Hs05006969_cn

• Gene Symbol: GBAS
• Assay Reference Genome Location: Chr.7:55978745 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 3

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

More Information

Additional Information:

For this assay, SNP(s) [rs73343719] 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