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