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Fusion gene ID: 25412 |
FusionGeneSummary for OLFM2_PSENEN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: OLFM2_PSENEN | Fusion gene ID: 25412 | Hgene | Tgene | Gene symbol | OLFM2 | PSENEN | Gene ID | 93145 | 55851 |
| Gene name | olfactomedin 2 | presenilin enhancer, gamma-secretase subunit | |
| Synonyms | NOE2|NOELIN2|NOELIN2_V1|OlfC | ACNINV2|MDS033|MSTP064|PEN-2|PEN2 | |
| Cytomap | 19p13.2 | 19q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | noelin-2neuronal olfactomedin related ER localized protein 2 | gamma-secretase subunit PEN-2hematopoietic stem/progenitor cells protein MDS033presenilin enhancer 2 homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O95897 | Q9NZ42 | |
| Ensembl transtripts involved in fusion gene | ENST00000264833, ENST00000590841, | ENST00000587708, ENST00000591949, ENST00000222266, | |
| Fusion gene scores | * DoF score | 10 X 1 X 7=70 | 1 X 1 X 1=1 |
| # samples | 10 | 1 | |
| ** MAII score | log2(10/70*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: OLFM2 [Title/Abstract] AND PSENEN [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 | OLFM2 | GO:0009306 | protein secretion | 21228389 |
| Tgene | PSENEN | GO:0006509 | membrane protein ectodomain proteolysis | 15274632 |
| Tgene | PSENEN | GO:0016485 | protein processing | 15274632 |
| Tgene | PSENEN | GO:0042982 | amyloid precursor protein metabolic process | 25043039|26280335 |
| Tgene | PSENEN | GO:0043085 | positive regulation of catalytic activity | 15274632 |
| 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 | RV | STAD | TCGA-BR-7197-01A | OLFM2 | chr19 | 10046980 | - | PSENEN | chr19 | 36236736 | + |
| * 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 | ENST00000264833 | ENST00000587708 | OLFM2 | chr19 | 10046980 | - | PSENEN | chr19 | 36236736 | + |
| 5CDS-5UTR | ENST00000264833 | ENST00000591949 | OLFM2 | chr19 | 10046980 | - | PSENEN | chr19 | 36236736 | + |
| 5CDS-intron | ENST00000264833 | ENST00000222266 | OLFM2 | chr19 | 10046980 | - | PSENEN | chr19 | 36236736 | + |
| intron-5UTR | ENST00000590841 | ENST00000587708 | OLFM2 | chr19 | 10046980 | - | PSENEN | chr19 | 36236736 | + |
| intron-5UTR | ENST00000590841 | ENST00000591949 | OLFM2 | chr19 | 10046980 | - | PSENEN | chr19 | 36236736 | + |
| intron-intron | ENST00000590841 | ENST00000222266 | OLFM2 | chr19 | 10046980 | - | PSENEN | chr19 | 36236736 | + |
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FusionProtFeatures for OLFM2_PSENEN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| OLFM2 | PSENEN |
| Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation. TGF-beta induces expressionand translocation of OLFM2 to the nucleus where it binds to SRF,causing its dissociation from the transcriptional repressorHEY2/HERP1 and facilitating binding of SRF to target genes(PubMed:25298399). Plays a role in AMPAR complex organization (Bysimilarity). Is a regulator of vascular smooth-muscle cell (SMC)phenotypic switching, that acts by promoting RUNX2 and inhibitingMYOCD binding to SRF. SMC phenotypic switching is the processthrough which vascular SMCs undergo transition between a quiescentcontractile phenotype and a proliferative synthetic phenotype inresponse to pathological stimuli. SMC phenotypic plasticity isessential for vascular development and remodeling (By similarity).{ECO:0000250|UniProtKB:Q568Y7, ECO:0000250|UniProtKB:Q8BM13,ECO:0000269|PubMed:25298399}. | Essential subunit of the gamma-secretase complex, anendoprotease complex that catalyzes the intramembrane cleavage ofintegral membrane proteins such as Notch receptors and APP(amyloid-beta precursor protein) (PubMed:12522139,PubMed:12763021, PubMed:12740439, PubMed:12679784,PubMed:24941111). The gamma-secretase complex plays a role inNotch and Wnt signaling cascades and regulation of downstreamprocesses via its role in processing key regulatory proteins, andby regulating cytosolic CTNNB1 levels (Probable). PSENEN modulatesboth endoproteolysis of presenilin and gamma-secretase activity(PubMed:12522139, PubMed:12763021, PubMed:12740439,PubMed:12679784, PubMed:24941111). {ECO:0000269|PubMed:12522139,ECO:0000269|PubMed:12679784, ECO:0000269|PubMed:12740439,ECO:0000269|PubMed:12763021, ECO:0000269|PubMed:24941111,ECO:0000305}. |
| 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 OLFM2_PSENEN |
| 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 OLFM2_PSENEN |
| 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 |
| OLFM2 | SRSF5, ST13, BLOC1S6, KRTAP10-3, OLFM1, ZFHX4, RNF40, TUBB1, DVL2, FEM1B, OLFM3, KDM5C, MSTO1, LRIF1, ZSWIM8, CBY1, EGFL7, DTNB, SDF2L1, DPYSL4, METTL3, PEX6, GALNS, BMP7, ZNF507, C15orf39, FUT11, NCOR1, CTDNEP1, BANP, VCPIP1, USP54, GPATCH8, N4BP2L2, DNAJB9, HAUS8 | PSENEN | PSEN1, NCSTN, APH1A, PSEN2, APH1B, THBD, ERLIN2, GSAP, CREB3 |
| - 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 OLFM2_PSENEN |
| 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 OLFM2_PSENEN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PSENEN | C1840560 | Hidradenitis suppurativa, familial | 1 | CTD_human |
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