C1orf194 (chromosome 1 open reading frame 194)

2014-11-01  

Identity

HGNC
LOCATION
1p13.3
LOCUSID
ALIAS
-
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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/css/lib/bootstrap.min.css