Hs01551538_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144504775 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 Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2			NP_005300.1
	XM_011516993.2			XP_011515295.1
	AK225562.1
	AK298488.1
	AK303779.1
	BC018207.1			AAH18207.1
	BP275218.1
	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	DGAT1 ADCK5 OPLAH HSF1 GPT KIFC2 PPP1R16A MIR939 MROH1 MIR6849 VPS28 CPSF1 FBXL6 SCRT1 CYHR1 CYC1 MIR661 BOP1 PLEC HGH1 TONSL-AS1 LOC101928902 MIR6846 SLC39A4 MIR6848 SHARPIN MFSD3 EXOSC4 LRRC14 MIR6893 SCX LOC101928953 TONSL MIR6847 SMPD5 MIR1234 MAF1 SPATC1 WDR97 GRINA TMEM249 PARP10 SLC52A2 GPAA1 MIR7112 FOXH1 RECQL4
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	MFSD3 LRRC14 GPT LRRC24 LOC101928953 PPP1R16A RECQL4 C8orf82 ARHGAP39
esv3619130	Chr.8:144500159 - 144504908 on Build GRCh38	Gain	GPT LOC101928953 PPP1R16A
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	ADCK5 GPT KIFC2 PPP1R16A MIR939 C8orf82 ARHGAP39 MIR6849 VPS28 CPSF1 FBXL6 CYHR1 TONSL-AS1 LOC101928902 LRRC24 SLC39A4 MFSD3 LRRC14 MIR6893 LOC101928953 TONSL MIR1234 TMEM249 SLC52A2 FOXH1 RECQL4
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	MFSD3 LRRC14 GPT LRRC24 LOC101928953 PPP1R16A RECQL4 C8orf82 ARHGAP39
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	CYHR1 MFSD3 LRRC14 TONSL-AS1 GPT KIFC2 LRRC24 LOC101928953 PPP1R16A FOXH1 TONSL RECQL4
nsv612962	Chr.8:144504742 - 144511458 on Build GRCh38	Loss	MFSD3 GPT LOC101928953 RECQL4
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	MFSD3 LRRC14 MIR6893 GPT KIFC2 LOC101928953 PPP1R16A TONSL VPS28 CYHR1 TONSL-AS1 LRRC24 SLC39A4 FOXH1 RECQL4
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	MFSD3 GPT LOC101928953 PPP1R16A RECQL4
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	DGAT1 ADCK5 HSF1 GPT KIFC2 PPP1R16A MIR939 MIR6849 VPS28 CPSF1 FBXL6 SCRT1 CYHR1 BOP1 TONSL-AS1 LOC101928902 SLC39A4 MIR6848 MFSD3 MIR6893 LOC101928953 TONSL MIR1234 TMEM249 SLC52A2 FOXH1 RECQL4
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	MFSD3 LRRC14 GPT LOC101928953 RECQL4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	DGAT1 ADCK5 OPLAH HSF1 GPT KIFC2 PPP1R16A MIR939 MROH1 MIR6849 VPS28 CPSF1 FBXL6 SCRT1 CYHR1 CYC1 MIR661 BOP1 PLEC HGH1 TONSL-AS1 LOC101928902 MIR6846 SLC39A4 MIR6848 SHARPIN MFSD3 EXOSC4 LRRC14 MIR6893 SCX LOC101928953 TONSL MIR6847 SMPD5 MIR1234 MAF1 SPATC1 WDR97 GRINA TMEM249 PARP10 SLC52A2 GPAA1 MIR7112 FOXH1 RECQL4
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	MFSD3 LRRC14 GPT KIFC2 LOC101928953 PPP1R16A TONSL C8orf82 ARHGAP39 CYHR1 TONSL-AS1 LRRC24 FOXH1 RECQL4
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	DGAT1 ADCK5 OPLAH HSF1 GPT KIFC2 PPP1R16A MIR939 MROH1 C8orf82 ARHGAP39 MIR6849 VPS28 CPSF1 FBXL6 SCRT1 CYHR1 CYC1 BOP1 HGH1 TONSL-AS1 LOC101928902 LRRC24 MIR6846 SLC39A4 MIR6848 SHARPIN MFSD3 EXOSC4 LRRC14 MIR6893 SCX LOC101928953 ZNF251 TONSL MIR6847 SMPD5 MIR1234 MAF1 SPATC1 WDR97 TMEM249 SLC52A2 GPAA1 MIR7112 FOXH1 RECQL4
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	CYHR1 MFSD3 LRRC14 GPT KIFC2 LRRC24 LOC101928953 PPP1R16A FOXH1 RECQL4

More Information

• Set Membership: Intragenic, Non-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