Hs00880102_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144082689 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPAA1	NM_003801.3			NP_003792.1
	AB002135.1			BAA82588.1
	AK312759.1	1	80
	AL157437.1	1	353	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 SHARPIN WDR97 HGH1 GPAA1 MIR6847 CYC1 MAF1 EXOSC4
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	SPATC1 GRINA PPP1R16A HSF1 SLC52A2 MIR6847 MIR7112 MIR1234 LRRC14 MIR6848 ADCK5 MFSD3 TONSL WDR97 GPAA1 MIR6893 CYHR1 OPLAH MAF1 SLC39A4 SCRT1 SMPD5 FBXL6 SHARPIN FOXH1 MIR939 EXOSC4 MIR661 TONSL-AS1 BOP1 DGAT1 MIR6849 VPS28 TMEM249 SCX MIR6846 KIFC2 MROH1 PLEC HGH1 RECQL4 GPT LOC101928953 LOC101928902 CYC1 PARP10 CPSF1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SMPD5 SPATC1 GRINA SHARPIN MIR6847 EXOSC4 MIR6846 WDR97 PLEC GPAA1 OPLAH CYC1 PARP10 MAF1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SMPD5 SPATC1 GRINA EPPK1 SHARPIN MIR6847 EXOSC4 MIR661 MIR6846 WDR97 PLEC GPAA1 OPLAH CYC1 PARP10 MAF1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SMPD5 SPATC1 SHARPIN HSF1 MIR6847 MIR7112 EXOSC4 BOP1 SCX MIR6846 MROH1 WDR97 HGH1 GPAA1 OPLAH CYC1 MAF1
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MROH1 SHARPIN WDR97 HGH1 GPAA1 MIR6847 CYC1 MAF1 EXOSC4
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SMPD5 SPATC1 SHARPIN MIR6847 EXOSC4 MIR6846 MROH1 WDR97 HGH1 GPAA1 OPLAH CYC1 MAF1
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 MIR6847 EXOSC4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SPATC1 GRINA PPP1R16A HSF1 SLC52A2 MIR6847 MIR7112 MIR1234 LRRC14 MIR6848 ADCK5 MFSD3 TONSL WDR97 GPAA1 MIR6893 CYHR1 OPLAH MAF1 SLC39A4 SCRT1 SMPD5 FBXL6 SHARPIN FOXH1 MIR939 EXOSC4 MIR661 TONSL-AS1 BOP1 DGAT1 MIR6849 VPS28 TMEM249 SCX MIR6846 KIFC2 MROH1 PLEC HGH1 RECQL4 GPT LOC101928953 LOC101928902 CYC1 PARP10 CPSF1
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SMPD5 SPATC1 GRINA EPPK1 SHARPIN MIR6847 EXOSC4 MIR661 MIR6846 MROH1 WDR97 PLEC HGH1 GPAA1 OPLAH CYC1 PARP10 MAF1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SPATC1 PPP1R16A HSF1 SLC52A2 MIR6847 MIR7112 MIR1234 ARHGAP39 LRRC14 MIR6848 ADCK5 MFSD3 TONSL WDR97 GPAA1 MIR6893 ZNF251 CYHR1 OPLAH MAF1 SLC39A4 SCRT1 SMPD5 FBXL6 SHARPIN FOXH1 C8orf82 MIR939 EXOSC4 TONSL-AS1 BOP1 DGAT1 MIR6849 VPS28 TMEM249 SCX MIR6846 LRRC24 KIFC2 MROH1 HGH1 RECQL4 GPT LOC101928953 LOC101928902 CYC1 CPSF1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SMPD5 SPATC1 GRINA MIR6846 PLEC GPAA1 MIR6847 OPLAH CYC1 PARP10 EXOSC4 MIR661
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SMPD5 SPATC1 GRINA SHARPIN MIR6847 EXOSC4 MIR661 MIR6846 WDR97 PLEC GPAA1 OPLAH CYC1 PARP10 MAF1
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	SMPD5 SPATC1 GRINA MIR6846 PLEC GPAA1 MIR6847 OPLAH PARP10 EXOSC4 MIR661

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