Hs02111593_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144083742 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 3 - Exon 4

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	3	1002	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	SHARPIN WDR97 HGH1 CYC1 MROH1 MAF1 EXOSC4 MIR6847 GPAA1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	VPS28 CYC1 MIR7112 MIR939 MIR6893 MFSD3 MAF1 SLC52A2 MIR6847 SCX TMEM249 FBXL6 MIR6848 PARP10 MIR1234 CPSF1 PLEC FOXH1 SCRT1 KIFC2 DGAT1 EXOSC4 MIR6846 GPT LOC101928953 ADCK5 GPAA1 SMPD5 BOP1 SHARPIN WDR97 SPATC1 HGH1 SLC39A4 MROH1 MIR6849 MIR661 OPLAH TONSL CYHR1 RECQL4 HSF1 GRINA TONSL-AS1 LRRC14 PPP1R16A LOC101928902
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SMPD5 SHARPIN WDR97 SPATC1 CYC1 MAF1 OPLAH MIR6847 PARP10 PLEC GRINA EXOSC4 MIR6846 GPAA1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SMPD5 SHARPIN WDR97 SPATC1 CYC1 MIR661 MAF1 OPLAH MIR6847 PARP10 PLEC GRINA EPPK1 EXOSC4 MIR6846 GPAA1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SMPD5 BOP1 SHARPIN WDR97 SPATC1 HGH1 CYC1 MROH1 MIR7112 MAF1 OPLAH MIR6847 SCX HSF1 EXOSC4 MIR6846 GPAA1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	SHARPIN WDR97 HGH1 CYC1 MROH1 MAF1 EXOSC4 MIR6847 GPAA1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SMPD5 SHARPIN WDR97 SPATC1 HGH1 CYC1 MROH1 MAF1 OPLAH MIR6847 EXOSC4 MIR6846 GPAA1
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	EXOSC4 MIR6847 GPAA1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	VPS28 CYC1 MIR7112 MIR939 MIR6893 MFSD3 MAF1 SLC52A2 MIR6847 SCX TMEM249 FBXL6 MIR6848 PARP10 MIR1234 CPSF1 PLEC FOXH1 SCRT1 KIFC2 DGAT1 EXOSC4 MIR6846 GPT LOC101928953 ADCK5 GPAA1 SMPD5 BOP1 SHARPIN WDR97 SPATC1 HGH1 SLC39A4 MROH1 MIR6849 MIR661 OPLAH TONSL CYHR1 RECQL4 HSF1 GRINA TONSL-AS1 LRRC14 PPP1R16A LOC101928902
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SMPD5 SHARPIN WDR97 SPATC1 HGH1 CYC1 MROH1 MIR661 MAF1 OPLAH MIR6847 PARP10 PLEC GRINA EPPK1 EXOSC4 MIR6846 GPAA1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	VPS28 CYC1 MIR7112 MIR939 MIR6893 MFSD3 MAF1 ZNF251 SLC52A2 MIR6847 SCX TMEM249 FBXL6 MIR6848 MIR1234 CPSF1 FOXH1 SCRT1 KIFC2 DGAT1 EXOSC4 MIR6846 GPT LOC101928953 ADCK5 GPAA1 SMPD5 BOP1 SHARPIN WDR97 SPATC1 HGH1 SLC39A4 MROH1 MIR6849 OPLAH TONSL LRRC24 CYHR1 RECQL4 HSF1 TONSL-AS1 C8orf82 LRRC14 PPP1R16A LOC101928902 ARHGAP39
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SMPD5 PLEC GRINA SPATC1 CYC1 MIR661 OPLAH EXOSC4 MIR6846 MIR6847 PARP10 GPAA1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SMPD5 SHARPIN WDR97 SPATC1 CYC1 MIR661 MAF1 OPLAH MIR6847 PARP10 PLEC GRINA EXOSC4 MIR6846 GPAA1
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	SMPD5 PLEC GRINA SPATC1 MIR661 OPLAH EXOSC4 MIR6846 MIR6847 PARP10 GPAA1

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