Hs01199907_cn

• Gene Symbol: MRPL40
• Assay Reference Genome Location: Chr.22:19435641 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 Intron 3 - Exon 4

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	3087
	AK123768.1
	BC009707.1			AAH09707.1
	BM974354.1
	BX382916.2
	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	CLTCL1 MRPL40 UFD1L HIRA C22orf39
nsv834127	Chr.22:19414564 - 19656457 on Build GRCh38	Loss	MRPL40 UFD1L HIRA CLDN5 LINC00895 C22orf39 CDC45
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC100996401 DGCR9 LOC729461 LOC642643 C22orf29 MIR4761 GSC2 LOC100996432 DGCR6 MRPL40 DGCR14 GP1BB SLC25A1 LOC100996415 GNB1L CDC45 DGCR11 TSSK2 COMT TBX1 TXNRD2 LINC01311 LOC102725072 RIMBP3 PI4KAP1 TMEM191B C22orf39 DGCR10 USP18 FAM230A CLTCL1 PRODH SEPT5-GP1BB DGCR5 UFD1L HIRA CLDN5 GGT3P DGCR2 SEPT5 LINC00895
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	TBX1 LINC01311 GSC2 C22orf39 CLTCL1 SEPT5-GP1BB MRPL40 DGCR14 GP1BB UFD1L HIRA CLDN5 SLC25A1 DGCR2 SEPT5 LINC00895 GNB1L CDC45 TSSK2

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