Hs01142192_cn

• Gene Symbol: DYSF
• Assay Reference Genome Location: Chr.2:71481928 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: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DYSF	NM_001130455.1			NP_001123927.1
	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_001130982.1			NP_001124454.1
	NM_001130983.1			NP_001124455.1
	NM_001130984.1			NP_001124456.1
	NM_001130985.1			NP_001124457.1
	NM_001130986.1			NP_001124458.1
	NM_001130987.1			NP_001124459.1
	NM_003494.3			NP_003485.1
	XM_005264584.4			XP_005264641.1
	XM_005264585.4			XP_005264642.1
	AF075575.1			AAC63519.1
	DQ267935.1
	EU515155.1
	EU515156.1
	EU515157.1
	EU515158.1
	EU515159.1
	EU515160.1
	EU515161.1
	EU515162.1
	EU515163.1
	EU515164.1
	EU515165.1
	EU515166.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv458141	Chr.2:71480078 - 71489364 on Build GRCh38	Loss	DYSF

More Information

• Set Membership: Intragenic, 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