Hs01614806_cn

• Gene Symbol: HERC2
• Assay Reference Genome Location: Chr.15:28177429 on build GRCh38
• Cytoband: 15q13.1

Target Gene Details

• Entrez Gene ID: 8924
• Gene Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
• Gene Aliases: D15F37S1, MRT38, SHEP1, jdf2, p528
• Location: Chr.15:28111037-28322173 on Build GRCh38
• Assay Gene Location: Overlaps Intron 65 - Exon 65

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HERC2	NM_004667.5			NP_004658.3
	XM_005268276.4			XP_005268333.1
	XM_006720726.3			XP_006720789.1
	XM_006720727.3			XP_006720790.1
	XM_011522131.2			XP_011520433.1
	XM_011522133.2			XP_011520435.1
	XM_017022695.1			XP_016878184.1
	XM_017022696.1			XP_016878185.1
	XM_017022697.1			XP_016878186.1
	XM_017022698.1			XP_016878187.1
	AF071172.3			AAD08657.1
	BC148318.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3635988	Chr.15:28098445 - 28194723 on Build GRCh38	Gain	OCA2 HERC2
nsv428299	Chr.15:28042424 - 28817373 on Build GRCh38	Loss	OCA2 MIR4509-2 GOLGA8G HERC2 HERC2P9 GOLGA8F LOC100289656 LOC645202 GOLGA8M PDCD6IPP2 LOC101929047 HERC2P11 WHAMMP2 LOC100132202 MIR4509-3
esv3635991	Chr.15:28132541 - 28198997 on Build GRCh38	Gain	HERC2
esv2760021	Chr.15:28167321 - 28719643 on Build GRCh38	Gain+Loss	MIR4509-2 LOC101929047 GOLGA8G HERC2 HERC2P11 HERC2P9 LOC100132202 MIR4509-3 GOLGA8F LOC645202 GOLGA8M
esv2674813	Chr.15:28174207 - 28679277 on Build GRCh38	Deletion	MIR4509-2 LOC101929047 GOLGA8G HERC2 HERC2P11 HERC2P9 LOC100132202 MIR4509-3 GOLGA8F LOC645202
nsv1039684	Chr.15:28080438 - 28315658 on Build GRCh38	Gain	OCA2 HERC2
nsv1052131	Chr.15:27932591 - 28460005 on Build GRCh38	Gain	OCA2 MIR4509-2 HERC2 GOLGA8F LOC645202
nsv1038472	Chr.15:27647423 - 28256473 on Build GRCh38	Gain	OCA2 HERC2
nsv568662	Chr.15:27726493 - 29056123 on Build GRCh38	Gain	OCA2 MIR4509-2 GOLGA8G HERC2 APBA2 HERC2P9 GOLGA8F LOC100289656 LOC645202 GOLGA8M PDCD6IPP2 LOC101929047 GOLGA6L7P HERC2P11 WHAMMP2 LOC100132202 MIR4509-3 LOC107984752
dgv2490n100	Chr.15:28110984 - 28203495 on Build GRCh38	Gain	HERC2
dgv2491n100	Chr.15:28176880 - 28713634 on Build GRCh38	Gain	MIR4509-2 LOC101929047 GOLGA8G HERC2 HERC2P11 HERC2P9 LOC100132202 MIR4509-3 GOLGA8F LOC645202 GOLGA8M

More Information

Additional Information:

For this assay, SNP(s) [rs140162856] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

double-strand break repair via nonhomologous end joining
intracellular protein transport
cellular response to DNA damage stimulus
spermatogenesis
protein ubiquitination
protein sumoylation
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
positive regulation of GTPase activity

Function(s)

ubiquitin-protein transferase activity
guanyl-nucleotide exchange factor activity
protein binding
zinc ion binding
ligase activity
ubiquitin protein ligase binding
SUMO binding