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

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