Gene: ARID1B

Alternate names for this Gene: 6A3-5|BAF250B|BRIGHT|CSS1|DAN15|ELD/OSA1|MRD12|OSA2|P250R

Gene Summary: This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.3

Description of this Gene: AT-rich interaction domain 1B

Type of Gene: protein-coding

rs387907144 in ARID1B gene and Abnormal platelet function PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs9383820 in ARID1B gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs387907144 in ARID1B gene and Autistic behavior PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Bilateral Cryptorchidism PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Broad nasal tip PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Byzanthine arch palate PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs11967485 in ARID1B gene and Calcium level result PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

rs11967485 in ARID1B gene and Calcium measurement PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

rs387907144 in ARID1B gene and Cerebellar vermis hypoplasia PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Congenital Epicanthus PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Delayed eruption of primary teeth PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Delayed fine motor development PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Delayed speech and language development PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs112140754 in ARID1B gene and Diastolic blood pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

rs387907144 in ARID1B gene and Dilated fourth ventricle PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Downward slant of palpebral fissure PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs1554226131 in ARID1B gene and Dysmorphic features PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

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

rs387907144 in ARID1B gene and Esotropia PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Feeding difficulties in infancy PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Global developmental delay PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Hyperkeratosis pilaris PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Hypoplasia of corpus callosum PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs287879 in ARID1B gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs387907144 in ARID1B gene and Laryngomalacia PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Long eyelashes PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Low-set, posteriorly rotated ears PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Lumbosacral hirsutism PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs1554236054 in ARID1B gene and Movement Disorders PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

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

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

rs1554231814 in ARID1B gene and Multiple congenital anomalies PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

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

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1554226131 in ARID1B gene and Muscle hypotonia PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

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

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Nystagmus PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Pediatric failure to thrive PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Periorbital fullness PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Poor suck PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Posterior fossa cyst PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs17322427 in ARID1B gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs387907144 in ARID1B gene and Seizures PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs12204046 in ARID1B gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs387907144 in ARID1B gene and Short stature PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Strabismus PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Thick lower lip vermilion PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs387907144 in ARID1B gene and Thin upper lip vermilion PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs387907144 in ARID1B gene and Vesico-Ureteral Reflux PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.