C14orf39 (chromosome 14 open reading frame 39)

2014-11-01  

Identity

HGNC
C14orf39
LOCATION
14q23.1
LOCUSID
317761
ALIAS
POF18,SPGF52,Six6os1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 317761
MIM: 617307
HGNC: 19849
Ensembl: ENSG00000179008

Variants:

dbSNP: 317761
ClinVar: 317761
TCGA: ENSG00000179008
COSMIC: C14orf39

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179008ENST00000321731Q8N1H7
ENSG00000179008ENST00000498565H0YJQ0
ENSG00000179008ENST00000555476G3V493
ENSG00000179008ENST00000556799G3V3U9
ENSG00000179008ENST00000557138G3V257

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
N/A

References

Pubmed IDYearTitleCitations
347186202022Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.7
353051482022In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.3
347186202022Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.7
353051482022In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.3
335082332021Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.28
335082332021Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.28

Citation

Dessen P

C14orf39 (chromosome 14 open reading frame 39)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60941/meetings/teaching-explorer/js/lib/all.min.js