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Fusion gene ID: 9110 |
FusionGeneSummary for CYBA_ELOVL5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CYBA_ELOVL5 | Fusion gene ID: 9110 | Hgene | Tgene | Gene symbol | CYBA | ELOVL5 | Gene ID | 1535 | 60481 |
| Gene name | cytochrome b-245 alpha chain | ELOVL fatty acid elongase 5 | |
| Synonyms | p22-PHOX | HELO1|SCA38|dJ483K16.1 | |
| Cytomap | 16q24.2 | 6p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytochrome b-245 light chaincytochrome b light chaincytochrome b(558) alpha chaincytochrome b(558) alpha-subunitcytochrome b, alpha polypeptidecytochrome b-245, alpha polypeptidecytochrome b558 subunit alphaflavocytochrome b-558 alpha polypeptiden | elongation of very long chain fatty acids protein 53-keto acyl-CoA synthase ELOVL5ELOVL FA elongase 5ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)fatty acid elongase 1homolog of yeast long chain polyun | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P13498 | Q9NYP7 | |
| Ensembl transtripts involved in fusion gene | ENST00000261623, ENST00000567174, ENST00000569359, ENST00000561972, | ENST00000370918, ENST00000304434, ENST00000542638, ENST00000541407, ENST00000486973, ENST00000370913, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 3 X 3 X 1=9 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CYBA [Title/Abstract] AND ELOVL5 [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 | CYBA | GO:0017004 | cytochrome complex assembly | 7938008 |
| Hgene | CYBA | GO:0032755 | positive regulation of interleukin-6 production | 22423966 |
| Hgene | CYBA | GO:0032760 | positive regulation of tumor necrosis factor production | 22423966 |
| Hgene | CYBA | GO:0034137 | positive regulation of toll-like receptor 2 signaling pathway | 22423966 |
| Hgene | CYBA | GO:0050766 | positive regulation of phagocytosis | 22423966 |
| Hgene | CYBA | GO:1900426 | positive regulation of defense response to bacterium | 22423966 |
| Hgene | CYBA | GO:1903428 | positive regulation of reactive oxygen species biosynthetic process | 22423966 |
| Tgene | ELOVL5 | GO:0034625 | fatty acid elongation, monounsaturated fatty acid | 20427700 |
| Tgene | ELOVL5 | GO:0034626 | fatty acid elongation, polyunsaturated fatty acid | 20427700|20937905 |
| Tgene | ELOVL5 | GO:0042761 | very long-chain fatty acid biosynthetic process | 20427700|20937905 |
| 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 | BM827569 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| * 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-5UTR | ENST00000261623 | ENST00000370918 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000261623 | ENST00000304434 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-intron | ENST00000261623 | ENST00000542638 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000261623 | ENST00000541407 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000261623 | ENST00000486973 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000261623 | ENST00000370913 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000567174 | ENST00000370918 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000567174 | ENST00000304434 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-intron | ENST00000567174 | ENST00000542638 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000567174 | ENST00000541407 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000567174 | ENST00000486973 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000567174 | ENST00000370913 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000569359 | ENST00000370918 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000569359 | ENST00000304434 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-intron | ENST00000569359 | ENST00000542638 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000569359 | ENST00000541407 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000569359 | ENST00000486973 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000569359 | ENST00000370913 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000561972 | ENST00000370918 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000561972 | ENST00000304434 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-intron | ENST00000561972 | ENST00000542638 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000561972 | ENST00000541407 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000561972 | ENST00000486973 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
| intron-5UTR | ENST00000561972 | ENST00000370913 | CYBA | chr16 | 88712556 | - | ELOVL5 | chr6 | 53213660 | - |
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FusionProtFeatures for CYBA_ELOVL5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CYBA | ELOVL5 |
| Critical component of the membrane-bound oxidase ofphagocytes that generates superoxide. Associates with NOX3 to forma functional NADPH oxidase constitutively generating superoxide.{ECO:0000269|PubMed:15824103}. |
| 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 CYBA_ELOVL5 |
| 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 CYBA_ELOVL5 |
| 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 |
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RelatedDrugs for CYBA_ELOVL5 |
| 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 CYBA_ELOVL5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CYBA | C1856255 | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative | 5 | CTD_human;UNIPROT |
| Hgene | CYBA | C0020538 | Hypertensive disease | 3 | CTD_human |
| Hgene | CYBA | C0011853 | Diabetes Mellitus, Experimental | 2 | CTD_human |
| Hgene | CYBA | C0004153 | Atherosclerosis | 1 | CTD_human |
| Hgene | CYBA | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | CYBA | C0018203 | Chronic granulomatous disease | 1 | CTD_human;ORPHANET |
| Hgene | CYBA | C0018799 | Heart Diseases | 1 | CTD_human |
| Hgene | CYBA | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Hgene | CYBA | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | CYBA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | CYBA | C1565489 | Renal Insufficiency | 1 | CTD_human |
| Tgene | ELOVL5 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ELOVL5 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | ELOVL5 | C4014812 | SPINOCEREBELLAR ATAXIA 38 | 1 | ORPHANET;UNIPROT |
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