C10orf71 (chromosome 10 open reading frame 71)

2014-11-01  

Identity

HGNC
C10orf71
LOCATION
10q11.23
LOCUSID
118461
ALIAS
CEFIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 118461
HGNC: 26973
Ensembl: ENSG00000177354

Variants:

dbSNP: 118461
ClinVar: 118461
TCGA: ENSG00000177354
COSMIC: C10orf71

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177354ENST00000374144Q711Q0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

References

Pubmed IDYearTitleCitations
389502882024Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.0
389502882024Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.0
371793182023Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.0
371793182023Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.0
287170082017The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.13
287170082017The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.13

Citation

Dessen P

C10orf71 (chromosome 10 open reading frame 71)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60868/gene-explorer/haematological-explorer/js/_common.js