Hs02253550_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144085376 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 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPAA1	NM_003801.3	10	1458	NP_003792.1
	AB002135.1	10	1443	BAA82588.1
	AB006969.1	10	1356	BAA24035.1
	AK312759.1	10	1470
	AL157437.1	9	1955	CAB75660.2
	BC003171.1	10	1434	AAH03171.1
	BC004129.2	10	1458	AAH04129.1
	BC006383.2	9	1231	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	GPAA1 SHARPIN MIR6847 MROH1 MAF1 HGH1 WDR97 EXOSC4 CYC1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	GRINA MIR939 SHARPIN BOP1 DGAT1 VPS28 MIR661 MIR1234 HGH1 WDR97 PLEC SCRT1 PPP1R16A MIR6847 KIFC2 RECQL4 MFSD3 TONSL-AS1 CYHR1 GPT MAF1 LRRC14 CYC1 MIR6893 LOC101928902 SLC39A4 TONSL TMEM249 MIR6848 PARP10 MIR7112 HSF1 SPATC1 SLC52A2 MROH1 CPSF1 EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6849 LOC101928953 FBXL6 FOXH1 SCX ADCK5
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	GRINA PARP10 SHARPIN SPATC1 WDR97 PLEC EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6847 MAF1 CYC1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	GRINA PARP10 SHARPIN SPATC1 MIR661 WDR97 PLEC EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6847 MAF1 CYC1 EPPK1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SHARPIN BOP1 MIR7112 HSF1 SPATC1 MROH1 HGH1 WDR97 EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6847 SCX MAF1 CYC1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	GPAA1 SHARPIN MIR6847 MROH1 MAF1 HGH1 WDR97 EXOSC4 CYC1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SHARPIN SPATC1 MROH1 HGH1 WDR97 EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6847 MAF1 CYC1
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 MIR6847 EXOSC4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	GRINA MIR939 SHARPIN BOP1 DGAT1 VPS28 MIR661 MIR1234 HGH1 WDR97 PLEC SCRT1 PPP1R16A MIR6847 KIFC2 RECQL4 MFSD3 TONSL-AS1 CYHR1 GPT MAF1 LRRC14 CYC1 MIR6893 LOC101928902 SLC39A4 TONSL TMEM249 MIR6848 PARP10 MIR7112 HSF1 SPATC1 SLC52A2 MROH1 CPSF1 EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6849 LOC101928953 FBXL6 FOXH1 SCX ADCK5
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	GRINA PARP10 SHARPIN SPATC1 MROH1 MIR661 HGH1 WDR97 PLEC EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6847 MAF1 CYC1 EPPK1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR939 SHARPIN BOP1 DGAT1 VPS28 C8orf82 MIR1234 HGH1 WDR97 SCRT1 PPP1R16A MIR6847 KIFC2 RECQL4 MFSD3 TONSL-AS1 CYHR1 GPT MAF1 LRRC14 CYC1 MIR6893 LOC101928902 SLC39A4 TONSL TMEM249 MIR6848 MIR7112 HSF1 LRRC24 SPATC1 SLC52A2 MROH1 CPSF1 ZNF251 EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6849 LOC101928953 FBXL6 FOXH1 ARHGAP39 SCX ADCK5
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR6846 GPAA1 OPLAH GRINA PARP10 SMPD5 MIR6847 SPATC1 MIR661 PLEC EXOSC4 CYC1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	GRINA PARP10 SHARPIN SPATC1 MIR661 WDR97 PLEC EXOSC4 MIR6846 GPAA1 OPLAH SMPD5 MIR6847 MAF1 CYC1
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	MIR6846 GPAA1 OPLAH GRINA PARP10 SMPD5 MIR6847 SPATC1 MIR661 PLEC 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