FRA10AC1 (FRA10A associated CGG repeat 1)

2014-11-01  

Identity

HGNC
LOCATION
10q23.33
LOCUSID
ALIAS
C10orf4,F26C11.1-like,FRA10A
FUSION GENES

Other Information

Locus ID:

NCBI: 118924
MIM: 608866
HGNC: 1162
Ensembl: ENSG00000148690

Variants:

dbSNP: 118924
ClinVar: 118924
TCGA: ENSG00000148690
COSMIC: FRA10AC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148690ENST00000359204Q70Z53

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
346943672022Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.5
346943672022Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.5
262528722015Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.29
262528722015Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.29
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83

Citation

Dessen P

FRA10AC1 (FRA10A associated CGG repeat 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63582/js/lib/teaching-explorer/favicon/manifest.json