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| TissGeneSummary for HSD11B1 |
 Gene summary |
| Basic gene information | Gene symbol | HSD11B1 |
| Gene name | hydroxysteroid (11-beta) dehydrogenase 1 | |
| Synonyms | 11-DH|11-beta-HSD1|CORTRD2|HDL|HSD11|HSD11B|HSD11L|SDR26C1 | |
| Cytomap | UCSC genome browser: 1q32-q41 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001206741.1, NM_005525.3,NM_181755.2, | |
| Description | corticosteroid 11-beta-dehydrogenase isozyme 1short chain dehydrogenase/reductase family 26C, member 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600713 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000117594 | ||
| HPRD : 07042 | ||
| Vega : OTTHUMG00000036481 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HSD11B1 | |
| BioGPS: 3290 | ||
| Pathway | NCI Pathway Interaction Database: HSD11B1 | |
| KEGG: HSD11B1 | ||
| REACTOME: HSD11B1 | ||
| Pathway Commons: HSD11B1 | ||
| Context | iHOP: HSD11B1 | |
| ligand binding site mutation search in PubMed: HSD11B1 | ||
| UCL Cancer Institute: HSD11B1 | ||
| 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) | LiverOvary | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHCOV | |
| Reference showing the relevant tissue of HSD11B1 | ||
| 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 |
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| TissGeneExp for HSD11B1 |
| 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 |
| LUSC | 0.219864409 | 2.079346762 | -1.859482353 | 1.53E-13 | 7.76E-13 |
| KICH | -2.51823316 | 0.41637884 | -2.934612 | 1.18E-08 | 6.21E-08 |
| KIRP | -3.099422785 | -0.796291535 | -2.30313125 | 8.74E-08 | 5.32E-07 |
| LIHC | 5.25903484 | 7.84301284 | -2.583978 | 4.33E-07 | 2.56E-06 |
| BRCA | -1.198195756 | 1.228160384 | -2.42635614 | 1.75E-21 | 1.40E-20 |
| KIRC | -2.302011326 | -0.080652993 | -2.221358333 | 2.33E-13 | 1.04E-12 |
| BLCA | -1.277683475 | 0.08994284 | -1.367626316 | 0.00143 | 0.009579277 |
| PRAD | -0.323980237 | 0.780144763 | -1.104125 | 8.59E-05 | 0.000365279 |
| THCA | -2.380016482 | -1.150467329 | -1.229549153 | 6.57E-05 | 0.000184594 |
| Top |
| TissGene-miRNA for HSD11B1 |
| 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 HSD11B1 |
| TissGeneSNV for HSD11B1 |
| 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.G34E | SKCM | 2 |
| p.E69K | SKCM | 2 |
| p.G45W | LUAD | 1 |
| p.Y19H | STAD | 1 |
| p.D191N | SKCM | 1 |
| p.H130Y | SKCM | 1 |
| p.R48K | LUAD | 1 |
| p.G58E | SKCM | 1 |
| p.C272* | LUAD | 1 |
| p.R252C | LUAD | 1 |
| p.A51G | LUAD | 1 |
| p.E200K | SKCM | 1 |
| p.L109F | LUSC | 1 |
| p.K44E | PAAD | 1 |
| p.A99P | LUAD | 1 |
| p.G112R | STAD | 1 |
| p.S125C | BRCA | 1 |
| p.G58R | SKCM | 1 |
| p.R137C | SKCM | 1 |
| p.S196Y | UCEC | 1 |
| p.E221* | UCEC | 1 |
| p.G45R | SKCM | 1 |
| p.G192V | ACC | 1 |
| p.A99T | COAD | 1 |
| p.E254* | UCEC | 1 |
| p.T92P | SKCM | 1 |
| p.L128F | SKCM | 1 |
| p.A226E | LUSC | 1 |
| p.G248E | SKCM | 1 |
| p.H232Y | SKCM | 1 |
| p.E26K | SKCM | 1 |
| p.L215P | STAD | 1 |
| p.R252C | GBM | 1 |
| p.F193L | UCEC | 1 |
| p.L128I | UCEC | 1 |
| p.K187N | STAD | 1 |
| p.L267P | LUSC | 1 |
| p.G45V | BRCA | 1 |
| p.A154S | UCEC | 1 |
| p.G45E | SKCM | 1 |
| Top |
| TissGeneCNV for HSD11B1 |
| 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 HSD11B1 |
| 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 |
| Chimerdb3.0 | ChiTaRs | NA | BG954179 | HNRNPH3-HSD11B1 | chr10:70099312 | chr1:209897701 | |
| TCGAfusionPortal | PRADA | OV | TCGA-09-1667-01C | JAK1-HSD11B1 | 5UTR-5UTR | Chr1:65432016 | Chr1:209878262 |
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| TissGeneNet for HSD11B1 |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
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| COAD (tumor) | COAD (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
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| KICH (tumor) | KICH (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (tumor) | HSD11B1, HNF4A, HNF1A, CD36, GKAP1 (normal) |
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| TissGeneProg for HSD11B1 |
| 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 HSD11B1 |
