Hs00800415_cn

• Gene Symbol: HERC1
• Assay Reference Genome Location: Chr.15:63630584 on build GRCh38
• Cytoband: 15q22.31

Target Gene Details

• Entrez Gene ID: 8925
• Gene Name: HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
• Gene Aliases: p532, p619
• Location: Chr.15:63608618-63833964 on Build GRCh38
• Assay Gene Location: Within Exon 71

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HERC1	NM_003922.3	69	12996	NP_003913.3
	XM_017022699.1	70	13153	XP_016878188.1
	XM_017022700.1	70	13117	XP_016878189.1
	XM_017022701.1	70	13102	XP_016878190.1
	XM_017022702.1	69	13102	XP_016878191.1
	XM_017022703.1	70	13099	XP_016878192.1
	XM_017022704.1	70	13081	XP_016878193.1
	XM_017022705.1	69	13075	XP_016878194.1
	AK226162.1	56	10059
	BC040929.1	3	220	AAH40929.1
	U50078.1	69	12944	AAD12586.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833034	Chr.15:63500671 - 63657512 on Build GRCh38	Loss	FBXL22 USP3-AS1 HERC1 USP3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

transport
negative regulation of autophagy
protein ubiquitination
cerebellar Purkinje cell differentiation
neuron projection development
positive regulation of GTPase activity
neuromuscular process controlling balance

Function(s)

ubiquitin-protein transferase activity
ARF guanyl-nucleotide exchange factor activity
ligase activity