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| TissGeneSummary for AKR1D1 |
 Gene summary |
| Basic gene information | Gene symbol | AKR1D1 |
| Gene name | aldo-keto reductase family 1, member D1 | |
| Synonyms | 3o5bred|CBAS2|SRD5B1 | |
| Cytomap | UCSC genome browser: 7q32-q33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001190906.1, NM_001190907.1,NM_005989.3, | |
| Description | 3-oxo-5-beta-steroid 4-dehydrogenasedelta 4-3-ketosteroid-5-beta-reductasedelta(4)-3-ketosteroid 5-beta-reductasedelta(4)-3-oxosteroid 5-beta-reductasesteroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 604741 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000122787 | ||
| HPRD : 07263 | ||
| Vega : OTTHUMG00000155787 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AKR1D1 | |
| BioGPS: 6718 | ||
| Pathway | NCI Pathway Interaction Database: AKR1D1 | |
| KEGG: AKR1D1 | ||
| REACTOME: AKR1D1 | ||
| Pathway Commons: AKR1D1 | ||
| Context | iHOP: AKR1D1 | |
| ligand binding site mutation search in PubMed: AKR1D1 | ||
| UCL Cancer Institute: AKR1D1 | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of AKR1D1 | ||
| Description by TissGene annotations | TissgsKTS CNV gained TissGeneKTS | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID | GO:0006699 | bile acid biosynthetic process | 7508385 | GO:0006707 | cholesterol catabolic process | 7508385 | GO:0007586 | digestion | 7508385 | GO:0008207 | C21-steroid hormone metabolic process | 7508385 | GO:0008209 | androgen metabolic process | 7508385 | GO:0055114 | oxidation-reduction process | 7508385 | GO:0006699 | bile acid biosynthetic process | 7508385 | GO:0006707 | cholesterol catabolic process | 7508385 | GO:0007586 | digestion | 7508385 | GO:0008207 | C21-steroid hormone metabolic process | 7508385 | GO:0008209 | androgen metabolic process | 7508385 | GO:0055114 | oxidation-reduction process | 7508385 |
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| TissGeneExp for AKR1D1 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LIHC | 5.949822757 | 10.02802876 | -4.078206 | 3.41E-11 | 4.82E-10 |
| KIRP | -0.452312993 | -2.444119243 | 1.99180625 | 2.95E-05 | 0.000113252 |
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| TissGene-miRNA for AKR1D1 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for AKR1D1 |
| TissGeneSNV for AKR1D1 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.P318S | SKCM | 2 |
| p.P277S | SKCM | 2 |
| p.G48R | SKCM | 2 |
| p.S205L | SKCM | 1 |
| p.L277V | BLCA | 1 |
| p.C157R | BLCA | 1 |
| p.E253X | SKCM | 1 |
| p.G86A | CESC | 1 |
| p.N245K | SKCM | 1 |
| p.R261C | LUSC | 1 |
| p.D324N | SKCM | 1 |
| p.E130K | SKCM | 1 |
| p.V233D | LUSC | 1 |
| p.P133H | LUAD | 1 |
| p.S31L | READ | 1 |
| p.R99C | SKCM | 1 |
| p.G128V | LUAD | 1 |
| p.P95Q | LUAD | 1 |
| p.L147M | UCEC | 1 |
| p.E269D | SKCM | 1 |
| p.P321L | SKCM | 1 |
| p.L239V | LUAD | 1 |
| p.R78W | HNSC | 1 |
| p.E120K | STAD | 1 |
| p.R173C | COAD | 1 |
| p.A5T | COAD | 1 |
| p.K273R | SKCM | 1 |
| p.A214E | COAD | 1 |
| p.S246L | SKCM | 1 |
| p.D324V | HNSC | 1 |
| p.E319K | THCA | 1 |
| p.H323N | HNSC | 1 |
| p.E63K | SKCM | 1 |
| p.G128R | BLCA | 1 |
| p.N283K | UCEC | 1 |
| p.R220C | READ | 1 |
| p.R9H | ACC | 1 |
| p.S27* | LUAD | 1 |
| p.K232R | SKCM | 1 |
| p.S17N | SKCM | 1 |
| p.E294* | SKCM | 1 |
| p.N16K | LIHC | 1 |
| p.K71N | UCEC | 1 |
| p.T91A | SARC | 1 |
| p.R78W | UCEC | 1 |
| p.D115E | STAD | 1 |
| p.I52V | HNSC | 1 |
| p.R78Q | SKCM | 1 |
| p.R220H | COAD | 1 |
| p.E195* | SARC | 1 |
| p.A160P | PRAD | 1 |
| p.T91A | LIHC | 1 |
| p.N146S | LIHC | 1 |
| p.D14N | CESC | 1 |
| p.L162F | LUAD | 1 |
| p.Y49C | STAD | 1 |
| p.K273N | SKCM | 1 |
| p.S234T | LUAD | 1 |
| p.F289L | SKCM | 1 |
| p.E294K | SKCM | 1 |
| p.R279K | SKCM | 1 |
| p.S234C | LUAD | 1 |
| p.H187R | STAD | 1 |
| p.S4N | SKCM | 1 |
| p.D298G | BLCA | 1 |
| p.T47K | LUAD | 1 |
| p.V168M | UCEC | 1 |
| p.S191R | LUAD | 1 |
| p.D112Y | BLCA | 1 |
| p.E310D | SKCM | 1 |
| p.A156T | SKCM | 1 |
| p.R238K | SKCM | 1 |
| p.K232N | SKCM | 1 |
| p.E253K | SKCM | 1 |
| p.S40L | SKCM | 1 |
| p.R50Q | COAD | 1 |
| p.L312F | UCEC | 1 |
| p.S165F | SKCM | 1 |
| p.G75E | SKCM | 1 |
| p.E294* | UCEC | 1 |
| p.E136K | LUAD | 1 |
| p.E80K | SKCM | 1 |
| p.P11L | SKCM | 1 |
| p.R274H | COAD | 1 |
| p.E61K | LUSC | 1 |
| p.F208C | UCEC | 1 |
| p.R99C | BRCA | 1 |
| p.E282* | UCEC | 1 |
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| TissGeneCNV for AKR1D1 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for AKR1D1 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| TCGAfusionPortal | PRADA | LUAD | TCGA-05-4398-01A | SYPL1-AKR1D1 | In-frame | Chr7:105738136 | Chr7:137782612 |
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| TissGeneNet for AKR1D1 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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| TissGeneProg for AKR1D1 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for AKR1D1 |
| TissGeneDrug for AKR1D1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB01216 | Finasteride | Inhibitor | Small molecule | Approved |
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| TissGeneDisease for AKR1D1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1856127 | Bile acid synthesis defect, congenital, 2 | 4 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C1291316 | Deficiency of reductase | 2 | BeFree |
| umls:C0000768 | Congenital Abnormality | 1 | BeFree |
| umls:C0018995 | Hemochromatosis | 1 | CTD_human |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0085605 | Liver Failure | 1 | BeFree |
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