Hs04328429_cn

• Gene Symbol: AGBL3
• Assay Reference Genome Location: Chr.7:135094954 on build GRCh38
• Cytoband: 7q33

Target Gene Details

• Entrez Gene ID: 340351
• Gene Name: ATP/GTP binding protein like 3
• Gene Aliases: CCP3
• Location: Chr.7:134985169-135135782 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AGBL3	NM_178563.3			NP_848658.3
	XM_017012136.1			XP_016867625.1
	XM_017012137.1			XP_016867626.1
	XM_017012138.1			XP_016867627.1
	XM_017012139.1			XP_016867628.1
	XM_017012140.1			XP_016867629.1
	XM_017012141.1			XP_016867630.1
	XM_017012142.1			XP_016867631.1
	XM_017012143.1			XP_016867632.1
	AK302827.1

Target Gene Details

• Entrez Gene ID: 78996
• Gene Name: chromosome 7 open reading frame 49
• Gene Aliases: MRI
• Location: Chr.7:135092303-135170826 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C7orf49	NM_001305630.1			NP_001292559.1
	XM_017012595.1			XP_016868084.1
	BC010361.1
	BC024018.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv527174	Chr.7:134952791 - 135157183 on Build GRCh38	Loss	AGBL3 CALD1 C7orf49 TMEM140
nsv523222	Chr.7:135080396 - 135111234 on Build GRCh38	Gain	AGBL3 C7orf49
nsv608458	Chr.7:135016632 - 135149118 on Build GRCh38	Loss	AGBL3 C7orf49 TMEM140

More Information

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

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
protein side chain deglutamylation

Function(s)

metallocarboxypeptidase activity
zinc ion binding
protein binding