Hs00214842_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144084746 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 Intron 7 - Exon 8

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