Hs03001687_cn

• Gene Symbol: GGA1
• Assay Reference Genome Location: Chr.22:37608795 on build GRCh38
• Cytoband: 22q13.1

Target Gene Details

• Entrez Gene ID: 26088
• Gene Name: golgi associated, gamma adaptin ear containing, ARF binding protein 1
• Gene Aliases: -
• Location: Chr.22:37607235-37633564 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GGA1	NM_001001560.2	1	322	NP_001001560.1
	NM_001172687.1	1	322	NP_001166158.1
	NM_013365.4	1	322	NP_037497.1
	XM_005261517.3	2	496	XP_005261574.1
	XM_011530122.1	2	429	XP_011528424.1
	XM_011530124.1	2	496	XP_011528426.1
	XM_017028760.1	2	496	XP_016884249.1
	XM_017028762.1	2	496	XP_016884251.1
	XM_017028763.1			XP_016884252.1
	AF190862.1			AAF05707.1
	AF218584.1			AAF42847.1
	AF233521.1			AAF35393.1
	AK075256.1	1	300	BAC11501.1
	AK225157.1
	AK290548.1
	BC010917.1			AAH10917.1
	BC029388.1			AAH29388.1
	BC044629.1			AAH44629.1
	CR456493.1	1	71	CAG30379.1
	DA455573.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829203	Chr.22:36998126 - 37773322 on Build GRCh38	Loss	RAC2 SSTR3 MFNG CARD10 LOC102724378 CYTH4 LGALS2 MPST C1QTNF6 IL2RB KCTD17 GGA1 ELFN2 SH3BP1 TST PDXP CDC42EP1 TRIOBP LGALS1 TEX33 NOL12 LOC100506271 LOC101927051 TMPRSS6
esv2758838	Chr.22:37607870 - 37869871 on Build GRCh38	Loss	MIR658 LOC102724378 GALR3 GGA1 SH3BP1 EIF3L ANKRD54 PDXP TRIOBP LGALS1 MIR659 GCAT NOL12 H1F0 LOC101927051
nsv471197	Chr.22:37600773 - 37762734 on Build GRCh38	Loss	SH3BP1 PDXP LOC102724378 TRIOBP LGALS1 NOL12 GGA1 LOC101927051
nsv834191	Chr.22:37533773 - 37717344 on Build GRCh38	Loss	SH3BP1 PDXP LGALS2 CDC42EP1 TRIOBP LGALS1 NOL12 GGA1 LOC101927051
nsv1057617	Chr.22:37462633 - 37713698 on Build GRCh38	Gain	SH3BP1 MFNG PDXP CARD10 LGALS2 CDC42EP1 TRIOBP LGALS1 NOL12 GGA1 LOC101927051

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

intracellular protein transport
vesicle-mediated transport
cellular protein metabolic process
positive regulation of protein catabolic process
toxin transport

Function(s)

molecular_function
protein binding