Hs02238454_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144084025 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 5 - Intron 5

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

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