Hs00438128_cn

• Gene Symbol: ADAMTS18
• Assay Reference Genome Location: Chr.16:77282552 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 Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADAMTS18	NM_001326358.1	23	5493	NP_001313287.1
	NM_199355.3	23	5489	NP_955387.1
	XM_011522923.1	21	4900	XP_011521225.1
	XM_011522924.1	20	4683	XP_011521226.1
	XM_017022988.1	20	4736	XP_016878477.1
	XM_017022989.1	20	4533	XP_016878478.1
	AI792764.1
	BM684970.1	1	442

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 MON1B NUDT7 ADAMTS18 VAT1L
nsv1055234	Chr.16:76969529 - 77433389 on Build GRCh38	Gain	SYCE1L MON1B ADAMTS18
dgv3027n100	Chr.16:76614676 - 77688151 on Build GRCh38	Gain	SYCE1L MON1B ADAMTS18 MIR4719 LOC101928203
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, 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