C10orf71 (chromosome 10 open reading frame 71)

2014-11-01  

Identity

HGNC
LOCATION
10q11.23
LOCUSID
ALIAS
CEFIP
FUSION GENES

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

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/js/favicon/img/logo-atlas-4.svg