CFAP69 (cilia and flagella associated protein 69)

2014-08-01  

Identity

HGNC
CFAP69
LOCATION
7q21.13
LOCUSID
79846
ALIAS
C7orf63,FAP69,SPGF24
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79846
MIM: 617949
HGNC: 26107
Ensembl: ENSG00000105792

Variants:

dbSNP: 79846
ClinVar: 79846
TCGA: ENSG00000105792
COSMIC: CFAP69

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105792ENST00000389297A5D8W1
ENSG00000105792ENST00000412839H7C468
ENSG00000105792ENST00000418199H7C076
ENSG00000105792ENST00000427396F8WBX7
ENSG00000105792ENST00000445156H7C3Z7
ENSG00000105792ENST00000449577H7BZV2
ENSG00000105792ENST00000451029A5D8W1
ENSG00000105792ENST00000457170H7C002
ENSG00000105792ENST00000497910A5D8W1

Expression (GTEx)

0
5
10
15
20
25
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
373923062023A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review.0
373923062023A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review.0
304152122019Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.35
304152122019Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.35
296063012018Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.61
296063012018Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.61
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
182881322008DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.51
182881322008DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.51

Citation

Dessen P

CFAP69 (cilia and flagella associated protein 69)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54841/cfap69-(cilia-and-flagella-associated-protein-69)