TissGeneSummary for HSD17B3 |
Gene summary |
Basic gene information | Gene symbol | HSD17B3 |
Gene name | hydroxysteroid (17-beta) dehydrogenase 3 | |
Synonyms | EDH17B3|SDR12C2 | |
Cytomap | UCSC genome browser: 9q22 | |
Type of gene | protein-coding | |
RefGenes | NM_000197.1, | |
Description | 17-beta-HSD 317-beta-HSD317-beta-hydroxysteroid dehydrogenase type 3short chain dehydrogenase/reductase family 12C, member 2testicular 17-beta-hydroxysteroid dehydrogenasetestosterone 17-beta-dehydrogenase 3 | |
Modification date | 20141207 | |
dbXrefs | MIM : 605573 | |
HGNC : HGNC | ||
Ensembl : ENSG00000130948 | ||
HPRD : 05716 | ||
Vega : OTTHUMG00000020292 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HSD17B3 | |
BioGPS: 3293 | ||
Pathway | NCI Pathway Interaction Database: HSD17B3 | |
KEGG: HSD17B3 | ||
REACTOME: HSD17B3 | ||
Pathway Commons: HSD17B3 | ||
Context | iHOP: HSD17B3 | |
ligand binding site mutation search in PubMed: HSD17B3 | ||
UCL Cancer Institute: HSD17B3 | ||
Assigned class in TissGDB* | A | |
Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Testis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
Reference showing the relevant tissue of HSD17B3 | Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy. Puar T, Engels M, van Herwaarden AE, Sweep FC, Hulsbergen-van de Kaa C, Kamphuis-van Ulzen K, Chortis V, Arlt W, Stikkelbroeck N, Claahsen-van der Grinten HL, Hermus AR. J Clin Endocrinol Metab. 2017 Feb 1;102(2):339-344. doi: 10.1210/jc.2016-2702. (pmid:27901643) go to article | |
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 HSD17B3 |
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 |
LUSC | 0.690503478 | -1.440257306 | 2.130760784 | 2.59E-08 | 7.77E-08 |
THCA | -0.788475452 | 1.605904209 | -2.394379661 | 1.42E-17 | 3.05E-16 |
KIRC | -1.132555018 | -2.334209185 | 1.201654167 | 6.57E-08 | 1.86E-07 |
KICH | -2.77403213 | -1.39550813 | -1.378524 | 5.33E-06 | 1.77E-05 |
HNSC | -0.540074269 | -1.814704502 | 1.274630233 | 0.000987 | 0.003324476 |
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TissGene-miRNA for HSD17B3 |
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 HSD17B3 |
TissGeneSNV for HSD17B3 |
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.E272K | SKCM | 1 |
p.F286L | BLCA | 1 |
p.G186E | SKCM | 1 |
p.H142Y | SKCM | 1 |
p.S185Y | THYM | 1 |
p.E149K | SKCM | 1 |
p.E220K | SKCM | 1 |
p.A283D | HNSC | 1 |
p.E173K | UCEC | 1 |
p.W36* | STAD | 1 |
p.S232L | HNSC | 1 |
p.S279N | LUAD | 1 |
p.H155Y | SKCM | 1 |
p.R94Q | PRAD | 1 |
p.G289S | COAD | 1 |
p.E220* | UCEC | 1 |
p.T108R | LUAD | 1 |
p.Y195C | LIHC | 1 |
p.L85P | THCA | 1 |
p.S184Y | COAD | 1 |
p.A146T | SKCM | 1 |
p.A207T | COAD | 1 |
p.S65L | UCEC | 1 |
p.A22T | GBM | 1 |
p.W36X | STAD | 1 |
p.A56V | UCEC | 1 |
p.G267S | LUAD | 1 |
p.D58N | SKCM | 1 |
p.P191S | SKCM | 1 |
p.A270T | UCEC | 1 |
p.P140S | SKCM | 1 |
p.P136S | SKCM | 1 |
p.P40S | STAD | 1 |
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TissGeneCNV for HSD17B3 |
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 HSD17B3 |
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 | BRCA | TCGA-B6-A0X1-01A | HSD17B3-ENPP2 | Out-of-frame | Chr9:99060698 | Chr8:120638960 |
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TissGeneNet for HSD17B3 |
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 HSD17B3 |
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 HSD17B3 |
TissGeneDrug for HSD17B3 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for HSD17B3 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0268296 | 17-Hydroxysteroid Dehydrogenase Deficiency | 7 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0238395 | Male Pseudohermaphroditism | 5 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 5 | BeFree,GAD |
umls:C2751824 | 46, XY Disorders of Sex Development | 4 | BeFree |
umls:C0042755 | Virilism | 3 | BeFree |
umls:C0555232 | pseudohermaphrodite (non-specific) | 3 | BeFree |
umls:C0600139 | Prostate carcinoma | 3 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 2 | GAD |
umls:C0018418 | Gynecomastia | 2 | BeFree |
umls:C0266362 | Ambiguous Genitalia | 2 | BeFree |
umls:C0848558 | Hypospadias | 2 | BeFree,GAD |
umls:C0003810 | Sertoli-Leydig cell tumor of ovary | 1 | BeFree |
umls:C0004352 | Autistic Disorder | 1 | GAD |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | RGD |
umls:C0027404 | Narcolepsy | 1 | GAD |
umls:C0033578 | Prostatic Neoplasms | 1 | CTD_human |
umls:C0033804 | Pseudohermaphroditism | 1 | BeFree |
umls:C0036875 | Disorders of Sex Development | 1 | CTD_human |
umls:C0085762 | Alcohol abuse | 1 | GAD |
umls:C0268297 | Pseudovaginal Perineoscrotal Hypospadias | 1 | BeFree |
umls:C0432470 | 46, XY female | 1 | BeFree |
umls:C1527249 | Colorectal Cancer | 1 | GAD |
umls:C1691215 | Penile hypospadias | 1 | BeFree |
umls:C1704272 | Benign Prostatic Hyperplasia | 1 | BeFree |
umls:C3669122 | 5-Alpha Reductase Deficiency | 1 | BeFree |