Hs02045994_cn

• Gene Symbol: EFEMP2
• Assay Reference Genome Location: Chr.11:65868555 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 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFEMP2	NM_016938.4	8	1061	NP_058634.4
	NR_037718.1	8	1061
	AB030655.1	8	898	BAA92880.1
	AB209121.1	4	4364	BAD92358.1
	AF093119.1	7	790	AAC62108.1
	AF109121.1	8	889	AAF65188.1
	AF124486.1	7	802	AAG45245.1
	AJ132819.2	7	802	CAA10791.2
	AK000980.1	8	898
	AK075453.1	8	867
	AK095794.1	1	1368
	AK098186.1	4	1801
	AK292079.1	8	906
	AK315181.1	8	867
	AY358899.1	8	863	AAQ89258.1
	BC010456.1	8	917	AAH10456.1
	BQ478413.1	5	481
	CR541934.1	7	802	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	SNX32 CFL1 MUS81 EFEMP2 CCDC85B DRAP1 FIBP OVOL1 FOSL1 C11orf68 TSGA10IP CTSW
nsv832191	Chr.11:65864858 - 66038649 on Build GRCh38	Loss	SART1 CATSPER1 BANF1 MUS81 TSGA10IP CTSW CST6 EIF1AD EFEMP2 CCDC85B DRAP1 FIBP FOSL1 C11orf68
nsv555215	Chr.11:65814108 - 65909045 on Build GRCh38	Loss	SNX32 CFL1 MUS81 EFEMP2 CCDC85B FIBP FOSL1 CTSW
nsv1159905	Chr.11:65836608 - 65922038 on Build GRCh38	Duplication	SNX32 CFL1 MUS81 EFEMP2 CCDC85B DRAP1 FIBP FOSL1 C11orf68 CTSW

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