Hs00160174_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144083179 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 8733
• Gene Name: glycosylphosphatidylinositol anchor attachment 1
• Gene Aliases: GAA1, hGAA1
• Location: Chr.8:144082621-144086216 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPAA1	NM_003801.3	2	240	NP_003792.1
	AB002135.1	2	225	BAA82588.1
	AB006969.1	2	138	BAA24035.1
	AK312759.1	2	252
	AL157437.1	2	524	CAB75660.2
	BC003171.1	2	216	AAH03171.1
	BC004129.2	2	240	AAH04129.1
	BC006383.2			AAH06383.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759651	Chr.8:144076281 - 144230741 on Build GRCh38	Gain	MIR6847 GPAA1 MROH1 HGH1 SHARPIN WDR97 MAF1 EXOSC4 CYC1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	VPS28 FOXH1 PLEC HSF1 LOC101928902 MIR7112 MIR939 MAF1 CYC1 PPP1R16A SMPD5 MIR6849 MIR6846 TMEM249 GPAA1 LRRC14 HGH1 MIR6848 DGAT1 GRINA MIR1234 SLC52A2 EXOSC4 SCX SPATC1 LOC101928953 MIR661 SCRT1 ADCK5 CPSF1 FBXL6 OPLAH GPT PARP10 WDR97 MIR6847 TONSL MFSD3 MIR6893 MROH1 BOP1 TONSL-AS1 SHARPIN SLC39A4 KIFC2 RECQL4 CYHR1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SPATC1 PLEC OPLAH PARP10 WDR97 MAF1 CYC1 MIR6847 SMPD5 MIR6846 GPAA1 SHARPIN GRINA EXOSC4
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SPATC1 PLEC MIR661 OPLAH PARP10 WDR97 MAF1 CYC1 MIR6847 SMPD5 MIR6846 GPAA1 SHARPIN GRINA EXOSC4 EPPK1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SPATC1 HSF1 MIR7112 OPLAH WDR97 MAF1 CYC1 MIR6847 SMPD5 MIR6846 GPAA1 MROH1 BOP1 HGH1 SHARPIN EXOSC4 SCX
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MIR6847 GPAA1 MROH1 HGH1 SHARPIN WDR97 MAF1 EXOSC4 CYC1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SPATC1 OPLAH WDR97 MAF1 CYC1 MIR6847 SMPD5 MIR6846 GPAA1 MROH1 HGH1 SHARPIN EXOSC4
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	MIR6847 GPAA1 EXOSC4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	VPS28 FOXH1 PLEC HSF1 LOC101928902 MIR7112 MIR939 MAF1 CYC1 PPP1R16A SMPD5 MIR6849 MIR6846 TMEM249 GPAA1 LRRC14 HGH1 MIR6848 DGAT1 GRINA MIR1234 SLC52A2 EXOSC4 SCX SPATC1 LOC101928953 MIR661 SCRT1 ADCK5 CPSF1 FBXL6 OPLAH GPT PARP10 WDR97 MIR6847 TONSL MFSD3 MIR6893 MROH1 BOP1 TONSL-AS1 SHARPIN SLC39A4 KIFC2 RECQL4 CYHR1
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SPATC1 PLEC MIR661 OPLAH PARP10 WDR97 MAF1 CYC1 MIR6847 SMPD5 MIR6846 GPAA1 MROH1 HGH1 SHARPIN GRINA EXOSC4 EPPK1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	VPS28 FOXH1 HSF1 LOC101928902 LRRC24 MIR7112 MIR939 MAF1 CYC1 PPP1R16A SMPD5 MIR6849 MIR6846 TMEM249 GPAA1 LRRC14 HGH1 MIR6848 ZNF251 ARHGAP39 DGAT1 MIR1234 C8orf82 SLC52A2 EXOSC4 SCX SPATC1 LOC101928953 SCRT1 ADCK5 CPSF1 FBXL6 OPLAH GPT WDR97 MIR6847 TONSL MFSD3 MIR6893 MROH1 BOP1 TONSL-AS1 SHARPIN SLC39A4 KIFC2 RECQL4 CYHR1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SPATC1 MIR6847 PLEC SMPD5 MIR661 MIR6846 GPAA1 GRINA OPLAH PARP10 EXOSC4 CYC1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SPATC1 PLEC MIR661 OPLAH PARP10 WDR97 MAF1 CYC1 MIR6847 SMPD5 MIR6846 GPAA1 SHARPIN GRINA EXOSC4
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	SPATC1 MIR6847 PLEC SMPD5 MIR661 MIR6846 GPAA1 GRINA OPLAH PARP10 EXOSC4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein complex assembly
protein retention in ER lumen
attachment of GPI anchor to protein

Function(s)

GPI-anchor transamidase activity
protein binding
tubulin binding
GPI anchor binding