Hs04009070_cn

• Gene Symbol: MEGF8
• Assay Reference Genome Location: Chr.19:42327579 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	MIR4323 RABAC1 ATP1A3 CD79A LOC101930071 MIR8077 CIC CNFN ZNF574 MEGF8 PRR19 TMEM145 RPS19 ERF ARHGEF1 LOC100505585 LOC390937 PAFAH1B3 GSK3A DEDD2 LIPE GRIK5 LOC100505622 ZNF526 MIR6797 POU2F2 LIPE-AS1
nsv526186	Chr.19:42172329 - 42699355 on Build GRCh38	Gain	PAFAH1B3 LOC101930071 GSK3A MIR8077 CIC DEDD2 CEACAM8 CNFN LIPE CEACAM1 MEGF8 PRR19 ZNF526 TMEM145 ERF POU2F2 LIPE-AS1 CXCL17
nsv1160627	Chr.19:42209979 - 42341899 on Build GRCh38	Deletion	MEGF8 PRR19 ZNF526 TMEM145 ERF PAFAH1B3 GSK3A CIC DEDD2
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	MIR4323 RABAC1 CEACAM3 ATP1A3 CD79A LOC101930071 MIR8077 CIC CNFN ZNF574 MEGF8 DMRTC2 PRR19 CEACAM5 TMEM145 RPS19 ERF ARHGEF1 LOC100505585 LOC390937 PAFAH1B3 GSK3A CEACAM4 DEDD2 LIPE GRIK5 LOC100505622 LYPD4 ZNF526 MIR6797 POU2F2 CEACAM6 LIPE-AS1 CEACAM7
nsv833834	Chr.19:42232292 - 42330875 on Build GRCh38	Loss	MEGF8 PRR19 TMEM145 ERF PAFAH1B3 GSK3A CIC
esv2422471	Chr.19:42228989 - 43165333 on Build GRCh38	Deletion	PSG10P PSG7 PAFAH1B3 LOC101930071 GSK3A MIR8077 PSG2 CIC CEACAM8 CNFN LIPE PSG11 CEACAM1 MEGF8 PSG3 PRR19 LOC100289650 PSG1 PSG8 TMEM145 ERF LIPE-AS1 CXCL17 PSG6

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