Hs02429229_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144084234 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPAA1	NM_003801.3	6	827	NP_003792.1
	AB002135.1	6	812	BAA82588.1
	AB006969.1	6	725	BAA24035.1
	AK312759.1	6	839
	AL157437.1	5	1324	CAB75660.2
	BC003171.1	6	803	AAH03171.1
	BC004129.2	6	827	AAH04129.1
	BC006383.2	5	600	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	MIR6847 EXOSC4 CYC1 MROH1 MAF1 SHARPIN HGH1 GPAA1 WDR97
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	SLC39A4 EXOSC4 CPSF1 GPT MIR6848 MIR1234 TONSL-AS1 OPLAH LRRC14 PLEC MIR6846 HSF1 MAF1 SPATC1 BOP1 FOXH1 MFSD3 RECQL4 SCRT1 HGH1 MIR661 PARP10 WDR97 FBXL6 DGAT1 MIR7112 SMPD5 CYHR1 MIR6849 MIR6893 LOC101928902 ADCK5 KIFC2 MIR6847 CYC1 SCX PPP1R16A TMEM249 SLC52A2 LOC101928953 VPS28 GRINA MROH1 SHARPIN TONSL GPAA1 MIR939
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SMPD5 EXOSC4 OPLAH PLEC MIR6846 MAF1 SPATC1 MIR6847 CYC1 GRINA SHARPIN GPAA1 PARP10 WDR97
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	EPPK1 SMPD5 EXOSC4 OPLAH PLEC MIR6846 MAF1 SPATC1 MIR6847 CYC1 GRINA SHARPIN GPAA1 MIR661 PARP10 WDR97
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	MIR7112 SMPD5 EXOSC4 OPLAH MIR6846 HSF1 MAF1 SPATC1 BOP1 MIR6847 CYC1 SCX MROH1 SHARPIN HGH1 GPAA1 WDR97
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MIR6847 EXOSC4 CYC1 MROH1 MAF1 SHARPIN HGH1 GPAA1 WDR97
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SMPD5 EXOSC4 OPLAH MIR6846 MAF1 SPATC1 MIR6847 CYC1 MROH1 SHARPIN HGH1 GPAA1 WDR97
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	MIR6847 EXOSC4 GPAA1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SLC39A4 EXOSC4 CPSF1 GPT MIR6848 MIR1234 TONSL-AS1 OPLAH LRRC14 PLEC MIR6846 HSF1 MAF1 SPATC1 BOP1 FOXH1 MFSD3 RECQL4 SCRT1 HGH1 MIR661 PARP10 WDR97 FBXL6 DGAT1 MIR7112 SMPD5 CYHR1 MIR6849 MIR6893 LOC101928902 ADCK5 KIFC2 MIR6847 CYC1 SCX PPP1R16A TMEM249 SLC52A2 LOC101928953 VPS28 GRINA MROH1 SHARPIN TONSL GPAA1 MIR939
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	EPPK1 SMPD5 EXOSC4 OPLAH PLEC MIR6846 MAF1 SPATC1 MIR6847 CYC1 GRINA MROH1 SHARPIN HGH1 GPAA1 MIR661 PARP10 WDR97
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SLC39A4 EXOSC4 CPSF1 GPT LRRC24 MIR6848 MIR1234 TONSL-AS1 OPLAH LRRC14 MIR6846 HSF1 MAF1 ARHGAP39 SPATC1 BOP1 FOXH1 MFSD3 RECQL4 ZNF251 SCRT1 HGH1 WDR97 FBXL6 DGAT1 MIR7112 SMPD5 CYHR1 MIR6849 MIR6893 LOC101928902 ADCK5 KIFC2 MIR6847 CYC1 SCX PPP1R16A TMEM249 SLC52A2 C8orf82 LOC101928953 VPS28 MROH1 SHARPIN TONSL GPAA1 MIR939
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SPATC1 SMPD5 MIR6847 EXOSC4 CYC1 OPLAH PLEC MIR6846 GRINA GPAA1 MIR661 PARP10
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SMPD5 EXOSC4 OPLAH PLEC MIR6846 MAF1 SPATC1 MIR6847 CYC1 GRINA SHARPIN GPAA1 MIR661 PARP10 WDR97
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	SPATC1 SMPD5 MIR6847 EXOSC4 OPLAH PLEC MIR6846 GRINA GPAA1 MIR661 PARP10

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