Hs04022755_cn

• Gene Symbol: MEGF8
• Assay Reference Genome Location: Chr.19:42347950 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 12

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
	AY280362.1			AAP35084.1
	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	MIR4323 GRIK5 POU2F2 ATP1A3 LOC390937 MIR6797 MEGF8 RPS19 PAFAH1B3 ZNF574 ERF PRR19 RABAC1 LOC100505585 TMEM145 LIPE DEDD2 ARHGEF1 LIPE-AS1 LOC101930071 CIC CD79A LOC100505622 MIR8077 CNFN GSK3A ZNF526
nsv526186	Chr.19:42172329 - 42699355 on Build GRCh38	Gain	CEACAM1 TMEM145 POU2F2 LIPE DEDD2 LIPE-AS1 LOC101930071 CIC MEGF8 PAFAH1B3 CEACAM8 MIR8077 CNFN ERF PRR19 CXCL17 GSK3A ZNF526
esv3574530	Chr.19:42343576 - 42359694 on Build GRCh38	Gain	MIR8077 MEGF8
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	LYPD4 MIR4323 GRIK5 POU2F2 ATP1A3 CEACAM5 LOC390937 MIR6797 MEGF8 RPS19 DMRTC2 CEACAM4 PAFAH1B3 ZNF574 CEACAM3 ERF PRR19 CEACAM7 RABAC1 LOC100505585 TMEM145 LIPE DEDD2 ARHGEF1 LIPE-AS1 LOC101930071 CIC CEACAM6 CD79A LOC100505622 MIR8077 CNFN GSK3A ZNF526
esv2422471	Chr.19:42228989 - 43165333 on Build GRCh38	Deletion	CEACAM1 PSG6 TMEM145 LIPE LIPE-AS1 LOC101930071 CIC MEGF8 PSG3 PAFAH1B3 LOC100289650 CEACAM8 MIR8077 PSG1 PSG2 CNFN ERF PRR19 PSG11 CXCL17 PSG8 GSK3A PSG7 PSG10P

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