TissGeneSummary for AKR1C1 |
Gene summary |
Basic gene information | Gene symbol | AKR1C1 |
Gene name | aldo-keto reductase family 1, member C1 | |
Synonyms | 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB | |
Cytomap | UCSC genome browser: 10p15-p14 | |
Type of gene | protein-coding | |
RefGenes | NM_001353.5, | |
Description | 20 alpha-hydroxysteroid dehydrogenase20-alpha-hydroxysteroid dehydrogenasealdo-keto reductase Caldo-keto reductase family 1 member C1chlordecone reductase homolog HAKRCdihydrodiol dehydrogenase 1dihydrodiol dehydrogenase 1/2dihydrodiol dehydrogenas | |
Modification date | 20141207 | |
dbXrefs | MIM : 600449 | |
HGNC : HGNC | ||
HPRD : 07194 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AKR1C1 | |
BioGPS: 1645 | ||
Pathway | NCI Pathway Interaction Database: AKR1C1 | |
KEGG: AKR1C1 | ||
REACTOME: AKR1C1 | ||
Pathway Commons: AKR1C1 | ||
Context | iHOP: AKR1C1 | |
ligand binding site mutation search in PubMed: AKR1C1 | ||
UCL Cancer Institute: AKR1C1 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BladderLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | BLCALIHC | |
Reference showing the relevant tissue of AKR1C1 | ||
Description by TissGene annotations |
* 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:0007586 | digestion | 8486699 | GO:0008206 | bile acid metabolic process | 8486699 | GO:0030855 | epithelial cell differentiation | 21492153 | GO:0042448 | progesterone metabolic process | 21232532 | GO:0042574 | retinal metabolic process | 21851338 | GO:0051260 | protein homooligomerization | 8486699 | GO:0055114 | oxidation-reduction process | 19442656 | GO:0071395 | cellular response to jasmonic acid stimulus | 19487289 | GO:0007586 | digestion | 8486699 | GO:0008206 | bile acid metabolic process | 8486699 | GO:0030855 | epithelial cell differentiation | 21492153 | GO:0042448 | progesterone metabolic process | 21232532 | GO:0042574 | retinal metabolic process | 21851338 | GO:0051260 | protein homooligomerization | 8486699 | GO:0055114 | oxidation-reduction process | 19442656 | GO:0071395 | cellular response to jasmonic acid stimulus | 19487289 |
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TissGeneExp for AKR1C1 |
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) |
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) |
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. |
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) |
- 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 |
THCA | -1.182903675 | 1.408506494 | -2.591410169 | 3.27E-18 | 8.21E-17 |
KIRC | 2.131769795 | 3.35248785 | -1.220718056 | 2.43E-07 | 6.56E-07 |
PRAD | -1.109540996 | 0.135253235 | -1.244794231 | 3.21E-08 | 3.48E-07 |
COAD | -0.761627534 | 1.253553235 | -2.015180769 | 3.53E-08 | 2.75E-07 |
BRCA | -0.249926185 | 3.880597499 | -4.130523684 | 4.75E-37 | 1.05E-35 |
STAD | 1.642709725 | 4.0135566 | -2.370846875 | 5.42E-07 | 1.00E-05 |
KICH | 3.02099985 | 4.18405185 | -1.163052 | 0.0232 | 0.03873697 |
LUSC | 4.287301576 | 2.608117262 | 1.679184314 | 0.00127 | 0.002325236 |
KIRP | 4.78587535 | 2.983753475 | 1.802121875 | 3.22E-05 | 0.000122776 |
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TissGene-miRNA for AKR1C1 |
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 AKR1C1 |
TissGeneSNV for AKR1C1 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.R263C | UCEC | 1 |
p.D78H | BLCA | 1 |
p.L94V | SKCM | 1 |
p.V228M | STAD | 1 |
p.G25E | SKCM | 1 |
