CFAP58 (cilia and flagella associated protein 58)

2016-12-01  

Identity

HGNC
LOCATION
10q25.1
LOCUSID
ALIAS
C10orf80,CCDC147,SPGF49,bA127L20.4,bA127L20.5,bA554P13.1

Other Information

Locus ID:

NCBI: 159686
HGNC: 26676
Ensembl: ENSG00000120051

Variants:

dbSNP: 159686
ClinVar: 159686
TCGA: ENSG00000120051
COSMIC: CFAP58

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120051ENST00000369703Q9H4Y4
ENSG00000120051ENST00000369704Q5T655

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
333140882021Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.7
333140882021Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.7
327910352020Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.44
327910352020Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.44
267627392016Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.20
267627392016Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.20

Citation

Dessen P

CFAP58 (cilia and flagella associated protein 58)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56673/teaching-explorer/gene-fusions-explorer/css/lib/bootstrap.min.css