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	WDR97 MAF1 CYC1 MIR6847 EXOSC4 HGH1 MROH1 SHARPIN GPAA1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	WDR97 CPSF1 LRRC14 MIR939 CYC1 KIFC2 HSF1 MIR6848 MIR1234 LOC101928902 VPS28 MIR6893 MFSD3 PARP10 MIR7112 SMPD5 GPT MIR6847 TMEM249 CYHR1 TONSL-AS1 FOXH1 SLC39A4 PLEC MIR6846 FBXL6 MAF1 SPATC1 SCX MIR6849 MIR661 HGH1 GRINA OPLAH GPAA1 TONSL ADCK5 SLC52A2 DGAT1 PPP1R16A BOP1 LOC101928953 EXOSC4 MROH1 SHARPIN RECQL4 SCRT1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	WDR97 MAF1 SPATC1 CYC1 GRINA OPLAH PARP10 GPAA1 SMPD5 MIR6847 EXOSC4 SHARPIN PLEC MIR6846
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	WDR97 MAF1 SPATC1 CYC1 MIR661 GRINA OPLAH EPPK1 PARP10 GPAA1 SMPD5 MIR6847 EXOSC4 SHARPIN PLEC MIR6846
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	WDR97 MAF1 SPATC1 SCX CYC1 HSF1 HGH1 OPLAH GPAA1 MIR7112 SMPD5 MIR6847 BOP1 EXOSC4 MROH1 SHARPIN MIR6846
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	WDR97 MAF1 CYC1 MIR6847 EXOSC4 HGH1 MROH1 SHARPIN GPAA1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	WDR97 MAF1 SPATC1 CYC1 HGH1 OPLAH GPAA1 SMPD5 MIR6847 EXOSC4 MROH1 SHARPIN MIR6846
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	MIR6847 EXOSC4 GPAA1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	WDR97 CPSF1 LRRC14 MIR939 CYC1 KIFC2 HSF1 MIR6848 MIR1234 LOC101928902 VPS28 MIR6893 MFSD3 PARP10 MIR7112 SMPD5 GPT MIR6847 TMEM249 CYHR1 TONSL-AS1 FOXH1 SLC39A4 PLEC MIR6846 FBXL6 MAF1 SPATC1 SCX MIR6849 MIR661 HGH1 GRINA OPLAH GPAA1 TONSL ADCK5 SLC52A2 DGAT1 PPP1R16A BOP1 LOC101928953 EXOSC4 MROH1 SHARPIN RECQL4 SCRT1
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	WDR97 MAF1 SPATC1 CYC1 MIR661 HGH1 GRINA OPLAH EPPK1 PARP10 GPAA1 SMPD5 MIR6847 EXOSC4 MROH1 SHARPIN PLEC MIR6846
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	WDR97 CPSF1 ZNF251 LRRC14 MIR939 CYC1 KIFC2 HSF1 MIR6848 MIR1234 LOC101928902 C8orf82 VPS28 MIR6893 MFSD3 MIR7112 SMPD5 GPT LRRC24 ARHGAP39 MIR6847 TMEM249 CYHR1 TONSL-AS1 FOXH1 SLC39A4 MIR6846 FBXL6 MAF1 SPATC1 SCX MIR6849 HGH1 OPLAH GPAA1 TONSL ADCK5 SLC52A2 DGAT1 PPP1R16A BOP1 LOC101928953 EXOSC4 MROH1 SHARPIN RECQL4 SCRT1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SPATC1 CYC1 MIR6847 MIR661 EXOSC4 GRINA OPLAH PLEC PARP10 GPAA1 MIR6846 SMPD5
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	WDR97 MAF1 SPATC1 CYC1 MIR661 GRINA OPLAH PARP10 GPAA1 SMPD5 MIR6847 EXOSC4 SHARPIN PLEC MIR6846
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	SPATC1 MIR6847 MIR661 EXOSC4 GRINA OPLAH PLEC PARP10 GPAA1 MIR6846 SMPD5

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