p.V128M | BRCA | 1 |
p.R258H | BLCA | 1 |
p.R250Q | UCEC | 1 |
p.R223Q | HNSC | 1 |
p.I14T | UCS | 1 |
p.L182R | UCEC | 1 |
p.G264V | PRAD | 1 |
p.K68N | LUAD | 1 |
p.R47H | LGG | 1 |
p.K39T | UCEC | 1 |
p.R250* | UCEC | 1 |
p.G22A | OV | 1 |
p.H248Y | PAAD | 1 |
p.V151M | CESC | 1 |
p.L19R | LIHC | 1 |
p.E36Q | CESC | 1 |
p.I49V | STAD | 1 |
p.E274K | BRCA | 1 |
p.D156Y | KIRC | 1 |
p.K33T | STAD | 1 |
p.I10T | ACC | 1 |
p.H14Q | UCEC | 1 |
p.E274Q | CESC | 1 |
p.K4E | LIHC | 1 |
p.R250Q | SKCM | 1 |
p.C154Y | DLBC | 1 |
p.L40F | KIRP | 1 |
p.Y216C | LUAD | 1 |
p.S89F | SKCM | 1 |
p.E174Q | BRCA | 1 |
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TissGeneCNV for AKR1C1 |
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 AKR1C1 |
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 | LUSC | TCGA-66-2758-01A | CCDC88B-AKR1C1 | CDS-5UTR | Chr11:64110797 | Chr10:4950543 |
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TissGeneNet for AKR1C1 |
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 AKR1C1 |
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. |
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. |
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. |
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 AKR1C1 |
TissGeneDrug for AKR1C1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00936 | Salicylic acid | Inhibitor | Small molecule | Approved|Vet_approved |
DB00945 | Acetylsalicylic acid | Inhibitor | Small molecule | Approved|Vet_approved |
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TissGeneDisease for AKR1C1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0242379 | Malignant neoplasm of lung | 4 | BeFree,GAD |
umls:C0684249 | Carcinoma of lung | 3 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 2 | BeFree,GAD |
umls:C0014175 | Endometriosis | 2 | BeFree,CTD_human |
umls:C0024121 | Lung Neoplasms | 2 | BeFree,LHGDN |
umls:C0024305 | Lymphoma, Non-Hodgkin | 2 | GAD |
umls:C0029925 | Ovarian Carcinoma | 2 | BeFree |
umls:C0029928 | Ovarian Diseases | 2 | BeFree |
umls:C0677886 | Epithelial ovarian cancer | 2 | BeFree |
umls:C2239176 | Liver carcinoma | 2 | BeFree,LHGDN |
umls:C0000768 | Congenital Abnormality | 1 | BeFree |
umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | GAD |
umls:C0003469 | Anxiety Disorders | 1 | BeFree |
umls:C0007103 | Malignant neoplasm of endometrium | 1 | BeFree |
umls:C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
umls:C0007137 | Squamous cell carcinoma | 1 | LHGDN |
umls:C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0014170 | Endometrial Neoplasms | 1 | CTD_human,LHGDN |
umls:C0027661 | Neoplasms, Hormone-Dependent | 1 | CTD_human |
umls:C0029408 | Degenerative polyarthritis | 1 | CTD_human |
umls:C0030319 | Panic Disorder | 1 | BeFree |
umls:C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
umls:C0036875 | Disorders of Sex Development | 1 | CTD_human |
umls:C0156344 | Endometriosis of ovary | 1 | BeFree |
umls:C0205851 | Germ cell tumor | 1 | BeFree |
umls:C0476089 | Endometrial Carcinoma | 1 | BeFree |
umls:C0598894 | Monocytic leukemia | 1 | BeFree |
umls:C0678222 | Breast Carcinoma | 1 | BeFree |
umls:C1318544 | M5b Acute differentiated monocytic leukemia | 1 | BeFree |
umls:C1458155 | Mammary Neoplasms | 1 | BeFree,LHGDN |
umls:C1527249 | Colorectal Cancer | 1 | BeFree |
umls:C1868649 | PANIC DISORDER 1 | 1 | BeFree |
umls:C1883486 | Uterine Corpus Cancer | 1 | BeFree |