Basic information

Full name
argininosuccinate synthase 1
Ensembl
ENSG00000130707.18
Summary
The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
Annotation
Essential genes

Protein product

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-0.44--1.3e-26---0.0290.0621.4e-9-0.46-
protein-7.2e-8--9.5e-290.041--1.2e-10-2.3e-5-0.651.7e-60.910.94

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC567891011121314151617log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC242526272829303132log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0123456789100-1-2-3-4-5-6-7-8-9-10Pan-cancer02468101214160-2-4-6-8-10-12-14-16proteinRNASCNVclinicalpathwaycell 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 ASS1 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_HEME_METABOLISM5.6e-8-0.710.010.190.214.4e-67.9e-31.5e-30.880.970.073
HALLMARK_INTERFERON_ALPHA_RESPONSE1.1e-60.047-0.180.0260.0010.0769.8e-3-0.940.090.360.017
HALLMARK_INTERFERON_GAMMA_RESPONSE1.9e-64.1e-3-0.770.310.0010.0998.3e-3-0.990.370.620.012
PROGENy: JAK-STAT1.1e-50.085-0.110.391.2e-30.120.023-0.910.0910.164.5e-3
HALLMARK_ESTROGEN_RESPONSE_LATE1.9e-4-1.0e-40.3-0.860.0098.1e-54.1e-50.70.20.0320.71
HALLMARK_REACTIVE_OXYGEN_SPECIES_PATHWAY2.5e-44.5e-4-0.933.8e-30.10.240.057-0.0680.25-0.640.092
PROGENy: Androgen3.7e-4-0.420.37-0.0670.545.6e-43.2e-38.0e-50.910.014-0.59
HALLMARK_ESTROGEN_RESPONSE_EARLY4.3e-4-1.8e-40.12-0.150.0395.1e-62.9e-60.2-0.620.0190.76
HALLMARK_PEROXISOME5.3e-4-0.0250.580.30.50.197.9e-50.0120.0140.21-0.58
HALLMARK_UV_RESPONSE_UP6.7e-40.112.2e-4-0.920.0360.170.69-0.0940.0730.930.13
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 ASS1

BRCA0.880.260.25proteinmRNASCNVmethylationCCRCC0.280.020.18-0.020.070.14proteinmRNASCNVmethylationCOAD0.780.020.07proteinmRNASCNVmethylationGBM0.760.120.080.010.040.04proteinmRNASCNVmethylationHNSCC0.880.170.280.090.340.01proteinmRNASCNVmethylationLSCC0.940.160.210.170.18-0.02proteinmRNASCNVmethylationLUAD0.810.060.280.030.250.02proteinmRNASCNVmethylationOV0.770.310.40proteinmRNASCNVmethylationPDAC0.85-0.080.31-0.130.43-0.05proteinmRNASCNVmethylationUCEC0.91-0.010.070.050.04-0.21proteinmRNASCNVmethylation

* 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 ASS1 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.