Hs02345755_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144504174 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: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2	1	93	NP_005300.1
	XM_011516993.2			XP_011515295.1
	AK225562.1	1	93
	AK298488.1	1	51
	AK303779.1	1	35
	BC018207.1			AAH18207.1
	BP275218.1	1	93

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	TMEM249 MFSD3 PLEC HSF1 SPATC1 LOC101928953 PARP10 TONSL CYC1 MROH1 DGAT1 CPSF1 EXOSC4 MIR6849 PPP1R16A SMPD5 MIR1234 MIR661 SLC52A2 MIR7112 TONSL-AS1 HGH1 SLC39A4 ADCK5 MIR6846 MIR939 KIFC2 VPS28 OPLAH FOXH1 GPAA1 MIR6893 SHARPIN FBXL6 BOP1 MIR6848 CYHR1 MIR6847 LRRC14 WDR97 GRINA SCRT1 RECQL4 MAF1 LOC101928902 SCX GPT
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	LRRC14 RECQL4 MFSD3 PPP1R16A LOC101928953 ARHGAP39 LRRC24 C8orf82 GPT
esv3619130	Chr.8:144500159 - 144504908 on Build GRCh38	Gain	PPP1R16A LOC101928953 GPT
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	TMEM249 MFSD3 LOC101928953 TONSL C8orf82 CPSF1 MIR6849 PPP1R16A MIR1234 LRRC24 SLC52A2 TONSL-AS1 SLC39A4 ADCK5 MIR939 KIFC2 VPS28 FOXH1 MIR6893 FBXL6 CYHR1 LRRC14 RECQL4 ARHGAP39 LOC101928902 GPT
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	LRRC14 RECQL4 MFSD3 PPP1R16A LOC101928953 ARHGAP39 LRRC24 C8orf82 GPT
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	LRRC14 RECQL4 KIFC2 MFSD3 FOXH1 PPP1R16A LOC101928953 LRRC24 TONSL TONSL-AS1 CYHR1 GPT
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	KIFC2 MFSD3 VPS28 FOXH1 MIR6893 LOC101928953 TONSL CYHR1 LRRC14 RECQL4 PPP1R16A LRRC24 TONSL-AS1 GPT SLC39A4
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	RECQL4 MFSD3 PPP1R16A LOC101928953 GPT
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	TMEM249 MFSD3 HSF1 LOC101928953 TONSL DGAT1 CPSF1 MIR6849 PPP1R16A MIR1234 SLC52A2 TONSL-AS1 SLC39A4 ADCK5 MIR939 KIFC2 VPS28 FOXH1 MIR6893 FBXL6 BOP1 MIR6848 CYHR1 SCRT1 RECQL4 LOC101928902 GPT
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	LRRC14 RECQL4 MFSD3 LOC101928953 GPT
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	TMEM249 MFSD3 PLEC HSF1 SPATC1 LOC101928953 PARP10 TONSL CYC1 MROH1 DGAT1 CPSF1 EXOSC4 MIR6849 PPP1R16A SMPD5 MIR1234 MIR661 SLC52A2 MIR7112 TONSL-AS1 HGH1 SLC39A4 ADCK5 MIR6846 MIR939 KIFC2 VPS28 OPLAH FOXH1 GPAA1 MIR6893 SHARPIN FBXL6 BOP1 MIR6848 CYHR1 MIR6847 LRRC14 WDR97 GRINA SCRT1 RECQL4 MAF1 LOC101928902 SCX GPT
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	KIFC2 MFSD3 FOXH1 LOC101928953 TONSL C8orf82 CYHR1 LRRC14 RECQL4 PPP1R16A ARHGAP39 LRRC24 TONSL-AS1 GPT
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	TMEM249 MFSD3 HSF1 SPATC1 LOC101928953 TONSL CYC1 MROH1 C8orf82 DGAT1 CPSF1 EXOSC4 MIR6849 PPP1R16A SMPD5 MIR1234 LRRC24 SLC52A2 MIR7112 TONSL-AS1 HGH1 SLC39A4 ADCK5 MIR6846 MIR939 KIFC2 ZNF251 VPS28 OPLAH FOXH1 GPAA1 MIR6893 SHARPIN FBXL6 BOP1 MIR6848 CYHR1 MIR6847 LRRC14 WDR97 SCRT1 RECQL4 MAF1 ARHGAP39 LOC101928902 SCX GPT
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	LRRC14 RECQL4 KIFC2 MFSD3 FOXH1 PPP1R16A LOC101928953 LRRC24 CYHR1 GPT

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