Hs02974469_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144506514 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 9 - Exon 10

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
	BC018207.1			AAH18207.1
	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	CYHR1 LOC101928902 MIR939 EXOSC4 BOP1 MROH1 SLC39A4 ADCK5 VPS28 TONSL SPATC1 GPT FBXL6 TONSL-AS1 RECQL4 PLEC SHARPIN MIR7112 MFSD3 CPSF1 SCX MIR6893 LRRC14 CYC1 HSF1 MIR6848 MAF1 OPLAH MIR661 SMPD5 HGH1 KIFC2 SLC52A2 WDR97 MIR6849 PPP1R16A MIR6847 DGAT1 TMEM249 GPAA1 GRINA LOC101928953 MIR6846 MIR1234 PARP10 SCRT1 FOXH1
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	LRRC24 RECQL4 PPP1R16A MFSD3 C8orf82 LOC101928953 ARHGAP39 LRRC14 GPT
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	CYHR1 LOC101928902 MIR939 SLC39A4 ARHGAP39 ADCK5 VPS28 TONSL GPT FBXL6 TONSL-AS1 RECQL4 MFSD3 CPSF1 MIR6893 LRRC14 LRRC24 KIFC2 SLC52A2 MIR6849 PPP1R16A C8orf82 TMEM249 LOC101928953 MIR1234 FOXH1
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	LRRC24 RECQL4 PPP1R16A MFSD3 C8orf82 LOC101928953 ARHGAP39 LRRC14 GPT
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	TONSL-AS1 KIFC2 LRRC24 CYHR1 RECQL4 PPP1R16A MFSD3 LOC101928953 LRRC14 TONSL GPT FOXH1
nsv612962	Chr.8:144504742 - 144511458 on Build GRCh38	Loss	RECQL4 MFSD3 LOC101928953 GPT
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	LRRC24 CYHR1 SLC39A4 VPS28 TONSL GPT TONSL-AS1 KIFC2 RECQL4 PPP1R16A MFSD3 MIR6893 LOC101928953 LRRC14 FOXH1
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	RECQL4 PPP1R16A MFSD3 LOC101928953 GPT
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	CYHR1 LOC101928902 MIR939 BOP1 SLC39A4 ADCK5 VPS28 TONSL GPT FBXL6 TONSL-AS1 RECQL4 MFSD3 CPSF1 MIR6893 HSF1 MIR6848 KIFC2 SLC52A2 MIR6849 PPP1R16A DGAT1 TMEM249 LOC101928953 MIR1234 SCRT1 FOXH1
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	RECQL4 MFSD3 LOC101928953 LRRC14 GPT
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	CYHR1 LOC101928902 MIR939 EXOSC4 BOP1 MROH1 SLC39A4 ADCK5 VPS28 TONSL SPATC1 GPT FBXL6 TONSL-AS1 RECQL4 PLEC SHARPIN MIR7112 MFSD3 CPSF1 SCX MIR6893 LRRC14 CYC1 HSF1 MIR6848 MAF1 OPLAH MIR661 SMPD5 HGH1 KIFC2 SLC52A2 WDR97 MIR6849 PPP1R16A MIR6847 DGAT1 TMEM249 GPAA1 GRINA LOC101928953 MIR6846 MIR1234 PARP10 SCRT1 FOXH1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	LRRC24 CYHR1 ARHGAP39 TONSL GPT TONSL-AS1 KIFC2 RECQL4 PPP1R16A MFSD3 C8orf82 LOC101928953 LRRC14 FOXH1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	CYHR1 LOC101928902 MIR939 EXOSC4 BOP1 MROH1 SLC39A4 ARHGAP39 ADCK5 VPS28 TONSL SPATC1 GPT FBXL6 TONSL-AS1 ZNF251 RECQL4 SHARPIN MIR7112 MFSD3 CPSF1 SCX MIR6893 LRRC14 CYC1 LRRC24 HSF1 MIR6848 MAF1 OPLAH SMPD5 HGH1 KIFC2 SLC52A2 WDR97 MIR6849 PPP1R16A MIR6847 DGAT1 C8orf82 TMEM249 GPAA1 LOC101928953 MIR6846 MIR1234 SCRT1 FOXH1
nsv824810	Chr.8:144506129 - 144506886 on Build GRCh38	Loss	GPT
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	KIFC2 LRRC24 CYHR1 RECQL4 PPP1R16A MFSD3 LOC101928953 LRRC14 GPT FOXH1

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