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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
258350952015Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.16
266473122016De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.15
281004732017Delineating 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.14
279010412017Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.9
270756892016Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.8
258562062016Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21).6
293053462018A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.4
289358132017ASXL3 Is a Novel Pluripotency Factor in Human Respiratory Epithelial Cells and a Potential Therapeutic Target in Small Cell Lung Cancer.2
299823342018Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas.2

Citation

Dessen P

ASXL3 (ASXL transcriptional regulator 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55606/asxl3-(asxl-transcriptional-regulator-3)