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Fusion gene ID: 26478 |
FusionGeneSummary for PDHX_KDM6A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDHX_KDM6A | Fusion gene ID: 26478 | Hgene | Tgene | Gene symbol | PDHX | KDM6A | Gene ID | 8050 | 7403 |
| Gene name | pyruvate dehydrogenase complex component X | lysine demethylase 6A | |
| Synonyms | DLDBP|E3BP|OPDX|PDHXD|PDX1|proX | KABUK2|UTX|bA386N14.2 | |
| Cytomap | 11p13 | Xp11.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pyruvate dehydrogenase protein X component, mitochondrialdihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complexlipoyl-containing pyruvate dehydrogenase complex component Xpyruvate dehydrogenase complex, E3-binding protein subu | lysine-specific demethylase 6AbA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))histone demethylase UTXlysine (K)-specific demethylase 6Aubiquitously transcribed tetratricopeptide repeat protein X-linkedubiquito | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O00330 | O15550 | |
| Ensembl transtripts involved in fusion gene | ENST00000448838, ENST00000227868, ENST00000430469, ENST00000477173, | ENST00000377967, ENST00000382899, ENST00000536777, ENST00000543216, ENST00000479423, | |
| Fusion gene scores | * DoF score | 9 X 9 X 5=405 | 5 X 5 X 5=125 |
| # samples | 12 | 5 | |
| ** MAII score | log2(12/405*10)=-1.75488750216347 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/125*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDHX [Title/Abstract] AND KDM6A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| 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 | BRCA | TCGA-BH-A0BF-01A | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| * 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-3CDS | ENST00000448838 | ENST00000377967 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3CDS | ENST00000448838 | ENST00000382899 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3CDS | ENST00000448838 | ENST00000536777 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3CDS | ENST00000448838 | ENST00000543216 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3UTR | ENST00000448838 | ENST00000479423 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000227868 | ENST00000377967 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000227868 | ENST00000382899 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000227868 | ENST00000536777 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000227868 | ENST00000543216 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| 5CDS-3UTR | ENST00000227868 | ENST00000479423 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000430469 | ENST00000377967 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000430469 | ENST00000382899 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000430469 | ENST00000536777 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| Frame-shift | ENST00000430469 | ENST00000543216 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| 5CDS-3UTR | ENST00000430469 | ENST00000479423 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3CDS | ENST00000477173 | ENST00000377967 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3CDS | ENST00000477173 | ENST00000382899 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3CDS | ENST00000477173 | ENST00000536777 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3CDS | ENST00000477173 | ENST00000543216 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
| intron-3UTR | ENST00000477173 | ENST00000479423 | PDHX | chr11 | 34938362 | + | KDM6A | chrX | 44966655 | + |
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FusionProtFeatures for PDHX_KDM6A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDHX | KDM6A |
| Required for anchoring dihydrolipoamide dehydrogenase(E3) to the dihydrolipoamide transacetylase (E2) core of thepyruvate dehydrogenase complexes of eukaryotes. This specificbinding is essential for a functional PDH complex. | Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code(PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylatestrimethylated and dimethylated but not monomethylated H3 'Lys-27'(PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays acentral role in regulation of posterior development, by regulatingHOX gene expression (PubMed:17851529). Demethylation of 'Lys-27'of histone H3 is concomitant with methylation of 'Lys-4' ofhistone H3, and regulates the recruitment of the PRC1 complex andmonoubiquitination of histone H2A (PubMed:17761849). Plays ademethylase-independent role in chromatin remodeling to regulateT-box family member-dependent gene expression (By similarity).{ECO:0000250|UniProtKB:O70546, ECO:0000269|PubMed:17713478,ECO:0000269|PubMed:17761849, ECO:0000269|PubMed:17851529,ECO:0000269|PubMed:18003914}. |
| 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 PDHX_KDM6A |
| 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 PDHX_KDM6A |
| 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 |
| PDHX | EWSR1, DLAT, PDK2, PDHB, PDHA1, OGDH, EIF3C, SLC25A3, ABCC1, MARC1, ACTN1, LGR4, CDKN1A, AGTRAP, NXF1, EP300, NEUROD1, DLD, PDK1, LGALS3, CS, STAT5A, STAT5B, HDAC6, NF2, HSD17B10, PDK3, FOXD4, MTIF2, PREPL | KDM6A | TLE1, KMT2D, KMT2C, NCOA6, N4BP2, PAXIP1, PPP6R3, ZNF281, PROSER1, ASH2L, RBBP5, WDR5, HIST3H3, WDR82, HIST1H3A, SRF, TBX5, NKX2-5, GATA4, SMARCA4, HIST2H3C, SMAD9, TP53, MAFA, MAFB, RNF2, ATM, MSH6, FNTA, PTEN, EYA2, ARHGAP22, FOXA1 |
| - 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 PDHX_KDM6A |
| 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 PDHX_KDM6A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDHX | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
| Tgene | KDM6A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | KDM6A | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Tgene | KDM6A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | KDM6A | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
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