Hs04011916_cn

• Gene Symbol: MEGF8
• Assay Reference Genome Location: Chr.19:42329410 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	MIR8077 ATP1A3 ERF LOC100505622 PAFAH1B3 RABAC1 ZNF526 LIPE-AS1 GSK3A RPS19 TMEM145 LOC390937 ZNF574 LIPE GRIK5 DEDD2 PRR19 CD79A CIC LOC100505585 MIR4323 CNFN POU2F2 ARHGEF1 LOC101930071 MEGF8 MIR6797
nsv526186	Chr.19:42172329 - 42699355 on Build GRCh38	Gain	MIR8077 PRR19 CIC ERF PAFAH1B3 ZNF526 LIPE-AS1 GSK3A CXCL17 CNFN POU2F2 LOC101930071 TMEM145 MEGF8 LIPE CEACAM1 CEACAM8 DEDD2
nsv1160627	Chr.19:42209979 - 42341899 on Build GRCh38	Deletion	PRR19 GSK3A CIC ERF TMEM145 PAFAH1B3 MEGF8 ZNF526 DEDD2
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	MIR8077 ATP1A3 LYPD4 ERF CEACAM5 LOC100505622 PAFAH1B3 RABAC1 ZNF526 CEACAM4 LIPE-AS1 CEACAM6 GSK3A DMRTC2 CEACAM7 RPS19 TMEM145 LOC390937 ZNF574 LIPE GRIK5 DEDD2 PRR19 CD79A CIC LOC100505585 MIR4323 CEACAM3 CNFN POU2F2 ARHGEF1 LOC101930071 MEGF8 MIR6797
nsv833834	Chr.19:42232292 - 42330875 on Build GRCh38	Loss	PRR19 GSK3A CIC ERF TMEM145 PAFAH1B3 MEGF8
esv2422471	Chr.19:42228989 - 43165333 on Build GRCh38	Deletion	MIR8077 PRR19 PSG2 CIC PSG1 PSG10P ERF PAFAH1B3 LIPE-AS1 PSG11 PSG6 GSK3A CXCL17 LOC100289650 CNFN PSG7 LOC101930071 TMEM145 PSG8 MEGF8 LIPE CEACAM1 PSG3 CEACAM8

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