Hs03032920_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144084594 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: Overlaps Exon 7 - Intron 7

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

More Information

• Set Membership: Intragenic, Non-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