Gene: ASXL3
Alternate names for this Gene: BRPS|KIAA1713
Gene Summary: This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features.
Gene is located in Chromosome: 18
Location in Chromosome : 18q12.1
Description of this Gene: ASXL transcriptional regulator 3
Type of Gene: protein-coding
rs1555743003 in
ASXL3 gene and
Abnormal delivery
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Abnormal epiglottis morphology
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Abnormality of nasopharyngeal adenoids
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Abnormality of the columella
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Abnormality of the tympanic membrane
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Absent speech
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Anxiety
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Asthma
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
BAINBRIDGE-ROPERS SYNDROME
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs11081818 in
ASXL3 gene and
Body mass index
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1555743003 in
ASXL3 gene and
Broad hallux
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Broad thumbs
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Broad-based gait
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Conductive hearing loss
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Convex nasal ridge
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Cupped ears (finding)
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Delayed Puberty
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs10164193 in
ASXL3 gene and
Diastolic blood pressure
PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
rs1555742087 in
ASXL3 gene and
Dysmorphic features
PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Fibular bowing
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Flatfoot
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Flexion contracture
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Flexion contracture of proximal interphalangeal joint
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Gait, Shuffling
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Glossoptosis
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Growth delay
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Highly arched eyebrow
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Hyperactive deep tendon reflexes
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Induced vaginal delivery
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Kyphoscoliosis deformity of spine
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Laryngomalacia
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Leg Length Inequality
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Long neck
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Low-set, posteriorly rotated ears
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Madelung Deformity
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Metopic synostosis
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555742087 in
ASXL3 gene and
Multiple congenital anomalies
PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
rs1555743003 in
ASXL3 gene and
Multiple skeletal anomalies
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Muscle Rigidity
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555742500 in
ASXL3 gene and
Muscle hypotonia
PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
rs1555743003 in
ASXL3 gene and
Narrow palate
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Orbital separation diminished
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Pediatric failure to thrive
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Poor suck
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Posteriorly rotated ear
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Progressive sensorineural hearing impairment
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Prominent digit pad
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Prominent nasal bridge
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Severe global developmental delay
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Short palpebral fissure
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Short philtrum
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Sleep disturbances
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Smooth philtrum
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Sparse and thin eyebrow
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Strabismus
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs7226575 in
ASXL3 gene and
Systolic Pressure
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
rs1555743003 in
ASXL3 gene and
Thin lips
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Toenail dysplasia
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Tooth, Supernumerary
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Ulnar deviation of hand
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Underdeveloped nasal alae
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Upward slant of palpebral fissure
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555743003 in
ASXL3 gene and
Urinary Incontinence
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs7228141 in
ASXL3 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.