Hs04956194_cn

• Gene Symbol: HECW1
• Assay Reference Genome Location: Chr.7:43517372 on build GRCh38
• Cytoband: 7p13

Target Gene Details

• Entrez Gene ID: 23072
• Gene Name: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
• Gene Aliases: NEDL1
• Location: Chr.7:43112580-43566001 on Build GRCh38
• Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HECW1	NM_001287059.1			NP_001273988.1
	NM_015052.4			NP_055867.3
	XM_005249665.3			XP_005249722.1
	XM_006715670.3			XP_006715733.1
	XM_006715671.3			XP_006715734.1
	XM_006715673.3			XP_006715736.1
	XM_011515220.2			XP_011513522.1
	XM_011515222.2			XP_011513524.1
	XM_011515223.2			XP_011513525.1
	XM_011515224.2			XP_011513526.1
	XM_011515225.2			XP_011513527.2
	XM_011515226.2			XP_011513528.1
	XM_017011882.1			XP_016867371.1
	XM_017011883.1			XP_016867372.1
	XM_017011884.1			XP_016867373.1
	XM_017011885.1			XP_016867374.1
	XM_017011886.1			XP_016867375.1
	XM_017011887.1			XP_016867376.1
	XM_017011888.1			XP_016867377.1
	XM_017011889.1			XP_016867378.1
	AB002320.2
	AB048365.1			BAB13352.1
	AK294918.1
	BC151227.1

Target Gene Details

• Entrez Gene ID: 100506895
• Gene Name: uncharacterized LOC100506895
• Gene Aliases: -
• Location: Chr.7:43508728-43522542 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100506895	NR_038276.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3612993	Chr.7:43438543 - 43609526 on Build GRCh38	Gain	LOC100506895 STK17A COA1 HECW1

More Information

Additional Information:

For this assay, SNP(s) [rs144184288] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

protein ubiquitination involved in ubiquitin-dependent protein catabolic process
negative regulation of canonical Wnt signaling pathway

Function(s)

ubiquitin-protein transferase activity
ligase activity
ubiquitin protein ligase activity