Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 113246
MIM: 615140
HGNC: 29521
Ensembl: ENSG00000111678
Variants:
dbSNP: 113246
ClinVar: 113246
TCGA: ENSG00000111678
COSMIC: C12orf57
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 24798461 | 2014 | Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. | 3 |
| 24798461 | 2014 | Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. | 3 |
| 23453665 | 2013 | Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. | 18 |
| 23453665 | 2013 | Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. | 18 |
| 19204726 | 2009 | Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. | 93 |
| 19204726 | 2009 | Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. | 93 |
Citation
Dessen P
C12orf57 (chromosome 12 open reading frame 57)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60916/c12orf57-(chromosome-12-open-reading-frame-57)
