CFAP57 (cilia and flagella associated protein 57)

2014-11-01  

Identity

HGNC
CFAP57
LOCATION
1p34.2
LOCUSID
149465
ALIAS
VWS2,WDR65

Other Information

Locus ID:

NCBI: 149465
MIM: 614259
HGNC: 26485
Ensembl: ENSG00000243710

Variants:

dbSNP: 149465
ClinVar: 149465
TCGA: ENSG00000243710
COSMIC: CFAP57

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000243710ENST00000372492Q96MR6
ENSG00000243710ENST00000428122H7C4D4
ENSG00000243710ENST00000525227E9PP89
ENSG00000243710ENST00000528956Q96MR6
ENSG00000243710ENST00000529956E9PRV3
ENSG00000243710ENST00000533339E9PP89
ENSG00000243710ENST00000610710A0A087WVY5

Expression (GTEx)

0
5
10
15
20
25
30
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
215742442011Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.7

Citation

Dessen P

CFAP57 (cilia and flagella associated protein 57)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61761/cfap57-(cilia-and-flagella-associated-protein-57)