Hs00368186_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144505881 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 6 - Exon 7

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

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