Hs04091504_cn

• Gene Symbol: MRPL40
• Assay Reference Genome Location: Chr.22:19432017 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 64976
• Gene Name: mitochondrial ribosomal protein L40
• Gene Aliases: L40mt, MRP-L22, MRP-L40, MRPL22, NLVCF, URIM
• Location: Chr.22:19431902-19436078 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL40	NM_003776.3	1	116	NP_003767.2
	AK123768.1	1	116

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834124	Chr.22:19263316 - 19451297 on Build GRCh38	Loss	CLTCL1 UFD1L MRPL40 HIRA C22orf39
nsv588218	Chr.22:19431016 - 19432328 on Build GRCh38	Loss	MRPL40 HIRA
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	TBX1 LOC100996432 DGCR14 MIR4761 RIMBP3 MRPL40 CDC45 C22orf29 C22orf39 SEPT5-GP1BB CLDN5 FAM230A SEPT5 LOC100996415 LOC642643 HIRA TXNRD2 GNB1L GGT3P SLC25A1 LINC00895 COMT CLTCL1 UFD1L DGCR10 LINC01311 USP18 PRODH LOC102725072 GSC2 LOC729461 DGCR11 DGCR9 TSSK2 DGCR2 PI4KAP1 LOC100996401 GP1BB DGCR6 DGCR5 TMEM191B
nsv834127	Chr.22:19414564 - 19656457 on Build GRCh38	Loss	CLDN5 LINC00895 UFD1L MRPL40 HIRA CDC45 C22orf39
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	TBX1 LINC00895 CLTCL1 UFD1L DGCR14 LINC01311 GSC2 MRPL40 CDC45 C22orf39 SEPT5-GP1BB CLDN5 TSSK2 DGCR2 SEPT5 HIRA GP1BB GNB1L SLC25A1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein

Gene Ontology Categories:

Process(es)

anatomical structure morphogenesis
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

protein binding
poly(A) RNA binding