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Fusion gene ID: 37122 |
FusionGeneSummary for TAF6L_PCYT1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TAF6L_PCYT1A | Fusion gene ID: 37122 | Hgene | Tgene | Gene symbol | TAF6L | PCYT1A | Gene ID | 10629 | 5130 |
| Gene name | TATA-box binding protein associated factor 6 like | phosphate cytidylyltransferase 1, choline, alpha | |
| Synonyms | PAF65A | CCTA|CT|CTA|CTPCT|PCYT1|SMDCRD | |
| Cytomap | 11q12.3 | 3q29 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6LPAF65-alphaPCAF-associated factor 65-alphaTAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDap300/CBP-associated factor (PCAF | choline-phosphate cytidylyltransferase ACCT ACCT-alphaCT ACTP:phosphocholine cytidylyltransferase Aphosphorylcholine transferase A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6J9 | P49585 | |
| Ensembl transtripts involved in fusion gene | ENST00000294168, | ENST00000419333, ENST00000292823, ENST00000431016, ENST00000491544, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 6 X 6 X 5=180 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TAF6L [Title/Abstract] AND PCYT1A [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 | TAF6L | GO:0043966 | histone H3 acetylation | 11564863 |
| 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 | RV | ACC | TCGA-OR-A5JM-01A | TAF6L | chr11 | 62538962 | + | PCYT1A | chr3 | 195969511 | - |
| * 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 |
| 5UTR-3CDS | ENST00000294168 | ENST00000419333 | TAF6L | chr11 | 62538962 | + | PCYT1A | chr3 | 195969511 | - |
| 5UTR-3CDS | ENST00000294168 | ENST00000292823 | TAF6L | chr11 | 62538962 | + | PCYT1A | chr3 | 195969511 | - |
| 5UTR-3CDS | ENST00000294168 | ENST00000431016 | TAF6L | chr11 | 62538962 | + | PCYT1A | chr3 | 195969511 | - |
| 5UTR-intron | ENST00000294168 | ENST00000491544 | TAF6L | chr11 | 62538962 | + | PCYT1A | chr3 | 195969511 | - |
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FusionProtFeatures for TAF6L_PCYT1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TAF6L | PCYT1A |
| Functions as a component of the PCAF complex. The PCAFcomplex is capable of efficiently acetylating histones in anucleosomal context. The PCAF complex could be considered as thehuman version of the yeast SAGA complex. | Controls phosphatidylcholine synthesis. |
| 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 TAF6L_PCYT1A |
| 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 TAF6L_PCYT1A |
| 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 |
| TAF6L | STX11, SUPT3H, TAF9, USP22, TAF10, CREBBP, KAT2B, VCP, SOX2, MYOG, PASK, TAF9B, HIST3H3, CCDC8, SPINT2, HLA-DPA1, TADA1, TADA2B, TADA3, NTRK1, MED23, CCDC101, ATXN7, SUPT7L, TAF12, TAF5L, SUPT20H, KAT2A, TRRAP, STIP1, HSPA8, RFX3, HDAC1, XYLT2, ATXN7L3, ATXN7L3B | PCYT1A | BARD1, PDIA6, S100A13, NMNAT1, CEP170, CEP170P1, GPRC5C, IP6K3, TMEM206, STX11 |
| - 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 TAF6L_PCYT1A |
| 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 | PCYT1A | P49585 | DB00122 | Choline | Choline-phosphate cytidylyltransferase A | small molecule | approved|nutraceutical |
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RelatedDiseases for TAF6L_PCYT1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PCYT1A | C1837073 | Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | 2 | ORPHANET;UNIPROT |
| Tgene | PCYT1A | C0080178 | Spina Bifida | 1 | CTD_human |
| Tgene | PCYT1A | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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