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Fusion gene ID: 27957 |
FusionGeneSummary for POLR2A_ALOX12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POLR2A_ALOX12 | Fusion gene ID: 27957 | Hgene | Tgene | Gene symbol | POLR2A | ALOX12 | Gene ID | 5430 | 239 |
| Gene name | RNA polymerase II subunit A | arachidonate 12-lipoxygenase, 12S type | |
| Synonyms | POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1 | 12-LOX|12S-LOX|LOG12 | |
| Cytomap | 17p13.1 | 17p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-directed RNA polymerase II subunit RPB1DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunitDNA-directed RNA polymerase II subunit ADNA-directed RNA polymerase III largest subunitRNA polymerase II subunit B1RNA-directed | arachidonate 12-lipoxygenase, 12S-type12S-lipoxygenaselipoxin synthase 12-LOplatelet 12-LOXplatelet-type 12-lipoxygenaseplatelet-type lipoxygenase 12 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P24928 | P18054 | |
| Ensembl transtripts involved in fusion gene | ENST00000322644, ENST00000572844, | ENST00000251535, | |
| Fusion gene scores | * DoF score | 6 X 4 X 4=96 | 2 X 2 X 2=8 |
| # samples | 7 | 2 | |
| ** MAII score | log2(7/96*10)=-0.45567948377619 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: POLR2A [Title/Abstract] AND ALOX12 [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 | POLR2A | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| Hgene | POLR2A | GO:0033120 | positive regulation of RNA splicing | 21536736 |
| Tgene | ALOX12 | GO:0019369 | arachidonic acid metabolic process | 1851637|8319693 |
| Tgene | ALOX12 | GO:0019372 | lipoxygenase pathway | 8319693 |
| Tgene | ALOX12 | GO:0043651 | linoleic acid metabolic process | 8319693 |
| Tgene | ALOX12 | GO:0043651 | linoleic acid metabolic process | 1851637 |
| Tgene | ALOX12 | GO:1901751 | leukotriene A4 metabolic process | 8250832 |
| Tgene | ALOX12 | GO:1901751 | leukotriene A4 metabolic process | 1851637 |
| Tgene | ALOX12 | GO:2001303 | lipoxin A4 biosynthetic process | 8250832 |
| Tgene | ALOX12 | GO:2001306 | lipoxin B4 biosynthetic process | 8250832 |
| 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 | BRCA | TCGA-A2-A1G1-01A | POLR2A | chr17 | 7388176 | + | ALOX12 | chr17 | 6902576 | + |
| * 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-intron | ENST00000322644 | ENST00000251535 | POLR2A | chr17 | 7388176 | + | ALOX12 | chr17 | 6902576 | + |
| 5CDS-intron | ENST00000572844 | ENST00000251535 | POLR2A | chr17 | 7388176 | + | ALOX12 | chr17 | 6902576 | + |
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FusionProtFeatures for POLR2A_ALOX12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POLR2A | ALOX12 |
| DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Largest and catalytic component of RNA polymerase IIwhich synthesizes mRNA precursors and many functional non-codingRNAs. Forms the polymerase active center together with the secondlargest subunit. Pol II is the central component of the basal RNApolymerase II transcription machinery. It is composed of mobileelements that move relative to each other. RPB1 is part of thecore element with the central large cleft, the clamp element thatmoves to open and close the cleft and the jaws that are thought tograb the incoming DNA template. At the start of transcription, asingle-stranded DNA template strand of the promoter is positionedwithin the central active site cleft of Pol II. A bridging helixemanates from RPB1 and crosses the cleft near the catalytic siteand is thought to promote translocation of Pol II by acting as aratchet that moves the RNA-DNA hybrid through the active site byswitching from straight to bent conformations at each step ofnucleotide addition. During transcription elongation, Pol II moveson the template as the transcript elongates. Elongation isinfluenced by the phosphorylation status of the C-terminal domain(CTD) of Pol II largest subunit (RPB1), which serves as a platformfor assembly of factors that regulate transcription initiation,elongation, termination and mRNA processing. Regulation of geneexpression levels depends on the balance between methylation andacetylation levels of tha CTD-lysines (By similarity). Initiationor early elongation steps of transcription of growth-factors-induced immediate early genes are regulated by the