Hs05398593_cn

• Gene Symbol: ADAMTS18
• Assay Reference Genome Location: Chr.16:77288806 on build GRCh38
• Cytoband: 16q23.1

Target Gene Details

• Entrez Gene ID: 170692
• Gene Name: ADAM metallopeptidase with thrombospondin type 1 motif 18
• Gene Aliases: ADAMTS21, KNO2, MMCAT
• Location: Chr.16:77282128-77435114 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADAMTS18	NM_001326358.1			NP_001313287.1
	NM_199355.3			NP_955387.1
	XM_011522923.1			XP_011521225.1
	XM_011522924.1			XP_011521226.1
	XM_017022988.1			XP_016878477.1
	XM_017022989.1			XP_016878478.1
	AK122677.1			BAC85503.1
	AK131403.1			BAD18550.1
	AY172951.1			AAO45695.1
	BC063283.1			AAH63283.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1056676	Chr.16:77105785 - 77820951 on Build GRCh38	Loss	SYCE1L VAT1L MON1B ADAMTS18 NUDT7
nsv1055234	Chr.16:76969529 - 77433389 on Build GRCh38	Gain	SYCE1L MON1B ADAMTS18
dgv3027n100	Chr.16:76614676 - 77688151 on Build GRCh38	Gain	SYCE1L MON1B MIR4719 LOC101928203 ADAMTS18
nsv1065714	Chr.16:77251762 - 77351621 on Build GRCh38	Loss	ADAMTS18
esv2761916	Chr.16:77243108 - 77521936 on Build GRCh38	Gain	ADAMTS18

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

eye development
proteolysis
negative regulation of platelet aggregation

Function(s)

metalloendopeptidase activity
zinc ion binding