CWF19L1 (CWF19 like cell cycle control factor 1)

2014-11-01 Affiliation

Identity

HGNC

CWF19L1

LOCATION

10q24.31

LOCUSID

55280

ALIAS

C19L1,SCAR17,hDrn1

FUSION GENES

Show Gene Fusions

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: 55280
MIM: 616120
HGNC: 25613
Ensembl: ENSG00000095485

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000095485	ENST00000354105	Q69YN2
ENSG00000095485	ENST00000354105	A0A0S2Z5E9
ENSG00000095485	ENST00000468709	A0A0S2Z5Q6
ENSG00000095485	ENST00000473842	A0A286YF56
ENSG00000095485	ENST00000482452	A0A286YEP9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36453471	2023	Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.	0
37752213	2023	Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.	0
36453471	2023	Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.	0
37752213	2023	Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.	0
36357319	2022	Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.	1
36357319	2022	Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.	1
33012273	2021	A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.	3
33012273	2021	A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.	3
26197978	2016	Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.	9
27016154	2016	Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.	5
26197978	2016	Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.	9
27016154	2016	Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.	5
25671812	2015	Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein.	5
25671812	2015	Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein.	5
25361784	2014	Homozygous 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/tumors-explorer/