Basic information

Full name
guanidinoacetate N-methyltransferase
Ensembl
ENSG00000130005.13
Summary
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
Annotation
Druggable target (Tier T2)

Protein product

  • ENST00000252288.8 Primary ENSP00000252288.1 (0 phosphosite)
  • ENST00000447102.8
  • ENST00000640762.1
Phosphosites on the primary protein product
Loading...

Tumor and normal comparison

Loading, please wait
Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA0.17--0.48---4.1e-105.7e-171.3e-13--2.1e-8-
protein-1.5e-25--2.8e-7-2.4e-19--5.3e-162.4e-70.082-6.9e-5-1.2e-13-4.9e-3

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC123456789101112log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214160-2-4-6-8-10-12-14-16Pan-cancer024681012141618200-2-4-6-8-10-12-14-16-18-20proteinRNASCNVclinicalpathwaycell 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 GAMT with phenotypes and mutations

Loading, please wait
Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_BILE_ACID_METABOLISM1.2e-91e-71e-70.194.4e-30.042-0.180.36-0.310.160.017
HALLMARK_FATTY_ACID_METABOLISM3.5e-86.9e-52.2e-16-0.910.60.064.5e-3-0.53-0.071-0.693.3e-3
HALLMARK_PEROXISOME3.6e-74.9e-85.8e-90.450.0480.530.510.95-0.0590.120.28
xcell: Hematopoietic stem cell6.2e-72.7e-3-0.881.3e-30.282.7e-5-0.37-0.8312.8e-30.011
cibersort: Mast cell activated2.8e-63.2e-70.890.350.353.6e-4-0.820.67-0.670.0570.014
HALLMARK_ADIPOGENESIS7.4e-67.2e-43.7e-70.0360.479.8e-3-0.570.43-0.21-0.0952.6e-3
cibersort: Monocyte3.4e-59.1e-50.140.93-0.620.031-0.830.270.110.0180.27
HALLMARK_MYOGENESIS1.4e-40.079-0.0716.5e-30.521.1e-4-0.60.190.024-0.460.011
PBRM1 mutation4.8e-4-4.8e-4--------
PROGENy: Estrogen5.1e-42.2e-16-0.350.410.980.0640.082-3.3e-50.510.640.022
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 GAMT

BRCA0.690.160.12proteinmRNASCNVmethylationCCRCC0.86-0.020.08-0.130.150.10proteinmRNASCNVmethylationCOAD0.48-0.26-0.09proteinmRNASCNVmethylationGBM0.650.000.17-0.010.23-0.07proteinmRNASCNVmethylationHNSCC0.68-0.020.16-0.120.140.13proteinmRNASCNVmethylationLSCC0.89-0.010.060.030.01-0.10proteinmRNASCNVmethylationLUAD0.770.010.330.050.290.07proteinmRNASCNVmethylationOV0.730.220.24proteinmRNASCNVmethylationPDAC0.37-0.240.01-0.200.35-0.03proteinmRNASCNVmethylationUCEC0.83-0.040.060.020.040.03proteinmRNASCNVmethylation

* 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 GAMT and the protein abundance of other genes

Loading, please wait
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.