Gene: BPTF
Alternate names for this Gene: FAC1|FALZ|NEDDFL|NURF301
Gene Summary: This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely.
Gene is located in Chromosome: 17
Location in Chromosome : 17q24.2
Description of this Gene: bromodomain PHD finger transcription factor
Type of Gene: protein-coding
rs1135401778 in
BPTF gene and
Abnormal aggressive, impulsive or violent behavior
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Abnormality of mouth size
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Abnormality of pain sensation
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Abnormality of the periventricular white matter
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs7216064 in
BPTF gene and
Adenocarcinoma of lung (disorder)
PMID 27501781 2016 Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.
PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.
PMID 22797724 2012 A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
rs1135401778 in
BPTF gene and
Ataxia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555649483 in
BPTF gene and
Autistic behavior
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Bilateral Cryptorchidism
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs60432162 in
BPTF gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs12449442 in
BPTF gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
rs12449442 in
BPTF gene and
Body mass index
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1425998598 in
BPTF gene and
Broad hallux
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Broad lateral eyebrow
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Broad nasal tip
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Bulbous nose
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555649483 in
BPTF gene and
Byzanthine arch palate
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Cataract
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639411 in
BPTF gene and
Choanal Atresia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Chronic diarrhea
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Clinodactyly of the 5th finger
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639411 in
BPTF gene and
Constipation
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs753044214 in
BPTF gene and
Dysmorphic features
PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
PMID 26014595 2015 ClinGen--the Clinical Genome Resource.
PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.
PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.
PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.
PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.
PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.
PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.
PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.
PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.
PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.
PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.
PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.
rs60856912 in
BPTF gene and
Endometrial Carcinoma
PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.
rs4791212 in
BPTF gene and
Eosinophil count procedure
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.
rs1135401778 in
BPTF gene and
Erythema
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Exocrine pancreatic insufficiency
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555652383 in
BPTF gene and
Exotropia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Expressive language delay
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555652383 in
BPTF gene and
Fifth finger distal phalanx clinodactyly
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555652383 in
BPTF gene and
Flatfoot
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Gastrointestinal dysmotility
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Generalized hypotonia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Global developmental delay
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Grammar-specific speech disorder
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Headache
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs61676547 in
BPTF gene and
High density lipoprotein measurement
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs1555639076 in
BPTF gene and
Hip Dysplasia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Isolated somatotropin deficiency
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Lack of subcutaneous fatty tissue
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Large nose
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs782736894 in
BPTF gene and
Leukoaraiosis
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Long nose
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555649483 in
BPTF gene and
Low hanging columella
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555649483 in
BPTF gene and
Microcephaly (physical finding)
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Micrognathism
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Mild Mental Retardation
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs782736894 in
BPTF gene and
Mild global developmental delay
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Moderate intellectual disability
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs753044214 in
BPTF gene and
Multiple congenital anomalies
PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.
PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.
PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.
PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.
PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.
PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.
PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.
PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.
PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.
PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.
PMID 26014595 2015 ClinGen--the Clinical Genome Resource.
rs1555639076 in
BPTF gene and
Myopia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs200595745 in
BPTF gene and
Non-Small Cell Lung Carcinoma
PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.
rs1425998598 in
BPTF gene and
Overriding toe
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639411 in
BPTF gene and
Patent ductus arteriosus
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Pediatric failure to thrive
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Persistent pupillary membranes
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555693714 in
BPTF gene and
Poor school performance
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs782736894 in
BPTF gene and
Premature eruption of permanent teeth
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Prominent supraorbital ridges
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs782736894 in
BPTF gene and
Protruding ear
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs12602912 in
BPTF gene and
Psoriasis
PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.
rs1425998598 in
BPTF gene and
Range of joint movement increased
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Sandal gap
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Secondary microcephaly
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555652383 in
BPTF gene and
Severe expressive language delay
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555652383 in
BPTF gene and
Severe global developmental delay
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Severe myopia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Short palpebral fissure
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1135401778 in
BPTF gene and
Sleep disturbances
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555649483 in
BPTF gene and
Slender finger
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555649483 in
BPTF gene and
Slender toe
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Small hand
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Small pituitary gland
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1425998598 in
BPTF gene and
Small, conical teeth
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555639076 in
BPTF gene and
Telecanthus
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs782736894 in
BPTF gene and
Thick lower lip vermilion
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555649483 in
BPTF gene and
Thin upper lip vermilion
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1555652383 in
BPTF gene and
Underdeveloped nasal alae
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs12449442 in
BPTF gene and
Waist-Hip Ratio
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
rs2080090 in
BPTF gene and
body fat percentage (physical finding)
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.