Hs00235133_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144506297 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 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2	8	1245	NP_005300.1
	XM_011516993.2	9	1935	XP_011515295.1
	AK225562.1	8	1245
	AK298488.1	6	1370
	BC018207.1	9	1179	AAH18207.1
	BT006992.1	8	1022	AAP35638.1
	D10355.1	8	1013	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	HSF1 WDR97 SHARPIN CYC1 DGAT1 SLC52A2 LOC101928902 SLC39A4 VPS28 KIFC2 TMEM249 GPT MIR6893 PLEC SCX OPLAH MIR661 ADCK5 BOP1 TONSL-AS1 FBXL6 MIR6849 SCRT1 EXOSC4 MAF1 SMPD5 MROH1 RECQL4 MIR939 CYHR1 GPAA1 LOC101928953 SPATC1 GRINA TONSL MIR1234 MIR6847 LRRC14 MIR7112 MIR6848 MFSD3 PPP1R16A PARP10 HGH1 MIR6846 CPSF1 FOXH1
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	LRRC24 LRRC14 RECQL4 MFSD3 PPP1R16A GPT LOC101928953 C8orf82 ARHGAP39
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	LRRC24 SLC52A2 LOC101928902 SLC39A4 VPS28 KIFC2 TMEM249 GPT MIR6893 C8orf82 ADCK5 TONSL-AS1 FBXL6 MIR6849 RECQL4 MIR939 CYHR1 LOC101928953 TONSL MIR1234 LRRC14 MFSD3 PPP1R16A ARHGAP39 CPSF1 FOXH1
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	LRRC24 LRRC14 RECQL4 MFSD3 PPP1R16A GPT LOC101928953 C8orf82 ARHGAP39
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	LRRC24 TONSL LRRC14 RECQL4 MFSD3 KIFC2 PPP1R16A GPT TONSL-AS1 CYHR1 LOC101928953 FOXH1
nsv612962	Chr.8:144504742 - 144511458 on Build GRCh38	Loss	RECQL4 MFSD3 GPT LOC101928953
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	LRRC24 SLC39A4 VPS28 RECQL4 KIFC2 GPT MIR6893 CYHR1 LOC101928953 TONSL LRRC14 MFSD3 PPP1R16A TONSL-AS1 FOXH1
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	RECQL4 MFSD3 PPP1R16A GPT LOC101928953
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	HSF1 DGAT1 SLC52A2 LOC101928902 SLC39A4 VPS28 KIFC2 TMEM249 GPT MIR6893 ADCK5 BOP1 TONSL-AS1 FBXL6 MIR6849 SCRT1 RECQL4 MIR939 CYHR1 LOC101928953 TONSL MIR1234 MIR6848 MFSD3 PPP1R16A CPSF1 FOXH1
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	LRRC14 RECQL4 MFSD3 GPT LOC101928953
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	HSF1 WDR97 SHARPIN CYC1 DGAT1 SLC52A2 LOC101928902 SLC39A4 VPS28 KIFC2 TMEM249 GPT MIR6893 PLEC SCX OPLAH MIR661 ADCK5 BOP1 TONSL-AS1 FBXL6 MIR6849 SCRT1 EXOSC4 MAF1 SMPD5 MROH1 RECQL4 MIR939 CYHR1 GPAA1 LOC101928953 SPATC1 GRINA TONSL MIR1234 MIR6847 LRRC14 MIR7112 MIR6848 MFSD3 PPP1R16A PARP10 HGH1 MIR6846 CPSF1 FOXH1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	LRRC24 RECQL4 KIFC2 GPT CYHR1 LOC101928953 C8orf82 TONSL LRRC14 MFSD3 PPP1R16A TONSL-AS1 ARHGAP39 FOXH1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	HSF1 LRRC24 WDR97 SHARPIN CYC1 DGAT1 SLC52A2 LOC101928902 SLC39A4 VPS28 KIFC2 TMEM249 GPT MIR6893 C8orf82 SCX OPLAH ADCK5 ZNF251 BOP1 TONSL-AS1 FBXL6 MIR6849 SCRT1 EXOSC4 MAF1 SMPD5 MROH1 RECQL4 MIR939 CYHR1 GPAA1 LOC101928953 SPATC1 TONSL MIR1234 MIR6847 LRRC14 MIR7112 MIR6848 MFSD3 PPP1R16A HGH1 MIR6846 ARHGAP39 CPSF1 FOXH1
nsv824810	Chr.8:144506129 - 144506886 on Build GRCh38	Loss	GPT
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	LRRC24 LRRC14 RECQL4 MFSD3 KIFC2 PPP1R16A GPT CYHR1 LOC101928953 FOXH1

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