Hs00644153_cn

• Gene Symbol: MALSU1
• Assay Reference Genome Location: Chr.7:23307927 on build GRCh38
• Cytoband: 7p15.3

Target Gene Details

• Entrez Gene ID: 115416
• Gene Name: mitochondrial assembly of ribosomal large subunit 1
• Gene Aliases: C7orf30, mtRsfA
• Location: Chr.7:23298744-23309573 on Build GRCh38
• Assay Gene Location: Overlaps Exon 4 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MALSU1	NM_138446.1			NP_612455.1
	XM_017011731.1			XP_016867220.1
	AK127742.1
	AK316559.1
	AL832885.1
	BC012331.1			AAH12331.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv606410	Chr.7:23293751 - 23343516 on Build GRCh38	Loss	IGF2BP3 MALSU1
nsv1016316	Chr.7:23221900 - 23318018 on Build GRCh38	Gain	IGF2BP3 MALSU1 GPNMB LOC101927890

More Information

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

Gene Ontology Categories:

Process(es)

ribosomal large subunit biogenesis
negative regulation of mitochondrial translation
negative regulation of ribosome biogenesis

Function(s)

protein binding
ribosomal large subunit binding