Hs02253550_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144085376 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 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPAA1	NM_003801.3	10	1458	NP_003792.1
	AB002135.1	10	1443	BAA82588.1
	AB006969.1	10	1356	BAA24035.1
	AK312759.1	10	1470
	AL157437.1	9	1955	CAB75660.2
	BC003171.1	10	1434	AAH03171.1
	BC004129.2	10	1458	AAH04129.1
	BC006383.2	9	1231	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 MIR6847 GPAA1 WDR97 HGH1 EXOSC4 SHARPIN MAF1 CYC1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	OPLAH MIR7112 MFSD3 MIR6848 PARP10 HGH1 TONSL RECQL4 TMEM249 ADCK5 SMPD5 BOP1 SCX MIR1234 LOC101928902 MIR6849 LOC101928953 FBXL6 MIR939 CPSF1 HSF1 LRRC14 MROH1 MIR6847 GPAA1 SPATC1 EXOSC4 SLC52A2 MAF1 CYHR1 SLC39A4 GRINA FOXH1 MIR6893 VPS28 CYC1 DGAT1 KIFC2 GPT WDR97 MIR661 SHARPIN SCRT1 PPP1R16A TONSL-AS1 PLEC MIR6846
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	OPLAH MIR6847 GPAA1 SPATC1 PARP10 EXOSC4 MAF1 SMPD5 GRINA CYC1 WDR97 SHARPIN PLEC MIR6846
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	OPLAH MIR6847 GPAA1 SPATC1 PARP10 EXOSC4 MAF1 SMPD5 GRINA CYC1 WDR97 MIR661 SHARPIN EPPK1 PLEC MIR6846
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	OPLAH MIR7112 MROH1 MIR6847 GPAA1 SPATC1 HGH1 EXOSC4 MAF1 SMPD5 BOP1 CYC1 SCX WDR97 SHARPIN HSF1 MIR6846
esv29971	Chr.8:144068526 - 144172197 on Build GRCh38	Loss	MROH1 MIR6847 GPAA1 WDR97 HGH1 EXOSC4 SHARPIN MAF1 CYC1
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	OPLAH MROH1 MIR6847 GPAA1 SPATC1 HGH1 EXOSC4 MAF1 SMPD5 CYC1 WDR97 SHARPIN MIR6846
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	OPLAH MIR7112 MFSD3 MIR6848 PARP10 HGH1 TONSL RECQL4 TMEM249 ADCK5 SMPD5 BOP1 SCX MIR1234 LOC101928902 MIR6849 LOC101928953 FBXL6 MIR939 CPSF1 HSF1 LRRC14 MROH1 MIR6847 GPAA1 SPATC1 EXOSC4 SLC52A2 MAF1 CYHR1 SLC39A4 GRINA FOXH1 MIR6893 VPS28 CYC1 DGAT1 KIFC2 GPT WDR97 MIR661 SHARPIN SCRT1 PPP1R16A TONSL-AS1 PLEC MIR6846
nsv6447	Chr.8:144064665 - 144087389 on Build GRCh38	Insertion	MIR6847 GPAA1 EXOSC4
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	OPLAH MROH1 MIR6847 GPAA1 SPATC1 PARP10 HGH1 EXOSC4 MAF1 SMPD5 GRINA CYC1 WDR97 MIR661 SHARPIN EPPK1 PLEC MIR6846
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	OPLAH MIR6847 GPAA1 SPATC1 PARP10 EXOSC4 MAF1 SMPD5 GRINA CYC1 WDR97 MIR661 SHARPIN PLEC MIR6846
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	OPLAH MIR6847 GPAA1 MIR661 SPATC1 PARP10 EXOSC4 SMPD5 GRINA CYC1 PLEC MIR6846
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	OPLAH MIR7112 MFSD3 MIR6848 HGH1 TONSL RECQL4 TMEM249 ADCK5 SMPD5 BOP1 SCX MIR1234 LOC101928902 MIR6849 ARHGAP39 ZNF251 LOC101928953 FBXL6 C8orf82 MIR939 CPSF1 HSF1 LRRC14 MROH1 MIR6847 GPAA1 SPATC1 EXOSC4 SLC52A2 MAF1 CYHR1 SLC39A4 FOXH1 MIR6893 VPS28 CYC1 LRRC24 DGAT1 KIFC2 GPT WDR97 SHARPIN SCRT1 PPP1R16A TONSL-AS1 MIR6846
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	OPLAH MIR6847 GPAA1 MIR661 SPATC1 PARP10 EXOSC4 SMPD5 GRINA CYC1 PLEC MIR6846

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