Gene Name	GNAS
Gene ID	2778
Gene Full Name	GNAS complex locus
Gene Alias	AHO|AIMAH1|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Transcripts	ENSG00000087460
Virus	HBV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm;Plasma membrane, Cytosol;
Membrane Info	Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Uniport_ID	O95467, P63092, Q5JWF2
HGNC ID	HGNC:4392
OMIM ID	139320
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]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
1010251	chr20	12	1	0	13	View

Data ID	Experiment type	Sample number	Platform
GSE252863	scRNA-seq	10	Illumina HiSeq 2500 (Homo sapiens)
GSE236281	RNA-seq	12	Illumina MiSeq (Homo sapiens)
C   GSE35465	Chip-seq;RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
GSE199850	scRNA-seq	1	HiSeq X Ten (Homo sapiens)
C   GSE68402	Chip-seq	26	Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens)
S   GSE247322	scRNA-seq	27	Illumina NovaSeq 6000 (Homo sapiens)
TCGA_LIHC_HBV	DNA methylation sequencing;RNA-seq	97	TCGA
GSE270937	DNA methylation sequencing	35	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE270130	Chip-seq	27	Illumina NovaSeq 6000 (Homo sapiens)
GSE224901	RNA-seq	21	Illumina NovaSeq 6000 (Homo sapiens)
GSE100400	Chip-seq;RNA-seq;4C_cccDNA	31	Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus)
GSE173897	RNA-seq	95	Illumina HiSeq 4000 (Homo sapiens)
GSE262515	RNA-seq	21	Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus)
GSE110345	RNA-seq	4	Illumina HiSeq 2500 (Homo sapiens)
C   GSE131257	ATAC-seq;RNA-seq	19	Illumina HiSeq 2500 (Homo sapiens)
GSE94660	RNA-seq	42	Illumina HiSeq 2500 (Homo sapiens)

• scRNA data
• Genome binding/occupancy profiling

When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.

> Dataset: GSE247322 - Gene expression in cell subsets