Hs04944420_cn

• Gene Symbol: GBAS
• Assay Reference Genome Location: Chr.7:56000065 on build GRCh38
• Cytoband: 7p11.2

Target Gene Details

• Entrez Gene ID: 2631
• Gene Name: glioblastoma amplified sequence
• Gene Aliases: NIPSNAP2
• Location: Chr.7:55964577-56000182 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GBAS	NM_001202469.1	8	1770	NP_001189398.1
	NM_001483.2	10	1887	NP_001474.1
	AF029786.1	10	1862	AAC29002.1
	AJ001259.1	10	1854	CAA04633.1
	AK097049.1
	AK125036.1	7	4143
	BC000732.2	10	1860	AAH00732.1
	BC001837.2	10	1860	AAH01837.1
	BC030821.1	10	1869	AAH30821.1
	BU753659.1	1	133

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3613258	Chr.7:55963379 - 56119128 on Build GRCh38	Gain	PSPH PHKG1 GBAS CHCHD2 SUMF2 CCT6A NUPR2 SNORA15
esv2761334	Chr.7:55755888 - 56357046 on Build GRCh38	Gain	PSPH PHKG1 GBAS CHCHD2 SEPT14 SUMF2 CCT6A NUPR2 PSPHP1 MRPS17 SNORA15 ZNF713
dgv1201e199	Chr.7:55674375 - 56426809 on Build GRCh38	Deletion	PSPH SEPT14 NUPR2 MRPS17 FKBP9P1 LOC101060341 LOC650226 PHKG1 LOC107986800 GBAS CHCHD2 SUMF2 CCT6A PSPHP1 SNORA15 ZNF713
nsv1019400	Chr.7:55642134 - 56026847 on Build GRCh38	Gain	FKBP9P1 LOC101060341 PSPH GBAS SEPT14 PSPHP1 MRPS17 ZNF713
dgv6362n100	Chr.7:55894466 - 56026847 on Build GRCh38	Gain	PSPH GBAS MRPS17 ZNF713
nsv1017793	Chr.7:55983574 - 56030337 on Build GRCh38	Gain	PSPH GBAS
esv28230	Chr.7:55552107 - 56317719 on Build GRCh38	Gain+Loss	PSPH SEPT14 NUPR2 MRPS17 VOPP1 FKBP9P1 LOC101060341 PHKG1 GBAS CHCHD2 SUMF2 CCT6A PSPHP1 SNORA15 ZNF713
esv2734448	Chr.7:55785310 - 57103280 on Build GRCh38	Deletion	PSPH LOC101928401 SEPT14 NUPR2 DKFZp434L192 MRPS17 LOC100287294 LOC401357 LOC650226 PHKG1 LOC107986800 GBAS CHCHD2 MIR4283-1 SUMF2 LOC100130849 CCT6A SNORA15 ZNF713 LOC100240728
esv3613248	Chr.7:55667080 - 56415551 on Build GRCh38	Gain	PSPH SEPT14 NUPR2 MRPS17 FKBP9P1 LOC101060341 PHKG1 LOC107986800 GBAS CHCHD2 SUMF2 CCT6A PSPHP1 SNORA15 ZNF713
esv2734447	Chr.7:55664175 - 56422045 on Build GRCh38	Deletion	PSPH SEPT14 NUPR2 MRPS17 FKBP9P1 LOC101060341 PHKG1 LOC107986800 GBAS CHCHD2 SUMF2 CCT6A PSPHP1 SNORA15 ZNF713

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

oxidative phosphorylation
ATP biosynthetic process
negative regulation of ATP citrate synthase activity

Function(s)

protein binding