Hs07531400_cn

• Gene Symbol: GBAS
• Assay Reference Genome Location: Chr.7:55992861 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 7

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
	AK125036.1
	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 CHCHD2 CCT6A SNORA15 SUMF2 GBAS NUPR2 PSPH
esv2761334	Chr.7:55755888 - 56357046 on Build GRCh38	Gain	ZNF713 PHKG1 SEPT14 CHCHD2 CCT6A MRPS17 SNORA15 SUMF2 GBAS NUPR2 PSPHP1 PSPH
dgv1201e199	Chr.7:55674375 - 56426809 on Build GRCh38	Deletion	ZNF713 LOC650226 MRPS17 SNORA15 LOC107986800 GBAS NUPR2 PHKG1 FKBP9P1 SEPT14 LOC101060341 CHCHD2 CCT6A SUMF2 PSPHP1 PSPH
nsv1019400	Chr.7:55642134 - 56026847 on Build GRCh38	Gain	ZNF713 FKBP9P1 SEPT14 LOC101060341 MRPS17 GBAS PSPHP1 PSPH
dgv6362n100	Chr.7:55894466 - 56026847 on Build GRCh38	Gain	ZNF713 MRPS17 GBAS PSPH
nsv1017793	Chr.7:55983574 - 56030337 on Build GRCh38	Gain	GBAS PSPH
esv28230	Chr.7:55552107 - 56317719 on Build GRCh38	Gain+Loss	ZNF713 MRPS17 SNORA15 GBAS NUPR2 PHKG1 FKBP9P1 SEPT14 LOC101060341 CHCHD2 CCT6A SUMF2 VOPP1 PSPHP1 PSPH
esv2734448	Chr.7:55785310 - 57103280 on Build GRCh38	Deletion	ZNF713 LOC650226 MRPS17 SNORA15 LOC107986800 GBAS LOC101928401 MIR4283-1 NUPR2 DKFZp434L192 LOC100287294 PHKG1 LOC100130849 SEPT14 LOC401357 CHCHD2 CCT6A LOC100240728 SUMF2 PSPH
esv3613248	Chr.7:55667080 - 56415551 on Build GRCh38	Gain	ZNF713 MRPS17 SNORA15 LOC107986800 GBAS NUPR2 PHKG1 FKBP9P1 SEPT14 LOC101060341 CHCHD2 CCT6A SUMF2 PSPHP1 PSPH
esv2734447	Chr.7:55664175 - 56422045 on Build GRCh38	Deletion	ZNF713 MRPS17 SNORA15 LOC107986800 GBAS NUPR2 PHKG1 FKBP9P1 SEPT14 LOC101060341 CHCHD2 CCT6A SUMF2 PSPHP1 PSPH

More Information

Additional Information:

For this assay, SNP(s) [rs74599679] 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, 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