|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 11535 |
FusionGeneSummary for EMILIN1_ARG2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EMILIN1_ARG2 | Fusion gene ID: 11535 | Hgene | Tgene | Gene symbol | EMILIN1 | ARG2 | Gene ID | 11117 | 384 |
| Gene name | elastin microfibril interfacer 1 | arginase 2 | |
| Synonyms | EMI|EMILIN|gp115 | - | |
| Cytomap | 2p23.3 | 14q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | EMILIN-1elastin microfibril interface-located protein 1 | arginase-2, mitochondrialL-arginine amidinohydrolaseL-arginine ureahydrolasearginase IIarginase, type IIkidney arginasekidney-type arginasenon-hepatic arginasenonhepatic arginasetype II arginase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6C2 | P78540 | |
| Ensembl transtripts involved in fusion gene | ENST00000380320, | ENST00000261783, ENST00000556491, | |
| Fusion gene scores | * DoF score | 3 X 4 X 1=12 | 5 X 4 X 5=100 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EMILIN1 [Title/Abstract] AND ARG2 [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 |
| Tgene | ARG2 | GO:2000774 | positive regulation of cellular senescence | 22928666 |
| 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 |
| ChiTaRS3.1 | AI656563 | EMILIN1 | chr2 | 27309108 | - | ARG2 | chr14 | 68116886 | + |
| * 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 |
| 3UTR-intron | ENST00000380320 | ENST00000261783 | EMILIN1 | chr2 | 27309108 | - | ARG2 | chr14 | 68116886 | + |
| 3UTR-intron | ENST00000380320 | ENST00000556491 | EMILIN1 | chr2 | 27309108 | - | ARG2 | chr14 | 68116886 | + |
Top |
FusionProtFeatures for EMILIN1_ARG2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EMILIN1 | ARG2 |
| May be responsible for anchoring smooth muscle cells toelastic fibers, and may be involved not only in the formation ofthe elastic fiber, but also in the processes that regulate vesselassembly. Has cell adhesive capacity. | May play a role in the regulation of extra-urea cyclearginine metabolism and also in down-regulation of nitric oxidesynthesis. Extrahepatic arginase functions to regulate L-argininebioavailability to nitric oxid synthase (NOS). Arginine metabolismis a critical regulator of innate and adaptive immune responses.Seems to be involved in negative regulation of the survivalcapacity of activated CD4(+) and CD8(+) T cells (PubMed:27745970).May suppress inflammation-related signaling in asthmatic airwayepithelium (PubMed:27214549). May contribute to the immune evasionof H.pylori by restricting M1 macrophage activation and polyaminemetabolism (By similarity). In fetal dendritic cells may play arole in promoting immune suppression and T cell TNF-alphaproduction during gestation (PubMed:28614294). Regulates RPS6KB1signaling, which promotes endothelial cell senescence andinflammation and implicates NOS3/eNOS dysfunction(PubMed:22928666). Can inhibit endothelial autophagy independentlyof its enzymatic activity implicating mTORC2 signaling(PubMed:25484082). Involved in vascular smooth muscle cellsenescence and apoptosis independently of its enzymatic activity(PubMed:23832324). Since NOS is found in the penile corpuscavernosum smooth muscle, the clitoral corpus cavernosum and thevagina, arginase-2 plays a role in both male and female sexualarousal (PubMed:12859189). {ECO:0000250|UniProtKB:O08691,ECO:0000269|PubMed:12859189, ECO:0000269|PubMed:22928666,ECO:0000269|PubMed:23832324, ECO:0000269|PubMed:25484082,ECO:0000269|PubMed:27214549, ECO:0000269|PubMed:27745970}. |
| 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 |
Top |
FusionGeneSequence for EMILIN1_ARG2 |
| 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). |
Top |
FusionGenePPI for EMILIN1_ARG2 |
| 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 |
| - 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 |
Top |
RelatedDrugs for EMILIN1_ARG2 |
| 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 |
| Tgene | ARG2 | P78540 | DB00125 | L-Arginine | Arginase-2, mitochondrial | small molecule | approved|nutraceutical |
Top |
RelatedDiseases for EMILIN1_ARG2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ARG2 | C0004096 | Asthma | 1 | CTD_human |
| Tgene | ARG2 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| Tgene | ARG2 | C0027540 | Necrosis | 1 | CTD_human |
| Tgene | ARG2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | ARG2 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|