Hs01214531_cn

• Gene Symbol: A2ML1
• Assay Reference Genome Location: Chr.12:8847662 on build GRCh38
• Cytoband: 12p13.31

Target Gene Details

• Entrez Gene ID: 144568
• Gene Name: alpha-2-macroglobulin like 1
• Gene Aliases: CPAMD9
• Location: Chr.12:8822472-8887202 on Build GRCh38
• Assay Gene Location: Overlaps Exon 16 - Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
A2ML1	NM_001282424.2			NP_001269353.1
	NM_144670.5			NP_653271.2
	XM_011520566.2			XP_011518868.1
	XM_011520567.2			XP_011518869.1
	XM_017018868.1			XP_016874357.1
	XM_017018869.1			XP_016874358.1
	XM_017018870.1			XP_016874359.1
	AK122624.1			BAC85494.1
	AK123592.1			BAC85654.1
	AK123601.1
	AK290355.1
	AK302555.1
	AL832139.1
	AL833479.1
	BX648231.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1051530	Chr.12:8442286 - 9951690 on Build GRCh38	Gain	LOC105369649 LOC400002 M6PR LINC00612 CLEC4E CLECL1 LOC374443 LOC101928030 LOC105369728 A2M-AS1 LOC728715 CLEC12A CLEC6A MFAP5 CD69 KLRF2 LINC00987 CLEC2B LOC642846 KLRG1 KLRF1 LOC100506159 LOC101930452 A2MP1 A2M PHC1 CLEC2D AICDA LOC105376678 OVOS CLEC2A KLRB1 MIR1244-3 A2ML1 PZP DDX12P CLEC4D RIMKLB
esv3628482	Chr.12:8845607 - 8850343 on Build GRCh38	Loss	A2ML1

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity
regulation of endopeptidase activity

Function(s)

serine-type endopeptidase inhibitor activity
peptidase inhibitor activity