Identity
HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
ASC1p50,CGI-18,SMABF2,p50
FUSION GENES
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: 51008
MIM: 614215
HGNC: 24268
Ensembl: ENSG00000138303
Variants:
dbSNP: 51008
ClinVar: 51008
TCGA: ENSG00000138303
COSMIC: ASCC1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38750793 | 2024 | ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase. | 0 |
| 38750793 | 2024 | ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase. | 0 |
| 35838082 | 2022 | Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. | 1 |
| 35838082 | 2022 | Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. | 1 |
| 33931933 | 2021 | Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). | 2 |
| 34204919 | 2021 | Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. | 3 |
| 33931933 | 2021 | Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). | 2 |
| 34204919 | 2021 | Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. | 3 |
| 31880396 | 2020 | A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. | 6 |
| 32653958 | 2020 | Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women. | 2 |
| 31880396 | 2020 | A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. | 6 |
| 32653958 | 2020 | Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women. | 2 |
| 30327447 | 2019 | Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. | 11 |
| 30327447 | 2019 | Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. | 11 |
| 29997253 | 2018 | RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage. | 18 |
Citation
Dessen P
ASCC1 (activating signal cointegrator 1 complex subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46807/ascc1
