Hs02965842_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144507101 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 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2	11	1815	NP_005300.1
	XM_011516993.2	12	2505	XP_011515295.1
	AI283141.1	1	82
	AK225562.1
	BC018207.1	12	1749	AAH18207.1
	D10355.1	11	1583	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	MIR6847 LOC101928902 WDR97 SPATC1 LRRC14 KIFC2 MIR6849 MIR1234 SHARPIN MFSD3 MIR6848 SLC39A4 TMEM249 RECQL4 GPAA1 MIR939 VPS28 ADCK5 SCX EXOSC4 MIR661 MIR6846 GPT HSF1 DGAT1 SMPD5 OPLAH SCRT1 TONSL GRINA MIR6893 CPSF1 FOXH1 PLEC CYHR1 TONSL-AS1 PPP1R16A SLC52A2 MAF1 BOP1 MIR7112 LOC101928953 HGH1 PARP10 MROH1 FBXL6 CYC1
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	RECQL4 LRRC24 ARHGAP39 C8orf82 LRRC14 GPT LOC101928953 MFSD3 PPP1R16A
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	LOC101928902 LRRC14 KIFC2 MIR6849 MIR1234 MFSD3 SLC39A4 TMEM249 RECQL4 MIR939 VPS28 ADCK5 ARHGAP39 GPT TONSL C8orf82 MIR6893 CPSF1 FOXH1 CYHR1 TONSL-AS1 PPP1R16A SLC52A2 LRRC24 LOC101928953 FBXL6
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	RECQL4 LRRC24 ARHGAP39 C8orf82 LRRC14 GPT LOC101928953 MFSD3 PPP1R16A
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	RECQL4 LRRC24 TONSL LRRC14 GPT FOXH1 KIFC2 LOC101928953 CYHR1 TONSL-AS1 MFSD3 PPP1R16A
nsv612962	Chr.8:144504742 - 144511458 on Build GRCh38	Loss	RECQL4 GPT LOC101928953 MFSD3
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	TONSL LRRC14 MIR6893 FOXH1 KIFC2 CYHR1 TONSL-AS1 MFSD3 PPP1R16A SLC39A4 RECQL4 LRRC24 VPS28 GPT LOC101928953
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	RECQL4 GPT LOC101928953 MFSD3 PPP1R16A
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	LOC101928902 KIFC2 MIR6849 MIR1234 MFSD3 MIR6848 SLC39A4 TMEM249 RECQL4 MIR939 VPS28 ADCK5 GPT HSF1 DGAT1 SCRT1 TONSL MIR6893 CPSF1 FOXH1 CYHR1 TONSL-AS1 PPP1R16A SLC52A2 BOP1 LOC101928953 FBXL6
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	RECQL4 LRRC14 GPT LOC101928953 MFSD3
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR6847 LOC101928902 WDR97 SPATC1 LRRC14 KIFC2 MIR6849 MIR1234 SHARPIN MFSD3 MIR6848 SLC39A4 TMEM249 RECQL4 GPAA1 MIR939 VPS28 ADCK5 SCX EXOSC4 MIR661 MIR6846 GPT HSF1 DGAT1 SMPD5 OPLAH SCRT1 TONSL GRINA MIR6893 CPSF1 FOXH1 PLEC CYHR1 TONSL-AS1 PPP1R16A SLC52A2 MAF1 BOP1 MIR7112 LOC101928953 HGH1 PARP10 MROH1 FBXL6 CYC1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	TONSL C8orf82 LRRC14 FOXH1 KIFC2 CYHR1 TONSL-AS1 MFSD3 PPP1R16A RECQL4 LRRC24 ARHGAP39 GPT LOC101928953
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR6847 LOC101928902 WDR97 ZNF251 SPATC1 LRRC14 KIFC2 MIR6849 MIR1234 SHARPIN MFSD3 MIR6848 SLC39A4 TMEM249 RECQL4 GPAA1 MIR939 VPS28 ADCK5 SCX EXOSC4 ARHGAP39 MIR6846 GPT HSF1 DGAT1 SMPD5 OPLAH SCRT1 TONSL C8orf82 MIR6893 CPSF1 FOXH1 CYHR1 TONSL-AS1 PPP1R16A SLC52A2 MAF1 BOP1 MIR7112 LRRC24 LOC101928953 HGH1 MROH1 FBXL6 CYC1
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	RECQL4 LRRC24 LRRC14 GPT FOXH1 KIFC2 LOC101928953 CYHR1 MFSD3 PPP1R16A

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