Basic information

Full name
serpin family C member 1
Ensembl
ENSG00000117601.13
Summary
The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
Annotation
Druggable target (Tier T2) Ligand

Protein product

  • ENST00000367698.3 Primary ENSP00000356671.3 (0 phosphosite)
  • ENST00000617423.4
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
RNA-2.3e-24--8.6e-25---6.7e-4-6.2e-10-0.14--0.15-
protein-----------

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC012345678log2(RSEM+1)tumornormal
Protein expression

* 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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0.00.51.01.52.02.53.03.54.04.55.05.56.06.57.00.0-0.5-1.0-1.5-2.0-2.5-3.0-3.5-4.0-4.5-5.0-5.5-6.0-6.5-7.0Pan-cancer024681012140-2-4-6-8-10-12-14proteinRNASCNVclinicalpathwaycell 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 SERPINC1 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: B cell naive-----------
cibersort: B cell memory-----------
cibersort: B cell plasma-----------
cibersort: T cell CD8+-----------
cibersort: T cell CD4+ naive-----------
cibersort: T cell CD4+ memory resting-----------
cibersort: T cell CD4+ memory activated-----------
cibersort: T cell follicular helper-----------
cibersort: T cell regulatory (Tregs)-----------
cibersort: T cell gamma delta-----------
Showing 1 to 10 of 256 rows

* 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 SERPINC1

BRCA0.18proteinmRNASCNVmethylationCCRCC0.21proteinmRNASCNVmethylationCOAD-0.10proteinmRNASCNVmethylationGBM0.17proteinmRNASCNVmethylationHNSCC-0.03proteinmRNASCNVmethylationLSCC0.14proteinmRNASCNVmethylationLUAD0.09proteinmRNASCNVmethylationOV0.07proteinmRNASCNVmethylationPDAC-0.04proteinmRNASCNVmethylationUCEC0.18proteinmRNASCNVmethylation

* 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 SERPINC1 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.