Hs02238454_cn

• Gene Symbol: GPAA1
• Assay Reference Genome Location: Chr.8:144084025 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 5 - Intron 5

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