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Fusion gene ID: 11577 |
FusionGeneSummary for EMP2_SNN |
Fusion gene summary |
Fusion gene information | Fusion gene name: EMP2_SNN | Fusion gene ID: 11577 | Hgene | Tgene | Gene symbol | EMP2 | SNN | Gene ID | 2013 | 8303 |
Gene name | epithelial membrane protein 2 | stannin | |
Synonyms | XMP | - | |
Cytomap | 16p13.13 | 16p13.13 | |
Type of gene | protein-coding | protein-coding | |
Description | epithelial membrane protein 2 | stanninAG8_1 | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P54851 | O75324 | |
Ensembl transtripts involved in fusion gene | ENST00000359543, ENST00000566033, ENST00000536829, | ENST00000329565, | |
Fusion gene scores | * DoF score | 8 X 7 X 7=392 | 2 X 2 X 2=8 |
# samples | 9 | 3 | |
** MAII score | log2(9/392*10)=-2.12285674778553 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/8*10)=1.90689059560852 | |
Context | PubMed: EMP2 [Title/Abstract] AND SNN [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
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 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | CESC | TCGA-DG-A2KH-01A | EMP2 | chr16 | 10641397 | - | SNN | chr16 | 11769831 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000359543 | ENST00000329565 | EMP2 | chr16 | 10641397 | - | SNN | chr16 | 11769831 | + |
intron-5UTR | ENST00000566033 | ENST00000329565 | EMP2 | chr16 | 10641397 | - | SNN | chr16 | 11769831 | + |
5CDS-5UTR | ENST00000536829 | ENST00000329565 | EMP2 | chr16 | 10641397 | - | SNN | chr16 | 11769831 | + |
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FusionProtFeatures for EMP2_SNN |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
EMP2 | SNN |
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}. | Plays a role in the toxic effects of organotins(PubMed:15269288). Plays a role in endosomal maturation(PubMed:27015288). {ECO:0000269|PubMed:15269288,ECO:0000269|PubMed:27015288}. |
Retention 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 . * 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_SNN |
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_SNN |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
EMP2 | EPM2AIP1, GLP1R | SNN | BAG3, MTDH, TMX1, TES, C1orf131, TRIM25 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EMP2_SNN |
Drugs targeting genes involved in this fusion gene. (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_SNN |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EMP2 | C4014507 | NEPHROTIC SYNDROME, TYPE 10 | 1 | UNIPROT |