C1orf194 (chromosome 1 open reading frame 194)

2014-11-01  

Identity

HGNC
C1orf194
LOCATION
1p13.3
LOCUSID
127003
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 127003
MIM: 618682
HGNC: 32331
Ensembl: ENSG00000179902

Variants:

dbSNP: 127003
ClinVar: 127003
TCGA: ENSG00000179902
COSMIC: C1orf194

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179902ENST00000369945B1ALJ5
ENSG00000179902ENST00000369948Q5T5A4
ENSG00000179902ENST00000369949Q5T5A4
ENSG00000179902ENST00000460065E9PRR4
ENSG00000179902ENST00000462402E9PLX1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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
325924722020C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.4
325924722020C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.4
311994542019Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.12
311994542019Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.12

Citation

Dessen P

C1orf194 (chromosome 1 open reading frame 194)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61072/favicon/teaching-explorer/meetings/