL1 |
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Fusion gene information | Fusion gene name: EMP2_SORL1 | Fusion gene ID: 11578 | Hgene | Tgene | Gene symbol | EMP2 | SORL1 | Gene ID | 2013 | 6653 |
Gene name | epithelial membrane protein 2 | sortilin related receptor 1 | |
Synonyms | XMP | C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250 | |
Cytomap | 16p13.13 | 11q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | epithelial membrane protein 2 | sortilin-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 date | 20180527 | 20180527 | |
UniProtAcc | P54851 | Q92673 | |
Ensembl transtripts involved in fusion gene | ENST00000359543, ENST00000566033, ENST00000536829, | ENST00000260197, ENST00000532451, ENST00000525532, ENST00000532694, ENST00000534286, ENST00000527934, | |
Fusion gene scores | * DoF score | 8 X 7 X 7=392 | 11 X 10 X 6=660 |
# samples | 9 | 10 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | EMP2 | GO:0001954 | positive regulation of cell-matrix adhesion | 16216233 |
Hgene | EMP2 | GO:0003093 | regulation of glomerular filtration | 24814193 |
Hgene | EMP2 | GO:0007015 | actin filament organization | 19494199 |
Hgene | EMP2 | GO:0007155 | cell adhesion | 19494199 |
Hgene | EMP2 | GO:0007160 | cell-matrix adhesion | 19494199 |
Hgene | EMP2 | GO:0008219 | cell death | 12107182 |
Hgene | EMP2 | GO:0008283 | cell proliferation | 21637765 |
Hgene | EMP2 | GO:0010594 | regulation of endothelial cell migration | 23334331 |
Hgene | EMP2 | GO:0016477 | cell migration | 21637765 |
Hgene | EMP2 | GO:0032060 | bleb assembly | 12107182 |
Hgene | EMP2 | GO:0032147 | activation of protein kinase activity | 21637765 |
Hgene | EMP2 | GO:0043534 | blood vessel endothelial cell migration | 23439602 |
Hgene | EMP2 | GO:0043549 | regulation of kinase activity | 18469192 |
Hgene | EMP2 | GO:0045765 | regulation of angiogenesis | 23334331 |
Hgene | EMP2 | GO:0070252 | actin-mediated cell contraction | 18469192|22728127 |
Hgene | EMP2 | GO:2001046 | positive regulation of integrin-mediated signaling pathway | 16216233 |
Hgene | EMP2 | GO:2001212 | regulation of vasculogenesis | 23334331 |
Tgene | SORL1 | GO:0006605 | protein targeting | 16407538 |
Tgene | SORL1 | GO:0006622 | protein targeting to lysosome | 24523320 |
Tgene | SORL1 | GO:0006892 | post-Golgi vesicle-mediated transport | 17855360 |
Tgene | SORL1 | GO:0014910 | regulation of smooth muscle cell migration | 14764453 |
Tgene | SORL1 | GO:0032091 | negative regulation of protein binding | 16407538 |
Tgene | SORL1 | GO:0034067 | protein localization to Golgi apparatus | 17855360 |
Tgene | SORL1 | GO:0045053 | protein retention in Golgi apparatus | 17855360 |
Tgene | SORL1 | GO:0045732 | positive regulation of protein catabolic process | 24523320 |
Tgene | SORL1 | GO:0051604 | protein maturation | 17855360 |
Tgene | SORL1 | GO:1902430 | negative regulation of amyloid-beta formation | 16407538|22621900 |
Tgene | SORL1 | GO:1902960 | negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process | 16407538 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | HNSC | TCGA-CX-7219-01A | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000359543 | ENST00000260197 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000359543 | ENST00000532451 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000359543 | ENST00000525532 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000359543 | ENST00000532694 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000359543 | ENST00000534286 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-5UTR | ENST00000359543 | ENST00000527934 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000566033 | ENST00000260197 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000566033 | ENST00000532451 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000566033 | ENST00000525532 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000566033 | ENST00000532694 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000566033 | ENST00000534286 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-5UTR | ENST00000566033 | ENST00000527934 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000536829 | ENST00000260197 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000536829 | ENST00000532451 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000536829 | ENST00000525532 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000536829 | ENST00000532694 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-intron | ENST00000536829 | ENST00000534286 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
intron-5UTR | ENST00000536829 | ENST00000527934 | EMP2 | chr16 | 10626061 | - | SORL1 | chr11 | 121461197 | + |
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FusionProtFeatures for EMP2_SORL1 |
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Hgene | Tgene |
EMP2 | SORL1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for EMP2_SORL1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
EMP2 | EPM2AIP1, GLP1R | SORL1 | LRPAP1, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EMP2_SORL1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EMP2_SORL1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EMP2 | C4014507 | NEPHROTIC SYNDROME, TYPE 10 | 1 | UNIPROT |
Tgene | SORL1 | C0008370 | Cholestasis | 1 | CTD_human |
Tgene | SORL1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Tgene | SORL1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |