Hs04012675_cn

• Gene Symbol: MEGF8
• Assay Reference Genome Location: Chr.19:42328182 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	CIC RABAC1 MIR4323 ATP1A3 LOC390937 ZNF526 LIPE-AS1 GRIK5 DEDD2 POU2F2 MIR8077 LOC101930071 LIPE PRR19 LOC100505585 ZNF574 ERF GSK3A CD79A MEGF8 LOC100505622 ARHGEF1 PAFAH1B3 RPS19 CNFN TMEM145 MIR6797
nsv526186	Chr.19:42172329 - 42699355 on Build GRCh38	Gain	CEACAM8 POU2F2 CIC MIR8077 LOC101930071 LIPE PRR19 ERF GSK3A CEACAM1 ZNF526 MEGF8 LIPE-AS1 PAFAH1B3 CXCL17 CNFN DEDD2 TMEM145
nsv1160627	Chr.19:42209979 - 42341899 on Build GRCh38	Deletion	CIC ZNF526 PRR19 MEGF8 ERF PAFAH1B3 GSK3A DEDD2 TMEM145
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	CIC RABAC1 MIR4323 ATP1A3 CEACAM4 LOC390937 ZNF526 CEACAM5 LIPE-AS1 CEACAM3 GRIK5 CEACAM7 DEDD2 POU2F2 MIR8077 LOC101930071 LIPE PRR19 LOC100505585 ZNF574 ERF GSK3A DMRTC2 CEACAM6 CD79A MEGF8 LOC100505622 ARHGEF1 PAFAH1B3 RPS19 CNFN TMEM145 LYPD4 MIR6797
nsv833834	Chr.19:42232292 - 42330875 on Build GRCh38	Loss	CIC PRR19 MEGF8 ERF PAFAH1B3 GSK3A TMEM145
esv2422471	Chr.19:42228989 - 43165333 on Build GRCh38	Deletion	CEACAM8 CIC MIR8077 LOC101930071 LIPE PRR19 PSG6 ERF PSG8 GSK3A PSG10P CEACAM1 PSG1 PSG3 MEGF8 PSG2 PSG7 LIPE-AS1 PAFAH1B3 LOC100289650 CXCL17 CNFN PSG11 TMEM145

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