Basic information

Full name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Ensembl
ENSG00000099377.14
Summary
This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Protein product

  • ENST00000297679.10 Primary ENSP00000297679.5 (0 phosphosite)
  • ENST00000262520.10
Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA7.8e-21-2.3e-28--5.0e-4-0.144.3e-20--0.2-
protein0.072-3.7e-260.67--0.39-6e-10-2.2e-8-2.5e-3-0.0263.1e-5

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC56789101112131415log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC1819202122232425262728log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0246810121416182022240-2-4-6-8-10-12-14-16-18-20-22-24Pan-cancer0246810121416182022242628300-2-4-6-8-10-12-14-16-18-20-22-24-26-28-30proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of HSD3B7 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
cibersort: Neutrophil1.7e-18-0.390.0228.7e-35.9e-51.8e-38.6e-50.39.3e-82.3e-31.4e-3
PROGENy: TNFa2.7e-13-7.7e-30.071.1e-47.2e-60.0410.190.791.2e-47.4e-53.0e-5
PROGENy: NFkB2.4e-12-1.9e-30.11.7e-41.4e-50.040.220.881.3e-44.7e-52.3e-5
HALLMARK_TNFA_SIGNALING_VIA_NFKB4.8e-12-0.30.142.7e-42.0e-60.0150.31-0.520.0014.4e-46.2e-4
HALLMARK_XENOBIOTIC_METABOLISM6.1e-120.0019.1e-8-0.51.1e-70.62-0.510.620.0373.2e-50.057
xcell: Monocyte1.2e-110.580.013.3e-33.6e-61.1e-30.37-0.352.6e-30.0865.2e-3
cibersort: Mast cell resting2.6e-10-0.990.61.1e-40.0310.0450.297.1e-30.383.2e-31.0e-4
HALLMARK_ESTROGEN_RESPONSE_LATE4.2e-107e-80.0120.829.7e-60.870.048-0.970.330.0170.087
HALLMARK_ESTROGEN_RESPONSE_EARLY2.4e-91.6e-70.0560.221.6e-40.640.0640.370.130.670.12
HALLMARK_HYPOXIA2.8e-9-0.770.0031.4e-31.7e-70.780.22-0.870.110.0872.4e-3
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* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of HSD3B7

BRCA0.560.350.47proteinmRNASCNVmethylationCCRCC0.740.280.40proteinmRNASCNVmethylationCOAD0.110.05-0.01proteinmRNASCNVmethylationGBM0.600.150.22proteinmRNASCNVmethylationHNSCC0.26-0.120.05proteinmRNASCNVmethylationLSCC0.310.040.20proteinmRNASCNVmethylationLUAD0.110.020.28proteinmRNASCNVmethylationOV-0.13-0.070.47proteinmRNASCNVmethylationPDAC0.31-0.020.09proteinmRNASCNVmethylationUCEC0.270.070.14proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of HSD3B7 and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.