Hs01500230_cn

• Gene Symbol: GAB4
• Assay Reference Genome Location: Chr.22:16963851 on build GRCh38
• Cytoband: 22q11.1

Target Gene Details

• Entrez Gene ID: 128954
• Gene Name: GRB2 associated binding protein family member 4
• Gene Aliases: -
• Location: Chr.22:16961936-17008281 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GAB4	NM_001037814.1			NP_001032903.1
	XM_011546114.2			XP_011544416.1
	XM_011546115.1			XP_011544417.1
	XM_011546117.1			XP_011544419.1
	XM_017028575.1			XP_016884064.1
	XM_017028576.1			XP_016884065.1
	AB076978.1			BAD06454.1
	AK057252.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2763696	Chr.22:16384236 - 16983056 on Build GRCh38	Gain	ACTR3BP6 LOC101929350 CCT8L2 ANKRD62P1-PARP4P3 XKR3 TPTEP1 HSFY1P1 GAB4
esv3647204	Chr.22:16939332 - 17123705 on Build GRCh38	Gain	CECR7 IL17RA CECR6 LOC100996342 GAB4
dgv4460n100	Chr.22:16384224 - 17135620 on Build GRCh38	Gain	ACTR3BP6 CECR7 LOC101929350 CCT8L2 ANKRD62P1-PARP4P3 XKR3 TPTEP1 IL17RA CECR6 HSFY1P1 LOC100996342 GAB4
nsv588077	Chr.22:16674094 - 16972076 on Build GRCh38	Gain	LOC101929350 ANKRD62P1-PARP4P3 XKR3 HSFY1P1 GAB4
dgv4463n100	Chr.22:16749141 - 17081023 on Build GRCh38	Gain	CECR7 XKR3 HSFY1P1 GAB4
nsv527637	Chr.22:16437596 - 16981295 on Build GRCh38	Gain	ACTR3BP6 LOC101929350 CCT8L2 ANKRD62P1-PARP4P3 XKR3 TPTEP1 HSFY1P1 GAB4
esv3575406	Chr.22:16408174 - 16982154 on Build GRCh38	Gain	ACTR3BP6 LOC101929350 CCT8L2 ANKRD62P1-PARP4P3 XKR3 TPTEP1 HSFY1P1 GAB4
nsv1064641	Chr.22:16757380 - 17233805 on Build GRCh38	Gain	CECR7 CECR1 CECR5-AS1 XKR3 IL17RA CECR6 CECR5 HSFY1P1 LOC100996342 GAB4

More Information

Additional Information:

For this assay, SNP(s) [rs115602817] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein