Hs04024504_cn

• Gene Symbol: MEGF8
• Assay Reference Genome Location: Chr.19:42329017 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	LIPE-AS1 ZNF526 ZNF574 LOC100505585 LOC101930071 POU2F2 ERF RABAC1 MIR4323 LOC390937 RPS19 CNFN DEDD2 CD79A LOC100505622 PRR19 ARHGEF1 LIPE GRIK5 TMEM145 GSK3A CIC MEGF8 MIR6797 PAFAH1B3 ATP1A3 MIR8077
nsv526186	Chr.19:42172329 - 42699355 on Build GRCh38	Gain	LIPE-AS1 ZNF526 PRR19 LOC101930071 POU2F2 ERF LIPE TMEM145 GSK3A CNFN CXCL17 CIC MEGF8 DEDD2 CEACAM1 PAFAH1B3 MIR8077 CEACAM8
nsv1160627	Chr.19:42209979 - 42341899 on Build GRCh38	Deletion	ZNF526 CIC MEGF8 PRR19 DEDD2 PAFAH1B3 ERF TMEM145 GSK3A
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	LIPE-AS1 ZNF526 ZNF574 LOC100505585 LOC101930071 POU2F2 ERF RABAC1 CEACAM4 MIR4323 LOC390937 RPS19 CNFN DEDD2 CD79A CEACAM3 DMRTC2 LOC100505622 PRR19 ARHGEF1 CEACAM5 CEACAM6 LIPE GRIK5 TMEM145 GSK3A CEACAM7 CIC MEGF8 MIR6797 PAFAH1B3 ATP1A3 MIR8077 LYPD4
nsv833834	Chr.19:42232292 - 42330875 on Build GRCh38	Loss	CIC MEGF8 PRR19 PAFAH1B3 ERF TMEM145 GSK3A
esv2422471	Chr.19:42228989 - 43165333 on Build GRCh38	Deletion	LIPE-AS1 PRR19 PSG11 PSG3 LOC101930071 LOC100289650 ERF LIPE TMEM145 PSG2 GSK3A CNFN CXCL17 CIC MEGF8 PSG10P PSG8 PSG1 CEACAM1 PAFAH1B3 MIR8077 PSG7 CEACAM8 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