acetylationstatus of the CTD (PubMed:24207025). Methylation and dimethylationhave a repressive effect on target genes expression (Bysimilarity). {ECO:0000250|UniProtKB:P08775,ECO:0000269|PubMed:20231364, ECO:0000269|PubMed:23748380,ECO:0000269|PubMed:24207025, ECO:0000269|PubMed:9852112}. (Microbial infection) Acts as an RNA-dependent RNApolymerase when associated with small delta antigen of Hepatitisdelta virus, acting both as a replicate and transcriptase for theviral RNA circular genome. {ECO:0000269|PubMed:18032511}. | Non-heme iron-containing dioxygenase that catalyzes thestereo-specific peroxidation of free and esterifiedpolyunsaturated fatty acids generating a spectrum of bioactivelipid mediators. Mainly converts arachidonic acid to (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE but can alsometabolize linoleic acid. Has a dual activity since it alsoconverts leukotriene A4/LTA4 into both the bioactive lipoxinA4/LXA4 and lipoxin B4/LXB4. Through the production of specificbioactive lipids like (12S)-HPETE it regulates differentbiological processes including platelet activation. It alsoprobably positively regulates angiogenesis through regulation ofthe expression of the vascular endothelial growth factor. Plays arole in apoptotic process, promoting the survival of vascularsmooth muscle cells for instance. May also play a role in thecontrol of cell migration and proliferation.{ECO:0000269|PubMed:16638750, ECO:0000269|PubMed:22237009,ECO:0000269|PubMed:23578768, ECO:0000269|PubMed:8250832,ECO:0000269|PubMed:9751607}. |
| 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 POLR2A_ALOX12 |
| 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 POLR2A_ALOX12 |
| 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 |
| POLR2A | BRCA1, MED21, MDC1, CTDP1, GTF2B, NELFA, TBP, TAF11, GTF2E1, GTF2F1, GTF2H4, SMYD3, MED10, MED9, MED29, MED19, MED28, MED26, CCNL2, TCEA1, CTDSP1, CTDSP2, GTF2E2, NELFE, SMARCB1, SMARCA4, SMARCA2, CDK8, CREBBP, KAT2B, EP300, TCERG1, POLR2H, POLR2L, POLR2C, POLR2E, POLR2G, POLR2F, POLR2K, CCNK, HTATSF1, SUPT5H, ELP3, NR0B2, PCIF1, ZNF74, XAB2, SND1, PIN1, GTF2F2, HNRNPU, PQBP1, CSH2, VHL, EGLN2, EGLN1, NEDD4, UBE2L3, CDC73, MED1, MED30, RECQL5, RPAP2, GPN1, RPAP3, AIRE, PAF1, POLR2B, POLR2I, POLR2J, SSRP1, SUPT6H, IWS1, ATF7IP, CTCF, MEN1, DDX5, AGO1, CDK9, NFKB1, KMT2A, KMT2D, SETD2, CBX3, ITCH, NF1, VDR, RXRA, H2AFX, TAF10, SETD1A, SETD1B, WAC, ESR1, INTS1, INTS3, INTS5, INTS6, ZC3H13, TRIP4, OBFC1, QKI, WDR82, TADA2A, ERCC6, MYC, TAF15, SUB1, CDK7, LEO1, CDKN1A, AFF1, POLR2D, CDC14A, GRB2, CCNT1, XRCC5, INTS10, CPSF3L, ACTB, CABIN1, UBN1, HIRA, PHF8, SMC1A, SMC3, MCM3, MCM7, GTF2I, PCNA, ELAVL1, SIRT7, PSMB9, BRINP1, ZNF326, MLLT1, DHX9, EWSR1, HMGN1, ERCC8, DDB1, GPS1, ERCC4, ERCC3, ERCC5, ERCC1, XPA, RPA1, NEURL4, CUL5, CUL2, DCUN1D1, CAND1, YAP1, U2AF2, PRPF19, CSTF1, CSTF2, CSTF3, CPSF1, CPSF3, CPSF2, POLR2A, GTF2H1, CSNK2A1, MYO6, ILF3, RUVBL2, DCTN2, RPS20, SMEK1, ATP6V1B2, RALBP1, NELFB, CCNH, BARD1, RAD52, MNAT1, NSMF, GTF2A2, MCM2, PPP1CA, HDAC11, DNMT3B, DNMT3A, IRF3, RELA, WWOX, MAP4, EHBP1L1, HNRNPR, MTA2, PPP4R1, WDHD1, SSU72, ERG, HIST1H1C, LGR4, XRN2, IVNS1ABP, ATM, SRC, TCEB3, SMURF1, MOV10, NXF1, USPL1, HIST2H2BE, CUL7, OBSL1, CCDC8, EED, SNAR-B2, GPN3, PIH1D1, RPRD1B, NFKBIA, POLR2M, UNK, EEF1A1, EEF1A2, EEFSEC, GTF3C3, POLR3A, POLR3B, PSMA5, PSMA6, SRRT, SRSF2, SUPT4H1, UBE3B, TTK, CDK2, NTRK1, MBD2, IFI16, MED4, MED20, MED23, TCTN3, CEP128, XPO1, CTR9, NABP1, VWA9, CREB1, NSD1, SMN1, TDRD3, PRMT5, SETX, ZNF131, VCP, EGFR, RNGTT, LMO2, ASB6, CPNE2, SYDE1, UXT, COLQ, MED18, GPR156, WWP2, C7orf60, ZNHIT2, INO80B, URI1, WDR92, SREBF1 | ALOX12 | LMNA, ITGB4, TRIB1, KRT5, ALOX12, ACTA2, PLA2G4A, PLA2G2A |
| - 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 POLR2A_ALOX12 |
| 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 POLR2A_ALOX12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ALOX12 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | ALOX12 | C0020429 | Hyperalgesia | 1 | CTD_human |
| Tgene | ALOX12 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Tgene | ALOX12 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | ALOX12 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | ALOX12 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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