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
364534712023Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.0
377522132023Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.0
364534712023Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.0
377522132023Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.0
363573192022Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.1
363573192022Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.1
330122732021A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.3
330122732021A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.3
261979782016Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.9
270161542016Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.5
261979782016Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.9
270161542016Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.5
256718122015Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein.5
256718122015Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein.5
253617842014Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.17

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/meetings/js/favicon/apple-touch-icon.png