Hs02069281_cn

• Gene Symbol: MRPL57
• Assay Reference Genome Location: Chr.13:21176594 on build GRCh38
• Cytoband: 13q12.11

Target Gene Details

• Entrez Gene ID: 78988
• Gene Name: mitochondrial ribosomal protein L57
• Gene Aliases: MRP63, bMRP63
• Location: Chr.13:21176233-21179084 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL57	NM_024026.4	1	362	NP_076931.1
	AW445203.1	1	93

Target Gene Details

• Entrez Gene ID: 221150
• Gene Name: spindle and kinetochore associated complex subunit 3
• Gene Aliases: C13orf3, RAMA1
• Location: Chr.13:21153595-21176602 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SKA3	NM_001166017.1			NP_001159489.1
	NM_145061.5			NP_659498.4
	XM_011534994.1			XP_011533296.1
	AF361358.1			AAO13796.1
	AK090584.1			BAC03484.1
	AK307976.1
	AK314864.1
	BC048988.1			AAH48988.1
	BI460315.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1037082	Chr.13:20932196 - 21204957 on Build GRCh38	Gain	SAP18 LINC00367 LATS2 SKA3 MRPL57

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein, translational protein

Gene Ontology Categories:

Process(es)

mitochondrial translation
chromosome segregation
mitotic nuclear division
regulation of microtubule polymerization or depolymerization
cell division

Function(s)

structural constituent of ribosome
protein binding