Hs00599506_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144505326 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2	5	799	NP_005300.1
	XM_011516993.2	6	1489	XP_011515295.1
	AK225562.1	5	799
	AK298488.1	5	757
	AK303779.1
	BC018207.1	6	733	AAH18207.1
	BT006992.1	5	576	AAP35638.1
	D10355.1	5	567	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 BOP1 LOC101928902 TONSL-AS1 SLC39A4 MIR1234 GPAA1 TMEM249 SPATC1 MIR939 DGAT1 GRINA EXOSC4 MAF1 SCRT1 MIR661 LOC101928953 WDR97 SMPD5 CPSF1 MIR6846 TONSL GPT PARP10 ADCK5 PPP1R16A CYHR1 OPLAH MIR6849 MIR6893 MFSD3 CYC1 FOXH1 MIR6848 MROH1 RECQL4 SHARPIN VPS28 KIFC2 HGH1 MIR7112 PLEC FBXL6 SCX SLC52A2 LRRC14 HSF1
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	LOC101928953 MFSD3 RECQL4 GPT C8orf82 PPP1R16A ARHGAP39 LRRC14 LRRC24
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	LOC101928902 TONSL-AS1 SLC39A4 MIR1234 TMEM249 MIR939 LOC101928953 CPSF1 TONSL GPT ADCK5 PPP1R16A CYHR1 MIR6849 MIR6893 MFSD3 FOXH1 RECQL4 VPS28 C8orf82 KIFC2 FBXL6 SLC52A2 ARHGAP39 LRRC14 LRRC24
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	LOC101928953 MFSD3 RECQL4 GPT C8orf82 PPP1R16A ARHGAP39 LRRC14 LRRC24
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	LOC101928953 MFSD3 FOXH1 RECQL4 TONSL GPT TONSL-AS1 KIFC2 PPP1R16A CYHR1 LRRC14 LRRC24
nsv612962	Chr.8:144504742 - 144511458 on Build GRCh38	Loss	LOC101928953 MFSD3 RECQL4 GPT
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	LOC101928953 TONSL GPT TONSL-AS1 SLC39A4 PPP1R16A CYHR1 MIR6893 MFSD3 FOXH1 RECQL4 VPS28 KIFC2 LRRC14 LRRC24
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	LOC101928953 MFSD3 RECQL4 GPT PPP1R16A
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	BOP1 LOC101928902 TONSL-AS1 SLC39A4 MIR1234 TMEM249 MIR939 DGAT1 SCRT1 LOC101928953 CPSF1 TONSL GPT ADCK5 PPP1R16A CYHR1 MIR6849 MIR6893 MFSD3 FOXH1 MIR6848 RECQL4 VPS28 KIFC2 FBXL6 SLC52A2 HSF1
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	LOC101928953 MFSD3 RECQL4 GPT LRRC14
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR6847 BOP1 LOC101928902 TONSL-AS1 SLC39A4 MIR1234 GPAA1 TMEM249 SPATC1 MIR939 DGAT1 GRINA EXOSC4 MAF1 SCRT1 MIR661 LOC101928953 WDR97 SMPD5 CPSF1 MIR6846 TONSL GPT PARP10 ADCK5 PPP1R16A CYHR1 OPLAH MIR6849 MIR6893 MFSD3 CYC1 FOXH1 MIR6848 MROH1 RECQL4 SHARPIN VPS28 KIFC2 HGH1 MIR7112 PLEC FBXL6 SCX SLC52A2 LRRC14 HSF1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	LOC101928953 TONSL GPT TONSL-AS1 PPP1R16A CYHR1 MFSD3 FOXH1 RECQL4 C8orf82 KIFC2 ARHGAP39 LRRC14 LRRC24
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR6847 BOP1 LOC101928902 TONSL-AS1 SLC39A4 MIR1234 GPAA1 TMEM249 SPATC1 MIR939 DGAT1 EXOSC4 MAF1 ZNF251 SCRT1 LOC101928953 WDR97 SMPD5 CPSF1 MIR6846 TONSL GPT ADCK5 PPP1R16A CYHR1 OPLAH MIR6849 MIR6893 MFSD3 CYC1 FOXH1 MIR6848 MROH1 RECQL4 SHARPIN VPS28 C8orf82 KIFC2 HGH1 MIR7112 FBXL6 SCX SLC52A2 ARHGAP39 LRRC14 HSF1 LRRC24
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	LOC101928953 MFSD3 FOXH1 RECQL4 GPT KIFC2 PPP1R16A CYHR1 LRRC14 LRRC24

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