FAM120C (family with sequence similarity 120C)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
CXorf17,ORF34

Other Information

Locus ID:

NCBI: 54954
MIM: 300741
HGNC: 16949
Ensembl: ENSG00000184083

Variants:

dbSNP: 54954
ClinVar: 54954
TCGA: ENSG00000184083
COSMIC: FAM120C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184083ENST00000328235F8W881
ENSG00000184083ENST00000375180Q9NX05
ENSG00000184083ENST00000477084Q9NX05

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184983742008Autism-associated familial microdeletion of Xp11.22.22
184983742008Autism-associated familial microdeletion of Xp11.22.22
252583342014A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.5

Citation

Dessen P

FAM120C (family with sequence similarity 120C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63004/fam120c