| TissGeneDrug for HSD11B1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00635 | Prednisone | Ligand | Small molecule | Approved|Vet_approved |
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| TissGeneDisease for HSD11B1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0028754 | Obesity | 30 | BeFree,CTD_human,GAD,RGD |
| umls:C0524620 | Metabolic Syndrome X | 16 | BeFree,GAD,RGD |
| umls:C0020538 | Hypertensive disease | 13 | BeFree,CTD_human,GAD,LHGDN |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 10 | BeFree,GAD,LHGDN,RGD |
| umls:C1291245 | Cortisone reductase deficiency | 9 | BeFree,CTD_human |
| umls:C0032460 | Polycystic Ovary Syndrome | 6 | BeFree,GAD |
| umls:C0029456 | Osteoporosis | 4 | BeFree,LHGDN |
| umls:C0029928 | Ovarian Diseases | 4 | BeFree |
| umls:C0007222 | Cardiovascular Diseases | 3 | BeFree |
| umls:C0010054 | Coronary Arteriosclerosis | 3 | BeFree |
| umls:C0010481 | Cushing Syndrome | 3 | BeFree,GAD |
| umls:C0151526 | Premature Birth | 3 | GAD |
| umls:C0311277 | Obesity, Abdominal | 3 | BeFree,CTD_human |
| umls:C1956346 | Coronary Artery Disease | 3 | BeFree |
| umls:C0001430 | Adenoma | 2 | BeFree,LHGDN |
| umls:C0001622 | Adrenal Gland Hyperfunction | 2 | BeFree |
| umls:C0002395 | Alzheimer's Disease | 2 | GAD |
| umls:C0003873 | Rheumatoid Arthritis | 2 | BeFree,CTD_human |
| umls:C0006142 | Malignant neoplasm of breast | 2 | BeFree,GAD |
| umls:C0010068 | Coronary heart disease | 2 | BeFree |
| umls:C0021368 | Inflammation | 2 | GAD |
| umls:C0032002 | Pituitary Diseases | 2 | BeFree |
| umls:C0037274 | Dermatologic disorders | 2 | BeFree,GAD |
| umls:C0400966 | Non-alcoholic Fatty Liver Disease | 2 | BeFree |
| umls:C2936861 | Cortisol 11-beta-ketoreductase deficiency | 2 | BeFree |
| umls:C0001403 | Addison Disease | 1 | GAD |
| umls:C0001418 | Adenocarcinoma | 1 | BeFree |
| umls:C0001624 | Adrenal Gland Neoplasms | 1 | BeFree |
| umls:C0001787 | Osteoporosis, Age-Related | 1 | BeFree |
| umls:C0004352 | Autistic Disorder | 1 | GAD |
| umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
| umls:C0009404 | Colorectal Neoplasms | 1 | LHGDN |
| umls:C0009782 | Connective Tissue Diseases | 1 | GAD |
| umls:C0011570 | Mental Depression | 1 | BeFree |
| umls:C0011581 | Depressive disorder | 1 | BeFree |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| umls:C0014130 | Endocrine System Diseases | 1 | GAD |
| umls:C0015929 | Fetal Diseases | 1 | GAD |
| umls:C0020456 | Hyperglycemia | 1 | CTD_human |
| umls:C0020473 | Hyperlipidemia | 1 | RGD |
| umls:C0021655 | Insulin Resistance | 1 | CTD_human |
| umls:C0022661 | Kidney Failure, Chronic | 1 | BeFree |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0026857 | Musculoskeletal Diseases | 1 | GAD |
| umls:C0028756 | Obesity, Morbid | 1 | GAD |
| umls:C0029463 | Osteosarcoma | 1 | BeFree |
| umls:C0032019 | Pituitary Neoplasms | 1 | BeFree |
| umls:C0032964 | Pregnancy Complications, Hematologic | 1 | GAD |
| umls:C0033845 | Pseudotumor Cerebri | 1 | BeFree |
| umls:C0149721 | Left Ventricular Hypertrophy | 1 | BeFree |
| umls:C0162309 | Adrenoleukodystrophy | 1 | BeFree |
| umls:C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
| umls:C0206081 | Hyperandrogenism | 1 | BeFree |
| umls:C0238052 | Xanthomatosis, Cerebrotendinous | 1 | BeFree |
| umls:C0271650 | Impaired glucose tolerance | 1 | LHGDN |
| umls:C0271885 | Hypothalamic obesity | 1 | BeFree |
| umls:C0333516 | Tumor necrosis | 1 | BeFree |
| umls:C0338656 | Impaired cognition | 1 | BeFree |
| umls:C0342488 | Mineralocorticoid Excess Syndrome, Apparent | 1 | BeFree |
| umls:C0518010 | body mass | 1 | GAD |
| umls:C0585442 | Osteosarcoma of bone | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C1306214 | ACTH-Secreting Pituitary Adenoma | 1 | BeFree |
| umls:C1527249 | Colorectal Cancer | 1 | BeFree |
| umls:C2316810 | Chronic kidney disease stage 5 | 1 | BeFree |
| umls:C2362324 | Pediatric Obesity | 1 | BeFree |
| umls:C3714514 | Infection | 1 | GAD |
| umls:C3553382 | CORTISONE REDUCTASE DEFICIENCY 2 | 0 | CLINVAR,MGD |
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