Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80816
MIM: 615115
HGNC: 29357
Ensembl: ENSG00000141431
Variants:
dbSNP: 80816
ClinVar: 80816
TCGA: ENSG00000141431
COSMIC: ASXL3
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36177608 | 2023 | Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. | 5 |
| 36177608 | 2023 | Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. | 5 |
| 32696347 | 2021 | Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. | 16 |
| 33242595 | 2021 | Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. | 2 |
| 33751773 | 2021 | Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. | 7 |
| 34436830 | 2021 | Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. | 5 |
| 32696347 | 2021 | Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. | 16 |
| 33242595 | 2021 | Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. | 2 |
| 33751773 | 2021 | Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. | 7 |
| 34436830 | 2021 | Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. | 5 |
| 32240826 | 2020 | Mosaicism in ASXL3-related syndrome: Description of five patients from three families. | 3 |
| 32669118 | 2020 | ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer. | 25 |
| 32240826 | 2020 | Mosaicism in ASXL3-related syndrome: Description of five patients from three families. | 3 |
| 32669118 | 2020 | ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer. | 25 |
| 29305346 | 2018 | A 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/asxl3-(asxl-transcriptional-regulator-3)
