Hs01799730_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144505044 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2	4	631	NP_005300.1
	XM_011516993.2	5	1321	XP_011515295.1
	AK225562.1	4	631
	AK298488.1	4	589
	AK303779.1	3	691
	BC018207.1	5	565	AAH18207.1
	BT006992.1	4	408	AAP35638.1
	D10355.1	4	399	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	GPT PLEC SCRT1 CYC1 MIR7112 LOC101928902 SCX MAF1 OPLAH MIR6847 MIR6848 CYHR1 TMEM249 PPP1R16A ADCK5 FBXL6 MFSD3 TONSL TONSL-AS1 EXOSC4 MROH1 WDR97 CPSF1 MIR661 MIR1234 SLC39A4 MIR6846 VPS28 HSF1 MIR939 SPATC1 HGH1 FOXH1 MIR6893 LOC101928953 LRRC14 SHARPIN SMPD5 BOP1 PARP10 GPAA1 GRINA KIFC2 RECQL4 SLC52A2 DGAT1 MIR6849
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	PPP1R16A GPT LRRC24 MFSD3 RECQL4 LOC101928953 LRRC14 C8orf82 ARHGAP39
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	GPT LOC101928902 CYHR1 TMEM249 PPP1R16A ADCK5 FBXL6 MFSD3 TONSL TONSL-AS1 CPSF1 MIR1234 SLC39A4 VPS28 MIR939 LRRC24 FOXH1 MIR6893 LOC101928953 LRRC14 KIFC2 RECQL4 SLC52A2 C8orf82 MIR6849 ARHGAP39
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	PPP1R16A GPT LRRC24 MFSD3 RECQL4 LOC101928953 LRRC14 C8orf82 ARHGAP39
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	PPP1R16A GPT LRRC24 MFSD3 KIFC2 RECQL4 TONSL TONSL-AS1 FOXH1 LOC101928953 LRRC14 CYHR1
nsv612962	Chr.8:144504742 - 144511458 on Build GRCh38	Loss	GPT MFSD3 RECQL4 LOC101928953
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	VPS28 GPT LRRC24 FOXH1 MIR6893 LOC101928953 LRRC14 CYHR1 PPP1R16A MFSD3 KIFC2 RECQL4 TONSL TONSL-AS1 SLC39A4
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	PPP1R16A GPT MFSD3 RECQL4 LOC101928953
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	GPT SCRT1 LOC101928902 MIR6848 CYHR1 TMEM249 PPP1R16A ADCK5 FBXL6 MFSD3 TONSL TONSL-AS1 CPSF1 MIR1234 SLC39A4 VPS28 HSF1 MIR939 FOXH1 MIR6893 LOC101928953 BOP1 KIFC2 RECQL4 SLC52A2 DGAT1 MIR6849
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	GPT MFSD3 RECQL4 LOC101928953 LRRC14
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	GPT PLEC SCRT1 CYC1 MIR7112 LOC101928902 SCX MAF1 OPLAH MIR6847 MIR6848 CYHR1 TMEM249 PPP1R16A ADCK5 FBXL6 MFSD3 TONSL TONSL-AS1 EXOSC4 MROH1 WDR97 CPSF1 MIR661 MIR1234 SLC39A4 MIR6846 VPS28 HSF1 MIR939 SPATC1 HGH1 FOXH1 MIR6893 LOC101928953 LRRC14 SHARPIN SMPD5 BOP1 PARP10 GPAA1 GRINA KIFC2 RECQL4 SLC52A2 DGAT1 MIR6849
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	GPT LRRC24 FOXH1 LOC101928953 LRRC14 CYHR1 PPP1R16A MFSD3 KIFC2 RECQL4 TONSL TONSL-AS1 C8orf82 ARHGAP39
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	GPT SCRT1 CYC1 MIR7112 LOC101928902 SCX MAF1 OPLAH MIR6847 MIR6848 CYHR1 TMEM249 PPP1R16A ADCK5 FBXL6 MFSD3 TONSL TONSL-AS1 EXOSC4 MROH1 WDR97 CPSF1 MIR1234 SLC39A4 MIR6846 VPS28 HSF1 MIR939 LRRC24 SPATC1 HGH1 FOXH1 MIR6893 LOC101928953 LRRC14 SHARPIN SMPD5 BOP1 GPAA1 ZNF251 KIFC2 RECQL4 SLC52A2 C8orf82 DGAT1 MIR6849 ARHGAP39
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	PPP1R16A GPT LRRC24 MFSD3 KIFC2 RECQL4 FOXH1 LOC101928953 LRRC14 CYHR1

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