Hs01231235_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144083443 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPAA1	NM_003801.3	3	419	NP_003792.1
	AB002135.1	3	404	BAA82588.1
	AB006969.1	3	317	BAA24035.1
	AK312759.1	3	431
	AL157437.1	3	703	CAB75660.2
	BC003171.1	3	395	AAH03171.1
	BC004129.2	3	419	AAH04129.1
	BC006383.2	2	192	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	GPAA1 EXOSC4 SHARPIN WDR97 HGH1 CYC1 MIR6847 MAF1 MROH1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	GRINA FBXL6 GPT SCRT1 SPATC1 RECQL4 OPLAH SMPD5 SLC39A4 MIR6847 FOXH1 CPSF1 VPS28 PARP10 SHARPIN CYHR1 HGH1 LOC101928902 DGAT1 BOP1 MIR6893 MIR661 MAF1 TMEM249 MIR6849 MIR939 ADCK5 WDR97 MFSD3 SCX LRRC14 MIR6848 SLC52A2 GPAA1 HSF1 EXOSC4 MIR6846 PLEC MIR7112 PPP1R16A KIFC2 CYC1 TONSL-AS1 TONSL MROH1 MIR1234 LOC101928953
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	GRINA SPATC1 WDR97 OPLAH SMPD5 MIR6847 GPAA1 EXOSC4 MIR6846 PLEC PARP10 SHARPIN CYC1 MAF1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	GRINA SPATC1 WDR97 OPLAH SMPD5 EPPK1 MIR6847 GPAA1 EXOSC4 MIR6846 PLEC PARP10 SHARPIN CYC1 MIR661 MAF1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SPATC1 WDR97 OPLAH SMPD5 SCX MIR6847 GPAA1 HSF1 EXOSC4 MIR6846 SHARPIN MIR7112 HGH1 CYC1 BOP1 MAF1 MROH1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	GPAA1 EXOSC4 SHARPIN WDR97 HGH1 CYC1 MIR6847 MAF1 MROH1
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SPATC1 WDR97 OPLAH SMPD5 MIR6847 GPAA1 EXOSC4 MIR6846 SHARPIN HGH1 CYC1 MAF1 MROH1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	GRINA FBXL6 GPT SCRT1 SPATC1 RECQL4 OPLAH SMPD5 SLC39A4 MIR6847 FOXH1 CPSF1 VPS28 PARP10 SHARPIN CYHR1 HGH1 LOC101928902 DGAT1 BOP1 MIR6893 MIR661 MAF1 TMEM249 MIR6849 MIR939 ADCK5 WDR97 MFSD3 SCX LRRC14 MIR6848 SLC52A2 GPAA1 HSF1 EXOSC4 MIR6846 PLEC MIR7112 PPP1R16A KIFC2 CYC1 TONSL-AS1 TONSL MROH1 MIR1234 LOC101928953
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 EXOSC4 MIR6847
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	GRINA SPATC1 WDR97 OPLAH SMPD5 EPPK1 MIR6847 GPAA1 EXOSC4 MIR6846 PLEC PARP10 SHARPIN HGH1 CYC1 MIR661 MAF1 MROH1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	GRINA SPATC1 WDR97 OPLAH SMPD5 MIR6847 GPAA1 EXOSC4 MIR6846 PLEC PARP10 SHARPIN CYC1 MIR661 MAF1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	GPAA1 GRINA EXOSC4 MIR6846 PLEC PARP10 SPATC1 OPLAH SMPD5 CYC1 MIR6847 MIR661
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	FBXL6 ARHGAP39 GPT SCRT1 SPATC1 RECQL4 OPLAH SMPD5 SLC39A4 MIR6847 C8orf82 FOXH1 CPSF1 VPS28 LRRC24 SHARPIN CYHR1 HGH1 LOC101928902 DGAT1 BOP1 MIR6893 MAF1 TMEM249 ZNF251 MIR6849 MIR939 ADCK5 WDR97 MFSD3 SCX LRRC14 MIR6848 SLC52A2 GPAA1 HSF1 EXOSC4 MIR6846 MIR7112 PPP1R16A KIFC2 CYC1 TONSL-AS1 TONSL MROH1 MIR1234 LOC101928953
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	GPAA1 GRINA EXOSC4 MIR6846 PLEC PARP10 SPATC1 OPLAH SMPD5 CYC1 MIR6847 MIR661

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