Hs04996403_cn

• Gene Symbol: GBAS
• Assay Reference Genome Location: Chr.7:55970820 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GBAS	NM_001202469.1			NP_001189398.1
	NM_001483.2			NP_001474.1
	AF029786.1			AAC29002.1
	AJ001259.1			CAA04633.1
	AK097049.1
	AK315648.1
	BC000732.2			AAH00732.1
	BC001837.2			AAH01837.1
	BC030821.1			AAH30821.1
	BT007112.1			AAP35776.1
	CR407612.1			CAG28540.1
	CX166452.1

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

More Information

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

Gene Ontology Categories:

Process(es)

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

Function(s)

protein binding