GON7 (GON7 subunit of KEOPS complex)

2016-11-01  

Identity

HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
C14orf142,PNAS-127

Other Information

Locus ID:

NCBI: 84520
MIM: 617436
HGNC: 20356
Ensembl: ENSG00000170270

Variants:

dbSNP: 84520
ClinVar: 84520
TCGA: ENSG00000170270
COSMIC: GON7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170270ENST00000306954Q9BXV9
ENSG00000170270ENST00000556566H0YJA8

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
314816692019Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.1

Citation

Dessen P

GON7 (GON7 subunit of KEOPS complex)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78666/gon7