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	EXOSC4 HGH1 MROH1 SHARPIN MIR6847 GPAA1 MAF1 CYC1 WDR97
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MIR661 MIR1234 MFSD3 HSF1 FBXL6 SLC39A4 CYHR1 MAF1 LOC101928902 RECQL4 TMEM249 MIR939 TONSL-AS1 EXOSC4 SLC52A2 SHARPIN PARP10 GPAA1 CPSF1 SMPD5 SPATC1 SCX HGH1 MROH1 MIR6849 OPLAH MIR6847 LRRC14 LOC101928953 CYC1 FOXH1 MIR6848 SCRT1 GPT BOP1 ADCK5 GRINA DGAT1 PPP1R16A MIR6846 MIR6893 PLEC TONSL VPS28 KIFC2 WDR97 MIR7112
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	OPLAH MIR6847 MAF1 CYC1 EXOSC4 SHARPIN GRINA PARP10 MIR6846 GPAA1 PLEC SMPD5 SPATC1 WDR97
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR661 OPLAH MIR6847 EPPK1 MAF1 CYC1 EXOSC4 SHARPIN GRINA PARP10 MIR6846 GPAA1 PLEC SMPD5 SPATC1 WDR97
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SCX HGH1 MROH1 HSF1 OPLAH MIR6847 MAF1 CYC1 BOP1 EXOSC4 SHARPIN MIR6846 GPAA1 SMPD5 SPATC1 WDR97 MIR7112
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	EXOSC4 HGH1 MROH1 SHARPIN MIR6847 GPAA1 MAF1 CYC1 WDR97
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	HGH1 MROH1 OPLAH MIR6847 MAF1 CYC1 EXOSC4 SHARPIN MIR6846 GPAA1 SMPD5 SPATC1 WDR97
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR661 MIR1234 MFSD3 HSF1 FBXL6 SLC39A4 CYHR1 MAF1 LOC101928902 RECQL4 TMEM249 MIR939 TONSL-AS1 EXOSC4 SLC52A2 SHARPIN PARP10 GPAA1 CPSF1 SMPD5 SPATC1 SCX HGH1 MROH1 MIR6849 OPLAH MIR6847 LRRC14 LOC101928953 CYC1 FOXH1 MIR6848 SCRT1 GPT BOP1 ADCK5 GRINA DGAT1 PPP1R16A MIR6846 MIR6893 PLEC TONSL VPS28 KIFC2 WDR97 MIR7112
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	EXOSC4 MIR6847 GPAA1
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MIR661 HGH1 MROH1 OPLAH MIR6847 EPPK1 MAF1 CYC1 EXOSC4 SHARPIN GRINA PARP10 MIR6846 GPAA1 PLEC SMPD5 SPATC1 WDR97
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MIR661 OPLAH MIR6847 MAF1 CYC1 EXOSC4 SHARPIN GRINA PARP10 MIR6846 GPAA1 PLEC SMPD5 SPATC1 WDR97
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR661 EXOSC4 GRINA OPLAH MIR6847 PARP10 MIR6846 GPAA1 CYC1 PLEC SMPD5 SPATC1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR1234 MFSD3 HSF1 FBXL6 SLC39A4 CYHR1 MAF1 LOC101928902 RECQL4 TMEM249 MIR939 TONSL-AS1 EXOSC4 SLC52A2 SHARPIN GPAA1 CPSF1 SMPD5 SPATC1 C8orf82 SCX HGH1 MROH1 MIR6849 OPLAH MIR6847 LRRC14 LOC101928953 CYC1 FOXH1 MIR6848 SCRT1 ARHGAP39 GPT BOP1 ZNF251 ADCK5 LRRC24 DGAT1 PPP1R16A MIR6846 MIR6893 TONSL VPS28 KIFC2 WDR97 MIR7112
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	MIR661 EXOSC4 GRINA OPLAH MIR6847 PARP10 MIR6846 GPAA1 CYC1 PLEC SMPD5 SPATC1

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