Hs00160174_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144083179 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: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPAA1	NM_003801.3	2	240	NP_003792.1
	AB002135.1	2	225	BAA82588.1
	AB006969.1	2	138	BAA24035.1
	AK312759.1	2	252
	AL157437.1	2	524	CAB75660.2
	BC003171.1	2	216	AAH03171.1
	BC004129.2	2	240	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 MROH1 SHARPIN GPAA1 MAF1 WDR97 HGH1 CYC1 MIR6847
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	ADCK5 MIR6893 TMEM249 MIR6846 KIFC2 FBXL6 MROH1 LOC101928902 MIR7112 MIR661 GRINA WDR97 SCRT1 SMPD5 SCX HSF1 MFSD3 MIR6847 EXOSC4 CYHR1 DGAT1 OPLAH TONSL-AS1 VPS28 CPSF1 GPAA1 LOC101928953 MIR1234 CYC1 MIR939 RECQL4 FOXH1 BOP1 GPT SLC52A2 SHARPIN MAF1 MIR6848 LRRC14 SPATC1 PPP1R16A SLC39A4 MIR6849 PARP10 PLEC HGH1 TONSL
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	MIR6846 SHARPIN MAF1 GRINA WDR97 SMPD5 SPATC1 MIR6847 EXOSC4 OPLAH PARP10 GPAA1 PLEC CYC1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR6846 SHARPIN MIR661 MAF1 GRINA WDR97 SMPD5 SPATC1 MIR6847 EXOSC4 EPPK1 OPLAH PARP10 GPAA1 PLEC CYC1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	MIR6846 BOP1 MROH1 MIR7112 SHARPIN MAF1 WDR97 SMPD5 SCX HSF1 SPATC1 MIR6847 EXOSC4 OPLAH GPAA1 HGH1 CYC1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	EXOSC4 MROH1 SHARPIN GPAA1 MAF1 WDR97 HGH1 CYC1 MIR6847
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	MIR6846 MROH1 SHARPIN MAF1 WDR97 SMPD5 SPATC1 MIR6847 EXOSC4 OPLAH GPAA1 HGH1 CYC1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	ADCK5 MIR6893 TMEM249 MIR6846 KIFC2 FBXL6 MROH1 LOC101928902 MIR7112 MIR661 GRINA WDR97 SCRT1 SMPD5 SCX HSF1 MFSD3 MIR6847 EXOSC4 CYHR1 DGAT1 OPLAH TONSL-AS1 VPS28 CPSF1 GPAA1 LOC101928953 MIR1234 CYC1 MIR939 RECQL4 FOXH1 BOP1 GPT SLC52A2 SHARPIN MAF1 MIR6848 LRRC14 SPATC1 PPP1R16A SLC39A4 MIR6849 PARP10 PLEC HGH1 TONSL
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	EXOSC4 GPAA1 MIR6847
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MIR6846 MROH1 SHARPIN MIR661 MAF1 GRINA WDR97 SMPD5 SPATC1 MIR6847 EXOSC4 EPPK1 OPLAH PARP10 GPAA1 PLEC HGH1 CYC1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MIR6846 SHARPIN MIR661 MAF1 GRINA WDR97 SMPD5 SPATC1 MIR6847 EXOSC4 OPLAH PARP10 GPAA1 PLEC CYC1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	EXOSC4 MIR6846 OPLAH PARP10 MIR661 GPAA1 GRINA PLEC CYC1 SMPD5 SPATC1 MIR6847
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	ADCK5 MIR6893 TMEM249 C8orf82 MIR6846 KIFC2 FBXL6 MROH1 LOC101928902 MIR7112 WDR97 SCRT1 SMPD5 SCX HSF1 MFSD3 MIR6847 EXOSC4 CYHR1 ZNF251 DGAT1 OPLAH TONSL-AS1 VPS28 CPSF1 GPAA1 LOC101928953 MIR1234 CYC1 LRRC24 MIR939 RECQL4 FOXH1 BOP1 GPT SLC52A2 SHARPIN MAF1 MIR6848 LRRC14 SPATC1 PPP1R16A SLC39A4 MIR6849 ARHGAP39 HGH1 TONSL
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	EXOSC4 MIR6846 OPLAH PARP10 MIR661 GPAA1 GRINA PLEC CYC1 SMPD5 SPATC1 MIR6847

More Information

• Set Membership: Intragenic, 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