Hs02719547_cn

• Gene Symbol: MFSD7
• Assay Reference Genome Location: Chr.4:678665 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 84179
• Gene Name: major facilitator superfamily domain containing 7
• Gene Aliases: LP2561
• Location: Chr.4:676205-689468 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MFSD7	XM_005272299.4			XP_005272356.1

Target Gene Details

• Entrez Gene ID: 4636
• Gene Name: myosin light chain 5
• Gene Aliases: -
• Location: Chr.4:674199-682033 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYL5	NM_002477.1			NP_002468.1
	XM_006713886.2			XP_006713949.1
	XM_017008245.1			XP_016863734.1
	XM_017008246.1			XP_016863735.1
	XM_017008247.1			XP_016863736.1
	XM_017008248.1			XP_016863737.1
	AK123974.1
	AK125529.1
	BC040050.1			AAH40050.1
	L03785.1			AAA59890.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv593206	Chr.4:632173 - 741362 on Build GRCh38	Loss	ATP5I PDE6B MYL5 LOC101928521 PCGF3 MFSD7
esv2759217	Chr.4:609419 - 937566 on Build GRCh38	Loss	ATP5I PDE6B LOC107986211 MYL5 TMEM175 CPLX1 GAK LOC101928521 PCGF3 LOC100129917 MFSD7
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	PDE6B CTBP1-AS2 LOC100130872 SLC26A1 TMEM175 RNF212 CPLX1 PCGF3 DGKQ MYL5 CTBP1-AS SPON2 LOC101928521 LOC105374344 MAEA ATP5I LOC107986211 IDUA GAK LOC100129917 LOC101928548 CRIPAK CTBP1 UVSSA TMED11P NKX1-1 MFSD7 FGFRL1
nsv829834	Chr.4:671688 - 781736 on Build GRCh38	Loss	ATP5I LOC107986211 MYL5 PCGF3 LOC100129917 MFSD7
nsv950325	Chr.4:620112 - 796912 on Build GRCh38	Deletion	ATP5I PDE6B LOC107986211 MYL5 CPLX1 LOC101928521 PCGF3 LOC100129917 MFSD7
nsv593208	Chr.4:674211 - 688444 on Build GRCh38	Loss	ATP5I MYL5 MFSD7
nsv508986	Chr.4:527899 - 756994 on Build GRCh38	Insertion	ATP5I PIGG PDE6B LOC107986211 MYL5 LOC101928521 PCGF3 MFSD7
nsv10413	Chr.4:673415 - 690512 on Build GRCh38	Gain	ATP5I MYL5 MFSD7

More Information

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

Panther Classification:

Molecular Function -

secondary carrier transporter, actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

transmembrane transport
muscle contraction
regulation of muscle contraction

Function(s)

calcium ion binding
structural constituent of muscle