Hs02736305_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144085763 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 11 - Intron 11

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