Hs00895586_cn

• Gene Symbol: MEGF8
• Assay Reference Genome Location: Chr.19:42336928 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: Overlaps Exon 7 - Intron 7

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

More Information

• Set Membership: Intragenic, 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