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

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