CWF19L1 (CWF19 like cell cycle control factor 1)

2014-11-01  

Identity

HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
C19L1,SCAR17,hDrn1
FUSION GENES

Other Information

Locus ID:

NCBI: 55280
MIM: 616120
HGNC: 25613
Ensembl: ENSG00000095485

Variants:

dbSNP: 55280
ClinVar: 55280
TCGA: ENSG00000095485
COSMIC: CWF19L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095485ENST00000354105Q69YN2
ENSG00000095485ENST00000354105A0A0S2Z5E9
ENSG00000095485ENST00000468709A0A0S2Z5Q6
ENSG00000095485ENST00000473842A0A286YF56
ENSG00000095485ENST00000482452A0A286YEP9

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
234777462013The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.14
253617842014Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.13
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
261979782016Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.5
270161542016Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.3
256718122015Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein.1

Citation

Dessen P

CWF19L1 (CWF19 like cell cycle control factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62208/cwf19l1