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 GPAA1 HGH1 CYC1 MIR6847 SHARPIN WDR97 MAF1 EXOSC4
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	PARP10 GPT MIR1234 MIR6848 FBXL6 TMEM249 LOC101928953 SCRT1 RECQL4 SMPD5 PLEC CPSF1 SHARPIN SPATC1 CYHR1 MIR661 GRINA TONSL MIR6849 FOXH1 LOC101928902 MIR7112 MIR6847 WDR97 TONSL-AS1 EXOSC4 DGAT1 MIR6893 SCX SLC52A2 SLC39A4 VPS28 MFSD3 ADCK5 LRRC14 OPLAH MROH1 HSF1 BOP1 GPAA1 HGH1 CYC1 KIFC2 MIR6846 MIR939 MAF1 PPP1R16A
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	PARP10 SMPD5 PLEC SHARPIN SPATC1 OPLAH GPAA1 CYC1 MIR6846 GRINA MIR6847 WDR97 MAF1 EXOSC4
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	PARP10 EPPK1 SMPD5 PLEC SHARPIN SPATC1 OPLAH GPAA1 MIR661 CYC1 MIR6846 GRINA MIR6847 WDR97 MAF1 EXOSC4
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	SCX SMPD5 SHARPIN SPATC1 OPLAH MROH1 HSF1 BOP1 GPAA1 HGH1 CYC1 MIR6846 MIR7112 MIR6847 WDR97 MAF1 EXOSC4
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MROH1 GPAA1 HGH1 CYC1 MIR6847 SHARPIN WDR97 MAF1 EXOSC4
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SMPD5 SHARPIN SPATC1 OPLAH MROH1 GPAA1 HGH1 CYC1 MIR6846 MIR6847 WDR97 MAF1 EXOSC4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	PARP10 GPT MIR1234 MIR6848 FBXL6 TMEM249 LOC101928953 SCRT1 RECQL4 SMPD5 PLEC CPSF1 SHARPIN SPATC1 CYHR1 MIR661 GRINA TONSL MIR6849 FOXH1 LOC101928902 MIR7112 MIR6847 WDR97 TONSL-AS1 EXOSC4 DGAT1 MIR6893 SCX SLC52A2 SLC39A4 VPS28 MFSD3 ADCK5 LRRC14 OPLAH MROH1 HSF1 BOP1 GPAA1 HGH1 CYC1 KIFC2 MIR6846 MIR939 MAF1 PPP1R16A
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	GPAA1 MIR6847 EXOSC4
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	PARP10 EPPK1 SMPD5 PLEC SHARPIN SPATC1 OPLAH MROH1 GPAA1 MIR661 HGH1 CYC1 MIR6846 GRINA MIR6847 WDR97 MAF1 EXOSC4
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	PARP10 SMPD5 PLEC SHARPIN SPATC1 OPLAH GPAA1 MIR661 CYC1 MIR6846 GRINA MIR6847 WDR97 MAF1 EXOSC4
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	PARP10 OPLAH GPAA1 MIR661 CYC1 MIR6846 GRINA SMPD5 PLEC MIR6847 SPATC1 EXOSC4
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	GPT MIR1234 MIR6848 FBXL6 TMEM249 LOC101928953 SCRT1 RECQL4 SMPD5 LRRC24 CPSF1 SHARPIN SPATC1 CYHR1 ARHGAP39 ZNF251 TONSL MIR6849 FOXH1 LOC101928902 MIR7112 MIR6847 WDR97 TONSL-AS1 EXOSC4 DGAT1 MIR6893 SCX SLC52A2 SLC39A4 VPS28 MFSD3 ADCK5 LRRC14 OPLAH MROH1 HSF1 BOP1 GPAA1 C8orf82 HGH1 CYC1 KIFC2 MIR6846 MIR939 MAF1 PPP1R16A
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	PARP10 OPLAH GPAA1 MIR661 CYC1 MIR6846 GRINA SMPD5 PLEC MIR6847 SPATC1 EXOSC4

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