Hs02152934_cn

• Gene Symbol: GSG2
• Assay Reference Genome Location: Chr.17:3723924 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 83903
• Gene Name: germ cell associated 2, haspin
• Gene Aliases: HASPIN
• Location: Chr.17:3723903-3726699 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GSG2	NM_031965.2			NP_114171.2
	AB039834.3
	AF289865.1			AAK30300.1
	AK056691.1			BAB71255.1
	AK292715.1
	AK310546.1
	AK315247.1
	BC016626.1
	BC047457.1			AAH47457.1

Target Gene Details

• Entrez Gene ID: 3682
• Gene Name: integrin subunit alpha E
• Gene Aliases: CD103, HUMINAE
• Location: Chr.17:3714625-3803766 on Build GRCh38
• Assay Gene Location: Within Intron 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITGAE	NM_002208.4			NP_002199.3
	XM_011523823.2			XP_011522125.1
	XM_011523825.2			XP_011522127.1
	XM_011523827.2			XP_011522129.1
	XM_011523828.2			XP_011522130.1
	XM_017024586.1			XP_016880075.1
	BC113436.1
	BC117207.1
	L25851.2			AAB59359.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	TRPV1 TRPV3 P2RX5 GSG2 ITGAE SPATA22 EMC6 CTNS P2RX5-TAX1BP3 ASPA TAX1BP3 SHPK
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	RAP1GAP2 OR1D2 OR3A3 P2RX1 OR3A1 MIR6776 LOC101927911 OR1E2 OR1A1 ATP2A3 CCDC92B NCBP3 TRPV1 TRPV3 GSG2 OR3A4P MIR1253 SHPK OR1A2 LOC105371592 P2RX5 ITGAE SPATA22 LOC105371591 P2RX5-TAX1BP3 CAMKK1 OR1G1 ASPA TAX1BP3 OR1D5 OR1E1 OR3A2 PAFAH1B1 EMC6 CTNS OR1D4 CLUH
nsv469791	Chr.17:3700760 - 3885899 on Build GRCh38	Loss	GSG2 ITGAE CAMKK1 NCBP3
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	OR3A3 P2RX5 ITGAE SPATA22 P2RX5-TAX1BP3 CAMKK1 OR1E2 ASPA NCBP3 TAX1BP3 TRPV1 TRPV3 GSG2 OR1E1 OR3A2 EMC6 CTNS SHPK
nsv833342	Chr.17:3626188 - 3806082 on Build GRCh38	Loss	P2RX5 GSG2 ITGAE EMC6 CTNS P2RX5-TAX1BP3 TAX1BP3 SHPK

More Information

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

Panther Classification:

Molecular Function -

integrin

Gene Ontology Categories:

Process(es)

protein phosphorylation
mitotic sister chromatid cohesion
intracellular signal transduction
protein localization to chromosome, centromeric region
regulation of spindle checkpoint
histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore
cell adhesion
integrin-mediated signaling pathway
extracellular matrix organization

Function(s)

protein kinase activity
protein binding
ATP binding
histone kinase activity (H3-T3 specific)
metal ion binding