Hs03018872_cn

• Gene Symbol: MRPL1
• Assay Reference Genome Location: Chr.4:77885297 on build GRCh38
• Cytoband: 4q21.1

Target Gene Details

• Entrez Gene ID: 65008
• Gene Name: mitochondrial ribosomal protein L1
• Gene Aliases: BM022, L1MT, MRP-L1
• Location: Chr.4:77861955-77952790 on Build GRCh38
• Assay Gene Location: Overlaps Exon 6 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL1	NM_020236.3			NP_064621.3
	XM_011532198.2			XP_011530500.1
	XM_011532199.1			XP_011530501.1
	AB049474.1			BAB40180.1
	AF212225.1			AAF87327.1
	AK024791.1			BAB15005.1
	AK315600.1
	BC014356.1			AAH14356.1
	BC015109.1			AAH15109.1
	BC017765.1
	BC032595.1			AAH32595.1
	CR457191.1			CAG33472.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1010714	Chr.4:77821351 - 78069876 on Build GRCh38	Gain	MRPL1 FRAS1
dgv9137n54	Chr.4:77827823 - 78060765 on Build GRCh38	Gain	MRPL1 FRAS1
esv2752050	Chr.4:77772157 - 78054167 on Build GRCh38	Gain	MRPL1 CNOT6L

More Information

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

Panther Classification:

Molecular Function -

ribosomal protein, translational protein

Gene Ontology Categories:

Process(es)

maturation of LSU-rRNA
translation
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

RNA binding
structural constituent of ribosome
protein binding
poly(A) RNA binding