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Fusion gene ID: 1391 |
FusionGeneSummary for AKR1A1_CBY1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKR1A1_CBY1 | Fusion gene ID: 1391 | Hgene | Tgene | Gene symbol | AKR1A1 | CBY1 | Gene ID | 10327 | 25776 |
| Gene name | aldo-keto reductase family 1 member A1 | chibby family member 1, beta catenin antagonist | |
| Synonyms | ALDR1|ALR|ARM|DD3|HEL-S-6 | C22orf2|CBY|HS508I15A|PGEA1|PIGEA-14|PIGEA14|arb1 | |
| Cytomap | 1p34.1 | 22q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alcohol dehydrogenase [NADP(+)]HEL-S-165mPalcohol dehydrogenasealdehyde reductasedihydrodiol dehydrogenase 3epididymis secretory protein Li 6epididymis secretory sperm binding protein Li 165mP | protein chibby homolog 1ARPP-binding proteinPKD2 interactor, Golgi and endoplasmic reticulum-associated 1chibby CTNNB1-mediated transcription inhibitorchibby homolog 1coiled-coil protein PIGEA-14cytosolic leucine-rich proteinpolycystin-2 interactor | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P14550 | Q9Y3M2 | |
| Ensembl transtripts involved in fusion gene | ENST00000372070, ENST00000351829, ENST00000471651, ENST00000473038, | ENST00000216029, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 3 X 3 X 3=27 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/32*10)=0.906890595608518 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: AKR1A1 [Title/Abstract] AND CBY1 [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 | CBY1 | GO:0030178 | negative regulation of Wnt signaling pathway | 12712206|16424001 |
| Tgene | CBY1 | GO:0045892 | negative regulation of transcription, DNA-templated | 12712206 |
| Tgene | CBY1 | GO:0051289 | protein homotetramerization | 21182262 |
| 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 | AW613413 | AKR1A1 | chr1 | 46034837 | - | CBY1 | chr22 | 39067727 | - |
| * 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 |
| 5CDS-intron | ENST00000372070 | ENST00000216029 | AKR1A1 | chr1 | 46034837 | - | CBY1 | chr22 | 39067727 | - |
| 5CDS-intron | ENST00000351829 | ENST00000216029 | AKR1A1 | chr1 | 46034837 | - | CBY1 | chr22 | 39067727 | - |
| intron-intron | ENST00000471651 | ENST00000216029 | AKR1A1 | chr1 | 46034837 | - | CBY1 | chr22 | 39067727 | - |
| 3UTR-intron | ENST00000473038 | ENST00000216029 | AKR1A1 | chr1 | 46034837 | - | CBY1 | chr22 | 39067727 | - |
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FusionProtFeatures for AKR1A1_CBY1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKR1A1 | CBY1 |
| Catalyzes the NADPH-dependent reduction of a variety ofaromatic and aliphatic aldehydes to their corresponding alcohols.Catalyzes the reduction of mevaldate to mevalonic acid and ofglyceraldehyde to glycerol. Has broad substrate specificity. Invitro substrates include succinic semialdehyde, 4-nitrobenzaldehyde, 1,2-naphthoquinone, methylglyoxal, and D-glucuronic acid. Plays a role in the activation of procarcinogens,such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and inthe metabolism of various xenobiotics and drugs, including theanthracyclines doxorubicin (DOX) and daunorubicin (DAUN).{ECO:0000269|PubMed:10510318, ECO:0000269|PubMed:11306097,ECO:0000269|PubMed:18276838}. | Inhibits the Wnt/Wingless pathway by binding toCTNNB1/beta-catenin and inhibiting beta-catenin-mediatedtranscriptional activation through competition with TCF/LEFtranscription factors. Has also been shown to play a role inregulating the intracellular trafficking of polycystin-2/PKD2 andpossibly of other intracellular proteins. Promotes adipocyte andcardiomyocyte differentiation. {ECO:0000269|PubMed:12712206,ECO:0000269|PubMed:15194699}. |
| 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 AKR1A1_CBY1 |
| 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 AKR1A1_CBY1 |
| 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 AKR1A1_CBY1 |
| 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 AKR1A1_CBY1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AKR1A1 | C0001969 | Alcoholic Intoxication | 5 | PSYGENET |
| Hgene | AKR1A1 | C0001973 | Alcoholic Intoxication, Chronic | 5 | PSYGENET |
| Hgene | AKR1A1 | C0085762 | Alcohol abuse | 5 | PSYGENET |
| Hgene | AKR1A1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | AKR1A1 | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
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