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Fusion gene ID: 27426 |
FusionGeneSummary for PLA2G12A_ELOVL6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLA2G12A_ELOVL6 | Fusion gene ID: 27426 | Hgene | Tgene | Gene symbol | PLA2G12A | ELOVL6 | Gene ID | 81579 | 79071 |
| Gene name | phospholipase A2 group XIIA | ELOVL fatty acid elongase 6 | |
| Synonyms | GXII|PLA2G12|ROSSY | FACE|FAE|LCE | |
| Cytomap | 4q25 | 4q25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | group XIIA secretory phospholipase A2GXII sPLA2group XII secreted phospholipase A2group XIIA secreted phospholipase A2phosphatidylcholine 2-acylhydrolase 12Aphospholipase A2, group XIIsPLA2-XII | elongation of very long chain fatty acids protein 63-keto acyl-CoA synthase ELOVL6ELOVL FA elongase 6ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)fatty acid elongase 2fatty acyl-CoA elongasehELO2long | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9BZM1 | Q9H5J4 | |
| Ensembl transtripts involved in fusion gene | ENST00000243501, ENST00000502283, ENST00000502772, | ENST00000394607, ENST00000302274, ENST00000506461, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PLA2G12A [Title/Abstract] AND ELOVL6 [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 | ELOVL6 | GO:0019367 | fatty acid elongation, saturated fatty acid | 20937905 |
| Tgene | ELOVL6 | GO:0042759 | long-chain fatty acid biosynthetic process | 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 |
| TCGA | LD | BLCA | TCGA-ZF-A9RF-01A | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| * 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 |
| Frame-shift | ENST00000243501 | ENST00000394607 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| Frame-shift | ENST00000243501 | ENST00000302274 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| 5CDS-5UTR | ENST00000243501 | ENST00000506461 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| Frame-shift | ENST00000502283 | ENST00000394607 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| Frame-shift | ENST00000502283 | ENST00000302274 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| 5CDS-5UTR | ENST00000502283 | ENST00000506461 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| intron-3CDS | ENST00000502772 | ENST00000394607 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| intron-3CDS | ENST00000502772 | ENST00000302274 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
| intron-5UTR | ENST00000502772 | ENST00000506461 | PLA2G12A | chr4 | 110650758 | - | ELOVL6 | chr4 | 110980910 | - |
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FusionProtFeatures for PLA2G12A_ELOVL6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLA2G12A | ELOVL6 |
| PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectableactivity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine.{ECO:0000269|PubMed:12522102}. | 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 that elongatesfatty acids with 12, 14 and 16 carbons with higher activity towardC16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 longchain fatty acids and, to a lesser extent, C18:0 and those withlow desaturation degree. May participate in the production ofsaturated and monounsaturated VLCFAs of different chain lengthsthat are involved in multiple biological processes as precursorsof membrane lipids and lipid mediators. {ECO:0000255|HAMAP-Rule:MF_03206, ECO:0000269|PubMed:20937905}. |
| 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 PLA2G12A_ELOVL6 |
| 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 PLA2G12A_ELOVL6 |
| 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 |
| PLA2G12A | RPS6, UCK1, RB1, UMPS, RPS15, YWHAG, TMEM37, DVL2, MEF2C, EPB41L3, PXDN, TRIM25 | ELOVL6 | CERS2, 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 PLA2G12A_ELOVL6 |
| 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 PLA2G12A_ELOVL6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLA2G12A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ELOVL6 | C0018801 | Heart failure | 1 | CTD_human |
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