Hs01416849_cn

• Gene Symbol: MRPL43
• Assay Reference Genome Location: Chr.10:100985245 on build GRCh38
• Cytoband: 10q24.31

Target Gene Details

• Entrez Gene ID: 84545
• Gene Name: mitochondrial ribosomal protein L43
• Gene Aliases: L43mt, MRP-L43, bMRP36a
• Location: Chr.10:100977822-100987519 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL43	NM_176792.2			NP_789762.1
	NM_176793.1			NP_789763.1
	NM_176794.1			NP_789764.1
	XM_006718035.3			XP_006718098.1
	AF086122.1
	AK095556.1			BAC04572.1
	AK300237.1
	AW513604.1
	BC041165.1			AAH41165.1
	BC053373.1			AAH53373.1
	BU072283.1

Target Gene Details

• Entrez Gene ID: 57715
• Gene Name: semaphorin 4G
• Gene Aliases: -
• Location: Chr.10:100969483-100985618 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEMA4G	NM_001203244.1	14	2845	NP_001190173.1
	NM_017893.3	14	4030	NP_060363.2
	XM_005270008.2	15	4104	XP_005270065.1
	AB046839.1	14	3724
	AK000597.1	1	822	BAA91278.1
	AK297431.1	14	2540
	BC020960.1	2	803	AAH20960.1
	BC051030.1	16	4285	AAH51030.1
	BC110382.1	14	3703
	BC128579.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831965	Chr.10:100916724 - 101082796 on Build GRCh38	Loss	SLF2 SFXN3 MRPL43 LZTS2 MIR608 KAZALD1 PDZD7 C10orf2 SEMA4G
nsv517698	Chr.10:100965896 - 101017113 on Build GRCh38	Loss	MRPL43 LZTS2 MIR608 PDZD7 C10orf2 SEMA4G
nsv467443	Chr.10:100929460 - 101007360 on Build GRCh38	Loss	SLF2 MRPL43 LZTS2 MIR608 C10orf2 SEMA4G

More Information

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

Panther Classification:

Molecular Function -

ribosomal protein, translational protein, membrane-bound signaling molecule, intercellular signal molecule

Gene Ontology Categories:

Process(es)

translation
mitochondrial translational elongation
mitochondrial translational termination
neural crest cell migration
positive regulation of cell migration
negative regulation of axon extension involved in axon guidance
negative chemotaxis
semaphorin-plexin signaling pathway

Function(s)

structural constituent of ribosome
protein binding
poly(A) RNA binding
semaphorin receptor binding
neuropilin binding
chemorepellent activity