ASXL3 (ASXL transcriptional regulator 3)

2016-01-01  

Identity

HGNC
ASXL3
LOCATION
18q12.1
LOCUSID
80816
ALIAS
BRPS,KIAA1713

Other Information

Locus ID:

NCBI: 80816
MIM: 615115
HGNC: 29357
Ensembl: ENSG00000141431

Variants:

dbSNP: 80816
ClinVar: 80816
TCGA: ENSG00000141431
COSMIC: ASXL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141431ENST00000269197Q9C0F0
ENSG00000141431ENST00000592288K7EJ76
ENSG00000141431ENST00000592541K7EMU6
ENSG00000141431ENST00000593195K7ELG8
ENSG00000141431ENST00000642541A0A2R8Y461

Expression (GTEx)

0
1
2
3
4
5
6
7
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
361776082023Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.5
361776082023Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.5
326963472021Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.16
332425952021Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.2
337517732021Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.7
344368302021Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.5
326963472021Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.16
332425952021Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.2
337517732021Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.7
344368302021Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.5
322408262020Mosaicism in ASXL3-related syndrome: Description of five patients from three families.3
326691182020ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer.25
322408262020Mosaicism in ASXL3-related syndrome: Description of five patients from three families.3
326691182020ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer.25
293053462018A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.16

Citation

Dessen P

ASXL3 (ASXL transcriptional regulator 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55606/js/favicon/css/template-card.css