Gene: FOXP1

Alternate names for this Gene: 12CC4|HSPC215|MFH|QRF1|hFKH1B

Gene Summary: This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 3

Location in Chromosome : 3p13

Description of this Gene: forkhead box P1

Type of Gene: protein-coding

rs9874207 in FOXP1 gene and Anorexia Nervosa PMID 31308545 2019 Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

rs35540156 in FOXP1 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs35540156 in FOXP1 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs35540156 in FOXP1 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1864896 in FOXP1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs6805189 in FOXP1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs6803008 in FOXP1 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs36023390 in FOXP1 gene and Cholangitis, Sclerosing PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

rs35956082 in FOXP1 gene and Developmental absence of tooth PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs1653969 in FOXP1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs1553667322 in FOXP1 gene and Dysmorphic features PMID 24214399 2013 FOXP1 mutations cause intellectual disability and a recognizable phenotype.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 20950788 2010 De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

PMID 26647308 2016 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

PMID 25853299 2015 A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

PMID 12692134 2003 Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors.

PMID 22670142 2012 Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 20571508 2010 Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

rs7630905 in FOXP1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17699658 in FOXP1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs35480566 in FOXP1 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs35956082 in FOXP1 gene and Hypodontia PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs35956082 in FOXP1 gene and Hypodontia Oligodontia with Orofacial Cleft PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs2593855 in FOXP1 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs11720523 in FOXP1 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs17653411 in FOXP1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs587777855 in FOXP1 gene and MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES PMID 26647308 2016 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

PMID 20950788 2010 De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

PMID 28741757 2017 Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

rs17699658 in FOXP1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs9828629 in FOXP1 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs797045586 in FOXP1 gene and Multiple congenital anomalies PMID 26647308 2016 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25853299 2015 A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

PMID 12692134 2003 Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors.

PMID 20950788 2010 De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

PMID 24214399 2013 FOXP1 mutations cause intellectual disability and a recognizable phenotype.

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 20571508 2010 Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

PMID 22670142 2012 Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.

rs17718444 in FOXP1 gene and Nasal Polyps PMID 30643255 2019 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.

rs35956082 in FOXP1 gene and Oligodontia PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs17699658 in FOXP1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs62244881 in FOXP1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

rs62246017 in FOXP1 gene and Squamous cell carcinoma PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

rs35956082 in FOXP1 gene and TOOTH AGENESIS, SELECTIVE, 9 PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs35956082 in FOXP1 gene and Tooth Agenesis, Familial PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs35956082 in FOXP1 gene and Tooth Agenesis, Selective, With Orofacial Cleft PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs35956082 in FOXP1 gene and Tooth development and eruption disorder PMID 29364747 2018 Rare and Common Variants Conferring Risk of Tooth Agenesis.

rs35480566 in FOXP1 gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17008723 in FOXP1 gene and Vitiligo PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs6798507 in FOXP1 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.