Hs04077215_cn

• Gene Symbol: MRPL40
• Assay Reference Genome Location: Chr.22:19434156 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL40	NM_001318151.1			NP_001305080.1
	NM_001318152.1			NP_001305081.1
	NM_003776.3			NP_003767.2
	AF034091.1			AAC70904.1
	AJ295637.1			CAC00535.1
	AK057708.1	1	1602
	AK123768.1
	BC009707.1			AAH09707.1
	BM974354.1
	BP309678.1
	BX382916.2
	CN409565.1
	CR456532.1			CAG30418.1

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

More Information

• Set Membership: Intragenic, Intronic, Non-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