Hs04023884_cn

• Gene Symbol: MEGF8
• Assay Reference Genome Location: Chr.19:42330396 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 1954
• Gene Name: multiple EGF like domains 8
• Gene Aliases: C19orf49, CRPT2, EGFL4, SBP1
• Location: Chr.19:42325609-42378769 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MEGF8	NM_001271938.1			NP_001258867.1
	NM_001410.2			NP_001401.2
	AB011541.2			BAA32469.2
	BC153880.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv520239	Chr.19:41853387 - 42426852 on Build GRCh38	Loss	ZNF526 TMEM145 LIPE-AS1 POU2F2 GRIK5 LOC390937 LOC100505585 LIPE RABAC1 ZNF574 RPS19 MIR8077 ERF GSK3A LOC101930071 LOC100505622 PRR19 MIR4323 MEGF8 CD79A DEDD2 MIR6797 PAFAH1B3 CNFN ARHGEF1 ATP1A3 CIC
nsv526186	Chr.19:42172329 - 42699355 on Build GRCh38	Gain	LOC101930071 ZNF526 PRR19 TMEM145 CXCL17 CEACAM1 LIPE-AS1 POU2F2 MEGF8 LIPE DEDD2 PAFAH1B3 CNFN MIR8077 CEACAM8 ERF GSK3A CIC
nsv1160627	Chr.19:42209979 - 42341899 on Build GRCh38	Deletion	DEDD2 PAFAH1B3 ZNF526 PRR19 TMEM145 MEGF8 ERF GSK3A CIC
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	ZNF526 TMEM145 LIPE-AS1 POU2F2 GRIK5 CEACAM7 LYPD4 CEACAM5 LOC390937 LOC100505585 LIPE RABAC1 ZNF574 RPS19 MIR8077 ERF GSK3A LOC101930071 CEACAM3 LOC100505622 PRR19 MIR4323 MEGF8 CD79A DEDD2 MIR6797 PAFAH1B3 CEACAM4 CNFN ARHGEF1 ATP1A3 CIC DMRTC2 CEACAM6
nsv833834	Chr.19:42232292 - 42330875 on Build GRCh38	Loss	PAFAH1B3 PRR19 TMEM145 MEGF8 ERF GSK3A CIC
esv2422471	Chr.19:42228989 - 43165333 on Build GRCh38	Deletion	PSG7 PSG10P LOC101930071 LOC100289650 PRR19 PSG1 PSG11 TMEM145 CXCL17 CEACAM1 LIPE-AS1 MEGF8 PSG8 LIPE PAFAH1B3 PSG6 CNFN PSG3 MIR8077 CEACAM8 ERF GSK3A PSG2 CIC

More Information

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

Gene Ontology Categories:

Process(es)

embryonic heart tube morphogenesis
regulation of gene expression
embryonic limb morphogenesis
BMP signaling pathway
limb morphogenesis
cell migration involved in gastrulation
embryonic skeletal system morphogenesis
positive regulation of axon extension involved in axon guidance
epiboly involved in gastrulation with mouth forming second
embryonic heart tube left/right pattern formation
left/right pattern formation
coronary vasculature development
determination of heart left/right asymmetry
determination of digestive tract left/right asymmetry
craniofacial suture morphogenesis
fasciculation of sensory neuron axon

Function(s)

calcium ion binding
protein binding