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Fusion gene ID: 7224 |
FusionGeneSummary for CIAPIN1_PDHA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CIAPIN1_PDHA2 | Fusion gene ID: 7224 | Hgene | Tgene | Gene symbol | CIAPIN1 | PDHA2 | Gene ID | 57019 | 5161 |
| Gene name | cytokine induced apoptosis inhibitor 1 | pyruvate dehydrogenase E1 alpha 2 subunit | |
| Synonyms | Anamorsin|CIAE2|DRE2|PRO0915 | PDHAL | |
| Cytomap | 16q21 | 4q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | anamorsinfe-S cluster assembly protein DRE2 homologpredicted protein of HQ0915 | pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrialPDHE1-A type IIpyruvate dehydrogenase (lipoamide) alpha 2pyruvate dehydrogenase alpha 2pyruvate dehydrogenase, E1-alpha polypeptide, testis specific | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q6FI81 | P29803 | |
| Ensembl transtripts involved in fusion gene | ENST00000394391, ENST00000567518, ENST00000565961, ENST00000569370, ENST00000568940, ENST00000569979, ENST00000569246, | ENST00000295266, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CIAPIN1 [Title/Abstract] AND PDHA2 [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 |
| Tgene | PDHA2 | GO:0006090 | pyruvate metabolic process | 16436377 |
| 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 | AI393336 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
| * 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 | ENST00000394391 | ENST00000295266 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
| intron-3CDS | ENST00000567518 | ENST00000295266 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
| intron-3CDS | ENST00000565961 | ENST00000295266 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
| intron-3CDS | ENST00000569370 | ENST00000295266 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
| intron-3CDS | ENST00000568940 | ENST00000295266 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
| intron-3CDS | ENST00000569979 | ENST00000295266 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
| intron-3CDS | ENST00000569246 | ENST00000295266 | CIAPIN1 | chr16 | 57462595 | + | PDHA2 | chr4 | 96761833 | - |
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FusionProtFeatures for CIAPIN1_PDHA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CIAPIN1 | PDHA2 |
| Component of the cytosolic iron-sulfur (Fe-S) proteinassembly (CIA) machinery required for the maturation ofextramitochondrial Fe-S proteins. Part of an electron transferchain functioning in an early step of cytosolic Fe-S biogenesis,facilitating the de novo assembly of a [4Fe-4S] cluster on thescaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1from NADPH via the FAD- and FMN-containing protein NDOR1(PubMed:23596212). NDOR1-CIAPIN1 are also required for theassembly of the diferric tyrosyl radical cofactor ofribonucleotide reductase (RNR), probably by providing electronsfor reduction during radical cofactor maturation in the catalyticsmall subunit (By similarity). Has anti-apoptotic effects in thecell. Involved in negative control of cell death upon cytokinewithdrawal. Promotes development of hematopoietic cells (Bysimilarity). {ECO:0000250|UniProtKB:P36152,ECO:0000250|UniProtKB:Q8WTY4, ECO:0000255|HAMAP-Rule:MF_03115,ECO:0000269|PubMed:23596212}. | 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:16436377}. |
| 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 CIAPIN1_PDHA2 |
| 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 CIAPIN1_PDHA2 |
| 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 CIAPIN1_PDHA2 |
| 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 CIAPIN1_PDHA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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