Hs00350824_cn

• Gene Symbol: GSG2
• Assay Reference Genome Location: Chr.17:3726444 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GSG2	NM_031965.2	1	2542	NP_114171.2
	AB039834.3	1	2539
	AF289865.1	1	2538	AAK30300.1
	AK056691.1	2	1428	BAB71255.1
	AK292715.1	1	2528
	AK310546.1
	BC047457.1	1	2523	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	SHPK P2RX5 TRPV1 CTNS TAX1BP3 SPATA22 GSG2 EMC6 P2RX5-TAX1BP3 TRPV3 ITGAE ASPA
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	MIR1253 OR1D4 NCBP3 EMC6 OR3A3 MIR6776 P2RX5 P2RX1 OR1D2 TAX1BP3 OR1E2 OR1D5 TRPV3 ITGAE RAP1GAP2 LOC101927911 CCDC92B OR3A4P SHPK OR1E1 TRPV1 OR3A2 OR3A1 LOC105371591 GSG2 CAMKK1 OR1A2 OR1G1 ASPA PAFAH1B1 CLUH CTNS ATP2A3 LOC105371592 SPATA22 P2RX5-TAX1BP3 OR1A1
nsv469791	Chr.17:3700760 - 3885899 on Build GRCh38	Loss	NCBP3 GSG2 CAMKK1 ITGAE
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	SHPK OR1E1 NCBP3 TRPV1 OR3A2 GSG2 EMC6 OR3A3 CAMKK1 ASPA P2RX5 CTNS TAX1BP3 SPATA22 OR1E2 P2RX5-TAX1BP3 TRPV3 ITGAE
nsv833342	Chr.17:3626188 - 3806082 on Build GRCh38	Loss	SHPK P2RX5 CTNS TAX1BP3 GSG2 EMC6 P2RX5-TAX1BP3 ITGAE

More Information

• Set Membership: Intragenic, Exonic, 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