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

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