Gene: GNAS

LinkedOmicsKB © 2022-2023 Zhang Lab

Basic information

Full name
GNAS complex locus
Ensembl
ENSG00000087460.25
Summary
This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
Annotation
Cancer driver (Oncogene) Ligand

Protein product

  • ENST00000371100.8 Primary ENSP00000360141.3 (12 phosphosites)
  • ENST00000667293.1
  • ENST00000477931.5
  • ENST00000657090.1
  • ENST00000480975.5
  • ENST00000461152.6
  • ENST00000656419.1
  • ENST00000306090.11
  • ENST00000371081.5
  • ENST00000464960.5
  • ENST00000493744.5
  • ENST00000491348.5
  • ENST00000484504.5
  • ENST00000371085.7 Secondary (UniProt) ENSP00000360126.3 (3 phosphosites)
  • ENST00000313949.11 Secondary (UniProt, MANE clinical) ENSP00000323571.7 (7 phosphosites)
  • ENST00000371075.7
  • ENST00000371098.6
  • ENST00000371102.8
  • ENST00000371099.6
  • ENST00000306120.3
  • ENST00000354359.11
  • ENST00000371095.7
  • ENST00000265620.11
Phosphosites on the primary protein product

Tumor and normal comparison

Signed p-values
Data type Meta P BRCA CCRCC COAD GBM HNSCC LSCC LUAD OV PDAC UCEC

* 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
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

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

Associations of the protein abundance of GNAS with phenotypes and mutations

Signed p-values
Phenotype Meta P BRCA CCRCC COAD GBM HNSCC LSCC LUAD OV PDAC UCEC

* 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 GNAS

* 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 GNAS and the protein abundance of other genes

Signed p-values
Gene Meta P BRCA CCRCC COAD GBM HNSCC LSCC LUAD OV PDAC UCEC

* 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.