RPS10 Chromosome 6

Ribosomal protein S10
11 variants 11 Health Risk

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What This Gene Does
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000124614
Associated Conditions (3)
Diamond-Blackfan anemia 9
Diamond-Blackfan anemia
RPS10-related disorder
Key Variants
All Variants (11)
RSID Category Clinical Significance Conditions
RS375500787 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
RS781484971 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 9, Diamond-Blackfan anemia
RS1765648528 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1765892950 Health Risk Likely pathogenic
RS2533019856 Health Risk Likely pathogenic RPS10-related disorder, RPS10-related disorder
RS1581931439 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1581931541 Health Risk Pathogenic Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
RS2113806114 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2533030608 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 9, Diamond-Blackfan anemia
RS267607021 Health Risk Pathogenic Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
RS267607022 Health Risk Pathogenic Diamond-Blackfan anemia 9, Diamond-Blackfan anemia, Diamond-Blackfan anemia 9
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