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Fusion gene ID: 26472 |
FusionGeneSummary for PDHB_RUFY3 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PDHB_RUFY3 |
![]() (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 |
![]() (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 |