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Fusion gene ID: 1389 |
FusionGeneSummary for AKR1A1_AGO3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKR1A1_AGO3 | Fusion gene ID: 1389 | Hgene | Tgene | Gene symbol | AKR1A1 | AGO3 | Gene ID | 10327 | 192669 |
| Gene name | aldo-keto reductase family 1 member A1 | argonaute 3, RISC catalytic component | |
| Synonyms | ALDR1|ALR|ARM|DD3|HEL-S-6 | EIF2C3 | |
| Cytomap | 1p34.1 | 1p34.3 | |
| 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 argonaute-3argonaute RISC catalytic component 3eukaryotic translation initiation factor 2C, 3hAgo3 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P14550 | Q9H9G7 | |
| Ensembl transtripts involved in fusion gene | ENST00000372070, ENST00000351829, ENST00000471651, ENST00000473038, | ENST00000324350, ENST00000373191, ENST00000397828, ENST00000246314, ENST00000471099, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 8 X 5 X 8=320 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/32*10)=0.906890595608518 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/320*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AKR1A1 [Title/Abstract] AND AGO3 [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 | AGO3 | GO:0006402 | mRNA catabolic process | 18771919 |
| Tgene | AGO3 | GO:0010501 | RNA secondary structure unwinding | 19966796 |
| Tgene | AGO3 | GO:0031054 | pre-miRNA processing | 19966796 |
| Tgene | AGO3 | GO:0035278 | miRNA mediated inhibition of translation | 18771919 |
| Tgene | AGO3 | GO:0035279 | mRNA cleavage involved in gene silencing by miRNA | 15260970 |
| Tgene | AGO3 | GO:0035280 | miRNA loading onto RISC involved in gene silencing by miRNA | 19966796 |
| Tgene | AGO3 | GO:0090625 | mRNA cleavage involved in gene silencing by siRNA | 15260970 |
| 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 | LD | HNSC | TCGA-F7-A61W-01A | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| * 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 | ENST00000324350 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000372070 | ENST00000373191 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000372070 | ENST00000397828 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-5UTR | ENST00000372070 | ENST00000246314 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000372070 | ENST00000471099 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000351829 | ENST00000324350 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000351829 | ENST00000373191 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000351829 | ENST00000397828 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-5UTR | ENST00000351829 | ENST00000246314 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000351829 | ENST00000471099 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000471651 | ENST00000324350 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000471651 | ENST00000373191 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000471651 | ENST00000397828 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-5UTR | ENST00000471651 | ENST00000246314 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| 5CDS-intron | ENST00000471651 | ENST00000471099 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| intron-intron | ENST00000473038 | ENST00000324350 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| intron-intron | ENST00000473038 | ENST00000373191 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| intron-intron | ENST00000473038 | ENST00000397828 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| intron-5UTR | ENST00000473038 | ENST00000246314 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
| intron-intron | ENST00000473038 | ENST00000471099 | AKR1A1 | chr1 | 46027550 | + | AGO3 | chr1 | 36469942 | + |
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FusionProtFeatures for AKR1A1_AGO3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKR1A1 | AGO3 |
| 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}. | Required for RNA-mediated gene silencing (RNAi). Bindsto short RNAs such as microRNAs (miRNAs) and represses thetranslation of mRNAs which are complementary to them. Proposed tobe involved in stabilization of small RNA derivates (riRNA)derived from processed RNA polymerase III-transcribed Alu repeatscontaining a DR2 retinoic acid response element (RARE) in stemcells and in the subsequent riRNA-dependent degradation of asubset of RNA polymerase II-transcribed coding mRNAs by recruitinga mRNA decapping complex involving EDC4. Possesses RNA sliceractivity but only on select RNAs bearing 5'- and 3'-flankingsequences to the region of guide-target complementarity(PubMed:29040713). {ECO:0000255|HAMAP-Rule:MF_03032,ECO:0000269|PubMed:18771919, ECO:0000269|PubMed:23064648,ECO:0000269|PubMed:29040713}. |
| 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_AGO3 |
| 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_AGO3 |
| 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 |
| AKR1A1 | TERF1, TERF2IP, EXOSC4, IGHG2, ARFIP1, CFL1, DAZAP1, ECHS1, GAPDH, NANS, NME1-NME2, NME2, PGK1, PGK2, PKM, PTGR1, SNX12, SNX3, SOD1, TALDO1, TKT, C11orf54, GNPDA2, GPI, GRHPR, MEMO1, PCBP1, PDCD6 | AGO3 | DICER1, UBC, FLNA, PRMT5, SF3B6, SPTBN1, SPTAN1, OTUD4, MYH9, TNRC6B, EIF4B, IPO8, AGO2, HSP90AB1, HSPA9, SUN2, PSPC1, CCT3, EIF3L, ATAD3B, TAB1, PRPF31, TUBA1A, STK38, TUBB4A, TUBB4B, TUBB2A, TUBB, TRIM21, EEF1A1, DBT, RUVBL2, WDR77, DNAJA1, DDOST, QPCTL, CLNS1A, PHB2, SPIN1, AGO4, CUL3, CUL5, CAND1, TNRC6A, TNRC6C, ATP4B, SLC22A2, BDNF, ATP6V0D2, AGO1, PRKAR1A, TARBP2, ZNF346, HSP90AA1, HSP90AB4P, HSP90AB3P, HSP90AA5P, AP3M1, AP3D1, FKBP5, AP3B1, AP3S1, ANKMY2, LONRF3, RANGRF, XPO1, BAG5, CIR1, ATOH1, BRCA1 |
| - 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_AGO3 |
| 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_AGO3 |
| 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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