Hs01531614_cn

• Gene Symbol: GAB4
• Assay Reference Genome Location: Chr.22:16966226 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: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GAB4	NM_001037814.1	6	1270	NP_001032903.1
	XM_011546114.2	4	863	XP_011544416.1
	XM_011546115.1	5	804	XP_011544417.1
	XM_011546117.1	4	560	XP_011544419.1
	XM_017028575.1	6	1322	XP_016884064.1
	XM_017028576.1	4	491	XP_016884065.1
	AB076978.1	6	1270	BAD06454.1
	AK057252.1	5	1862

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	ANKRD62P1-PARP4P3 XKR3 GAB4 CCT8L2 HSFY1P1 ACTR3BP6 LOC101929350 TPTEP1
dgv4460n100	Chr.22:16384224 - 17135620 on Build GRCh38	Gain	LOC100996342 ANKRD62P1-PARP4P3 XKR3 GAB4 CCT8L2 HSFY1P1 CECR6 ACTR3BP6 CECR7 LOC101929350 TPTEP1 IL17RA
esv3647204	Chr.22:16939332 - 17123705 on Build GRCh38	Gain	LOC100996342 GAB4 CECR6 CECR7 IL17RA
nsv588077	Chr.22:16674094 - 16972076 on Build GRCh38	Gain	ANKRD62P1-PARP4P3 XKR3 GAB4 HSFY1P1 LOC101929350
esv1004225	Chr.22:16965391 - 16973576 on Build GRCh38	Deletion	GAB4
esv3575406	Chr.22:16408174 - 16982154 on Build GRCh38	Gain	ANKRD62P1-PARP4P3 XKR3 GAB4 CCT8L2 HSFY1P1 ACTR3BP6 LOC101929350 TPTEP1
nsv527637	Chr.22:16437596 - 16981295 on Build GRCh38	Gain	ANKRD62P1-PARP4P3 XKR3 GAB4 CCT8L2 HSFY1P1 ACTR3BP6 LOC101929350 TPTEP1
dgv4463n100	Chr.22:16749141 - 17081023 on Build GRCh38	Gain	XKR3 GAB4 HSFY1P1 CECR7
nsv1067241	Chr.22:16757380 - 17351252 on Build GRCh38	Loss	LOC100996342 CECR1 XKR3 GAB4 HSFY1P1 CECR6 CECR7 CECR5 CECR3 CECR5-AS1 IL17RA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein