Hs01938544_cn

• Gene Symbol: EFEMP2
• Assay Reference Genome Location: Chr.11:65869901 on build GRCh38
• Cytoband: 11q13.1

Target Gene Details

• Entrez Gene ID: 30008
• Gene Name: EGF containing fibulin like extracellular matrix protein 2
• Gene Aliases: ARCL1B, FBLN4, MBP1, UPH1
• Location: Chr.11:65866441-65872934 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFEMP2	NM_016938.4	7	942	NP_058634.4
	NR_037718.1	7	942
	AB030655.1	7	779	BAA92880.1
	AB209121.1	4	3018	BAD92358.1
	AF093119.1	6	671	AAC62108.1
	AF109121.1	7	770	AAF65188.1
	AF124486.1	6	683	AAG45245.1
	AJ132819.2	6	683	CAA10791.2
	AK000980.1	7	779
	AK075453.1	7	748
	AK095794.1
	AK098186.1	3	1682
	AK292079.1	7	787
	AK315181.1	7	748
	AY358899.1	7	744	AAQ89258.1
	BC010456.1	7	798	AAH10456.1
	BQ478413.1	4	362
	CR541934.1	6	683	CAG46732.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759834	Chr.11:65792422 - 65954892 on Build GRCh38	Gain	FOSL1 CFL1 MUS81 DRAP1 EFEMP2 OVOL1 CCDC85B FIBP TSGA10IP SNX32 CTSW C11orf68
nsv832191	Chr.11:65864858 - 66038649 on Build GRCh38	Loss	FOSL1 MUS81 EFEMP2 CCDC85B TSGA10IP CST6 CATSPER1 EIF1AD C11orf68 SART1 DRAP1 FIBP BANF1 CTSW
esv999644	Chr.11:65868696 - 65878563 on Build GRCh38	Deletion	EFEMP2
nsv555215	Chr.11:65814108 - 65909045 on Build GRCh38	Loss	FOSL1 CFL1 MUS81 EFEMP2 CCDC85B FIBP SNX32 CTSW
nsv1159905	Chr.11:65836608 - 65922038 on Build GRCh38	Duplication	FOSL1 CFL1 MUS81 DRAP1 EFEMP2 CCDC85B FIBP SNX32 CTSW C11orf68

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Function(s)

extracellular matrix structural constituent
calcium ion binding
protein binding