Hs01234630_cn

• Gene Symbol: MRPL40
• Assay Reference Genome Location: Chr.22:19433312 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: Overlaps Exon 2 - 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	758
	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	C22orf39 UFD1L CLTCL1 MRPL40 HIRA
nsv834127	Chr.22:19414564 - 19656457 on Build GRCh38	Loss	C22orf39 UFD1L LINC00895 MRPL40 CDC45 HIRA CLDN5
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	C22orf39 DGCR10 UFD1L GSC2 MRPL40 TBX1 FAM230A TSSK2 GP1BB RIMBP3 LOC729461 CLTCL1 LOC642643 DGCR11 LOC100996401 DGCR9 USP18 CLDN5 LOC100996432 LOC102725072 TXNRD2 MIR4761 PI4KAP1 DGCR2 LINC01311 CDC45 DGCR5 SEPT5 COMT LINC00895 DGCR6 PRODH SEPT5-GP1BB LOC100996415 SLC25A1 GNB1L GGT3P DGCR14 HIRA TMEM191B C22orf29
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	C22orf39 UFD1L GSC2 MRPL40 DGCR2 LINC01311 CDC45 TBX1 TSSK2 GP1BB SEPT5 CLTCL1 LINC00895 SEPT5-GP1BB SLC25A1 GNB1L DGCR14 HIRA CLDN5

More Information

• Set Membership: Intragenic, 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