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

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