Hs04672571_cn

• Gene Symbol: DYSF
• Assay Reference Genome Location: Chr.2:71457774 on build GRCh38
• Cytoband: 2p13.2

Target Gene Details

• Entrez Gene ID: 8291
• Gene Name: dysferlin
• Gene Aliases: FER1L1, LGMD2B, MMD1
• Location: Chr.2:71453155-71686763 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DYSF	NM_001130976.1			NP_001124448.1
	NM_001130977.1			NP_001124449.1
	NM_001130978.1			NP_001124450.1
	NM_001130979.1			NP_001124451.1
	NM_001130980.1			NP_001124452.1
	NM_001130981.1			NP_001124453.1
	NM_003494.3			NP_003485.1
	XM_005264585.4			XP_005264642.1
	AF075575.1			AAC63519.1
	EU515155.1
	EU515156.1
	EU515157.1
	EU515158.1
	EU515159.1
	EU515160.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3591230	Chr.2:71457775 - 71458754 on Build GRCh38	Loss	DYSF
nsv521345	Chr.2:71345325 - 71458399 on Build GRCh38	Loss	ZNF638 DYSF

More Information

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

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

plasma membrane repair
vesicle fusion
muscle contraction

Function(s)

calcium ion binding
protein binding
phospholipid binding
calcium-dependent phospholipid binding