Human Gene Module / Chromosome 20 / GNAS

GNASGNAS complex locus

Score
-
No Rating
Autism Reports / Total Reports
4 / 8
Rare Variants / Common Variants
6 / 6
Aliases
GNAS, NESP55 (OLD symbol),  XL,  AHO,  GSA,  GSP,  POH,  XL2,  GPSA,  NESP,  SCG6,  GNAS1,  PHP1A ,  PHP1B,  GNASXL,  NESP55,  C20orf45,  MGC33735,  XLalphas,  dJ309F20.1.1,  dJ806M20.3. 3
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
20q13.32
Associated Disorders
-
Relevance to Autism

SNPs have been identified in the GNAS gene in a screening of autistic, OCD and ADHD patients (Kim et al., 2000). In addition, a rare mutation in the GNAS gene has been identified in an individual with ASD (Sanders et al., 2012).

Molecular Function

The encoded protein has GTPase activity.

Reports related to GNAS (8 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Wroe SF , et al. (2000) No -
2 Primary Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1. Kim SJ , et al. (2000) Yes OCD
3 Recent Recommendation Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. Jppner H , et al. (2006) No -
4 Support De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Sanders SJ , et al. (2012) Yes -
5 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
6 Support Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients. Chrot E , et al. (2017) No -
7 Support Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Li J , et al. (2017) Yes -
8 Support Exome Pool-Seq in neurodevelopmental disorders. Popp B , et al. (2017) No -
Rare Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1242_1265del24 N/A inframe_deletion Familial Maternal - 10860717 Kim SJ , et al. (2000)
c.510C>G p.Ile170Met missense_variant De novo - Simplex 22495306 Sanders SJ , et al. (2012)
c.2254G>A p.Ala752Thr missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.772C>T p.Arg258Trp missense_variant De novo - - 28708303 Chrot E , et al. (2017)
c.344G>A p.Trp115Ter stop_gained Familial - Simplex 28831199 Li J , et al. (2017)
c.475G>A p.Glu159Lys missense_variant De novo - - 29158550 Popp B , et al. (2017)
Common Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
A797G - upstream_gene_variant - - - 10860717 Kim SJ , et al. (2000)
c.1031C>T p.(=) synonymous_variant - - - 10860717 Kim SJ , et al. (2000)
c.1142C>T p.(=) synonymous_variant - - - 10860717 Kim SJ , et al. (2000)
c.1235C>T p.(=) synonymous_variant - - - 10860717 Kim SJ , et al. (2000)
C1649T N/A intron_variant - - - 10860717 Kim SJ , et al. (2000)
A1682G N/A intron_variant - - - 10860717 Kim SJ , et al. (2000)
CNVs associated with GNAS(1 CNVs)
20q13.32 3 Deletion 6  /  10
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
GNG5 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 Human Protein Binding 2787 P63218
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