|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 11496 |
FusionGeneSummary for ELOVL7_DSE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ELOVL7_DSE | Fusion gene ID: 11496 | Hgene | Tgene | Gene symbol | ELOVL7 | DSE | Gene ID | 79993 | 29940 |
| Gene name | ELOVL fatty acid elongase 7 | dermatan sulfate epimerase | |
| Synonyms | - | DS-epi1|DSEP|DSEPI|EDSMC2|SART-2|SART2 | |
| Cytomap | 5q12.1 | 6q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | elongation of very long chain fatty acids protein 73-keto acyl-CoA synthase ELOVL7ELOVL FA elongase 7ELOVL family member 7, elongation of long chain fatty acidsvery long chain 3-ketoacyl-CoA synthase 7very long chain 3-oxoacyl-CoA synthase 7 | dermatan-sulfate epimeraseDS epimerasechondroitin-glucuronate 5-epimerasesquamous cell carcinoma antigen recognized by T-cells 2 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | A1L3X0 | Q9UL01 | |
| Ensembl transtripts involved in fusion gene | ENST00000508821, ENST00000425382, ENST00000438340, ENST00000505959, | ENST00000540275, ENST00000452085, ENST00000537543, ENST00000331677, ENST00000359564, ENST00000606265, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 5 X 2=40 |
| # samples | 2 | 5 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ELOVL7 [Title/Abstract] AND DSE [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 | ELOVL7 | GO:0019367 | fatty acid elongation, saturated fatty acid | 19826053 |
| Hgene | ELOVL7 | GO:0034626 | fatty acid elongation, polyunsaturated fatty acid | 20937905 |
| Hgene | ELOVL7 | GO:0042761 | very long-chain fatty acid biosynthetic process | 19826053|20937905 |
| Tgene | DSE | GO:0030208 | dermatan sulfate biosynthetic process | 16505484 |
| 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 | BQ340167 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| * 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 |
| intron-intron | ENST00000508821 | ENST00000540275 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000508821 | ENST00000452085 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000508821 | ENST00000537543 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000508821 | ENST00000331677 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000508821 | ENST00000359564 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000508821 | ENST00000606265 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000425382 | ENST00000540275 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000425382 | ENST00000452085 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000425382 | ENST00000537543 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000425382 | ENST00000331677 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000425382 | ENST00000359564 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000425382 | ENST00000606265 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000438340 | ENST00000540275 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000438340 | ENST00000452085 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000438340 | ENST00000537543 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000438340 | ENST00000331677 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000438340 | ENST00000359564 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000438340 | ENST00000606265 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000505959 | ENST00000540275 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000505959 | ENST00000452085 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000505959 | ENST00000537543 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000505959 | ENST00000331677 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000505959 | ENST00000359564 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
| intron-intron | ENST00000505959 | ENST00000606265 | ELOVL7 | chr5 | 60128856 | + | DSE | chr6 | 116599354 | - |
Top |
FusionProtFeatures for ELOVL7_DSE |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELOVL7 | DSE |
| Catalyzes the first and rate-limiting reaction of thefour that constitute the long-chain fatty acids elongation cycle.This endoplasmic reticulum-bound enzymatic process, allows theaddition of 2 carbons to the chain of long- and very long-chainfatty acids/VLCFAs per cycle. Condensing enzyme with higheractivity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs andC18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-,C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or noactivity toward C22:0-, C24:0-, or C26:0-CoAs. May participate inthe production of saturated and polyunsaturated VLCFAs ofdifferent chain lengths that are involved in multiple biologicalprocesses as precursors of membrane lipids and lipid mediators.{ECO:0000255|HAMAP-Rule:MF_03207, ECO:0000269|PubMed:19826053,ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:21959040}. | Converts D-glucuronic acid to L-iduronic acid (IdoUA)residues. {ECO:0000269|PubMed:16505484}. |
| 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 ELOVL7_DSE |
| 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 ELOVL7_DSE |
| 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 ELOVL7_DSE |
| 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 |
Top |
RelatedDiseases for ELOVL7_DSE |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DSE | C3809845 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|