Gene: TBL1XR1

Alternate names for this Gene: C21|DC42|IRA1|MRD41|TBLR1

Gene Summary: This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors.

Gene is located in Chromosome: 3

Location in Chromosome : 3q26.32

Description of this Gene: TBL1X receptor 1

Type of Gene: protein-coding

rs62296577 in TBL1XR1 gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs7626218 in TBL1XR1 gene and Childhood asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs1553810244 in TBL1XR1 gene and Dysmorphic features PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.

PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PMID 26740553 2016 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

PMID 28687524 2017 Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

PMID 28588275 2017 De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.

PMID 25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

PMID 28562391 2017 Pierpont syndrome: report of a new patient.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24891185 2014 De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

rs6804442 in TBL1XR1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs878854401 in TBL1XR1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 27133561 2016 Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

rs1553810244 in TBL1XR1 gene and Muscle hypotonia PMID 26740553 2016 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

PMID 28687524 2017 Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

PMID 28588275 2017 De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.

PMID 28562391 2017 Pierpont syndrome: report of a new patient.

PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.

PMID 25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24891185 2014 De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

rs7426956 in TBL1XR1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs878854402 in TBL1XR1 gene and Plantar Lipomatosis, Unusual Facies, and Developmental Delay PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.

rs7617950 in TBL1XR1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7617950 in TBL1XR1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7626218 in TBL1XR1 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs58823914 in TBL1XR1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.