Hs00910569_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144506861 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 2875
• Gene Name: glutamic--pyruvic transaminase
• Gene Aliases: AAT1, ALT1, GPT1
• Location: Chr.8:144502217-144507174 on Build GRCh38
• Assay Gene Location: Overlaps Exon 11 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2			NP_005300.1
	XM_011516993.2			XP_011515295.1
	AI283141.1	1	322
	AK225562.1
	BC018207.1			AAH18207.1
	BT006992.1			AAP35638.1
	D10355.1			BAA01186.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	GRINA MIR6849 MIR6893 MIR7112 MROH1 SCRT1 FOXH1 LOC101928902 MFSD3 MIR1234 TMEM249 EXOSC4 TONSL CYHR1 FBXL6 RECQL4 MIR939 PARP10 SMPD5 GPAA1 MIR6848 CYC1 TONSL-AS1 BOP1 HGH1 MIR6846 SHARPIN SCX ADCK5 HSF1 MIR6847 LOC101928953 VPS28 GPT SPATC1 OPLAH CPSF1 MAF1 PPP1R16A LRRC14 PLEC MIR661 KIFC2 WDR97 SLC52A2 SLC39A4 DGAT1
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	LOC101928953 MFSD3 C8orf82 GPT LRRC24 ARHGAP39 PPP1R16A LRRC14 RECQL4
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	MIR6849 MIR6893 FOXH1 LOC101928902 MFSD3 MIR1234 TMEM249 TONSL CYHR1 FBXL6 RECQL4 MIR939 TONSL-AS1 C8orf82 ADCK5 LOC101928953 VPS28 GPT LRRC24 CPSF1 PPP1R16A LRRC14 KIFC2 ARHGAP39 SLC52A2 SLC39A4
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	LOC101928953 MFSD3 C8orf82 GPT LRRC24 ARHGAP39 PPP1R16A LRRC14 RECQL4
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	LOC101928953 TONSL-AS1 FOXH1 MFSD3 KIFC2 GPT LRRC24 TONSL CYHR1 PPP1R16A LRRC14 RECQL4
nsv612962	Chr.8:144504742 - 144511458 on Build GRCh38	Loss	LOC101928953 MFSD3 GPT RECQL4
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	MIR6893 LOC101928953 FOXH1 MFSD3 VPS28 GPT LRRC24 TONSL CYHR1 PPP1R16A LRRC14 RECQL4 TONSL-AS1 KIFC2 SLC39A4
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	LOC101928953 MFSD3 GPT PPP1R16A RECQL4
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	MIR6849 MIR6893 SCRT1 FOXH1 LOC101928902 MFSD3 MIR1234 TMEM249 TONSL CYHR1 FBXL6 RECQL4 MIR939 MIR6848 TONSL-AS1 BOP1 ADCK5 HSF1 LOC101928953 VPS28 GPT CPSF1 PPP1R16A KIFC2 SLC52A2 SLC39A4 DGAT1
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	LOC101928953 MFSD3 GPT LRRC14 RECQL4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	GRINA MIR6849 MIR6893 MIR7112 MROH1 SCRT1 FOXH1 LOC101928902 MFSD3 MIR1234 TMEM249 EXOSC4 TONSL CYHR1 FBXL6 RECQL4 MIR939 PARP10 SMPD5 GPAA1 MIR6848 CYC1 TONSL-AS1 BOP1 HGH1 MIR6846 SHARPIN SCX ADCK5 HSF1 MIR6847 LOC101928953 VPS28 GPT SPATC1 OPLAH CPSF1 MAF1 PPP1R16A LRRC14 PLEC MIR661 KIFC2 WDR97 SLC52A2 SLC39A4 DGAT1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	LOC101928953 FOXH1 MFSD3 GPT LRRC24 TONSL CYHR1 PPP1R16A LRRC14 RECQL4 TONSL-AS1 KIFC2 C8orf82 ARHGAP39
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR6849 MIR6893 MIR7112 MROH1 SCRT1 FOXH1 LOC101928902 MFSD3 MIR1234 TMEM249 EXOSC4 TONSL CYHR1 FBXL6 RECQL4 MIR939 SMPD5 GPAA1 MIR6848 CYC1 TONSL-AS1 C8orf82 BOP1 HGH1 ZNF251 MIR6846 SHARPIN SCX ADCK5 HSF1 MIR6847 LOC101928953 VPS28 GPT SPATC1 LRRC24 OPLAH CPSF1 MAF1 PPP1R16A LRRC14 KIFC2 WDR97 ARHGAP39 SLC52A2 SLC39A4 DGAT1
nsv824810	Chr.8:144506129 - 144506886 on Build GRCh38	Loss	GPT
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	LOC101928953 FOXH1 MFSD3 KIFC2 GPT LRRC24 CYHR1 PPP1R16A LRRC14 RECQL4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transaminase

Gene Ontology Categories:

Process(es)

cellular amino acid biosynthetic process
L-alanine catabolic process

Function(s)

L-alanine:2-oxoglutarate aminotransferase activity
pyridoxal phosphate binding