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Fusion gene ID: 26472 |
FusionGeneSummary for PDHB_RUFY3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDHB_RUFY3 | Fusion gene ID: 26472 | Hgene | Tgene | Gene symbol | PDHB | RUFY3 | Gene ID | 5162 | 79443 |
| Gene name | pyruvate dehydrogenase E1 beta subunit | FYVE and coiled-coil domain containing 1 | |
| Synonyms | PDHBD|PDHE1-B|PDHE1B|PHE1B | CATC2|CTRCT18|RUFY3|ZFYVE7 | |
| Cytomap | 3p14.3 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pyruvate dehydrogenase E1 component subunit beta, mitochondrialpyruvate dehydrogenase (lipoamide) betapyruvate dehydrogenase, E1 beta polypeptide | FYVE and coiled-coil domain-containing protein 1RUN and FYVE domain containing 3zinc finger FYVE domain-containing protein 7 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P11177 | Q7L099 | |
| Ensembl transtripts involved in fusion gene | ENST00000302746, ENST00000485460, ENST00000474765, | ENST00000417478, ENST00000381006, ENST00000226328, ENST00000536664, ENST00000502653, ENST00000512331, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 3 X 3=27 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PDHB [Title/Abstract] AND RUFY3 [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 | PDHB | GO:0006086 | acetyl-CoA biosynthetic process from pyruvate | 19081061 |
| Hgene | PDHB | GO:0006099 | tricarboxylic acid cycle | 19081061 |
| 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 | BF747570 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + | ||
| ChiTaRS3.1 | BF747731 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| * 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-intron | ENST00000302746 | ENST00000417478 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000302746 | ENST00000381006 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000302746 | ENST00000226328 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000302746 | ENST00000536664 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000302746 | ENST00000502653 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000302746 | ENST00000512331 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000485460 | ENST00000417478 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000485460 | ENST00000381006 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000485460 | ENST00000226328 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000485460 | ENST00000536664 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000485460 | ENST00000502653 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000485460 | ENST00000512331 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000474765 | ENST00000417478 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000474765 | ENST00000381006 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000474765 | ENST00000226328 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000474765 | ENST00000536664 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000474765 | ENST00000502653 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
| intron-intron | ENST00000474765 | ENST00000512331 | PDHB | chr3 | 58415954 | + | RUFY3 | chr4 | 71671497 | + |
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FusionProtFeatures for PDHB_RUFY3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDHB | RUFY3 |
| The pyruvate dehydrogenase complex catalyzes the overallconversion of pyruvate to acetyl-CoA and CO(2), and thereby linksthe glycolytic pathway to the tricarboxylic cycle.{ECO:0000269|PubMed:17474719, ECO:0000269|PubMed:19081061}. | Plays a role in the generation of neuronal polarityformation and axon growth (By similarity). Implicated in theformation of a single axon by developing neurons (By similarity).May inhibit the formation of additional axons by inhibition ofPI3K in minor neuronal processes (By similarity). Plays a role inthe formation of F-actin-enriched protrusive structures at thecell periphery (PubMed:25766321). Plays a role in cytoskeletalorganization by regulating the subcellular localization of FSCN1and DBN1 at axonal growth cones (By similarity). Promotes gastriccancer cell migration and invasion in a PAK1-dependent manner(PubMed:25766321). {ECO:0000250|UniProtKB:Q5FVJ0,ECO:0000250|UniProtKB:Q9D394, ECO:0000269|PubMed:25766321}. |
| 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 PDHB_RUFY3 |
| 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 PDHB_RUFY3 |
| 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 PDHB_RUFY3 |
| 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 PDHB_RUFY3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDHB | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | PDHB | C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | 1 | CTD_human |
| Hgene | PDHB | C3279841 | Pyruvate Dehydrogenase E1-Beta Deficiency | 1 | ORPHANET;UNIPROT |
| Tgene | RUFY3 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | RUFY3 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
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