Hs01207632_cn

• Gene Symbol: GPT
• Assay Reference Genome Location: Chr.8:144504403 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPT	NM_005309.2	1	322	NP_005300.1
	XM_011516993.2	2	1012	XP_011515295.1
	AK225562.1	1	322
	AK298488.1	1	280
	AK303779.1	1	264
	BC018207.1	2	256	AAH18207.1
	BP275218.1	1	322
	BT006992.1	1	99	AAP35638.1
	D10355.1	1	90	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	LOC101928902 HGH1 MAF1 TONSL SMPD5 LRRC14 BOP1 KIFC2 MIR6846 CPSF1 HSF1 CYC1 PLEC SCRT1 MIR6893 MIR7112 DGAT1 TONSL-AS1 VPS28 MIR6849 MIR6847 SPATC1 SLC52A2 TMEM249 MIR1234 CYHR1 GPAA1 MIR939 MIR6848 GRINA FOXH1 MIR661 SLC39A4 RECQL4 EXOSC4 WDR97 PARP10 MROH1 LOC101928953 OPLAH GPT SHARPIN PPP1R16A SCX ADCK5 MFSD3 FBXL6
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	RECQL4 LOC101928953 GPT LRRC24 ARHGAP39 LRRC14 PPP1R16A C8orf82 MFSD3
esv3619130	Chr.8:144500159 - 144504908 on Build GRCh38	Gain	LOC101928953 GPT PPP1R16A
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	LOC101928902 TONSL LRRC24 LRRC14 KIFC2 CPSF1 MIR6893 TONSL-AS1 VPS28 MIR6849 C8orf82 SLC52A2 TMEM249 MIR1234 CYHR1 MIR939 ARHGAP39 FOXH1 SLC39A4 RECQL4 LOC101928953 GPT PPP1R16A ADCK5 MFSD3 FBXL6
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	RECQL4 LOC101928953 GPT LRRC24 ARHGAP39 LRRC14 PPP1R16A C8orf82 MFSD3
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	RECQL4 CYHR1 TONSL LOC101928953 GPT LRRC24 LRRC14 TONSL-AS1 KIFC2 PPP1R16A FOXH1 MFSD3
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	CYHR1 TONSL LRRC24 LRRC14 KIFC2 FOXH1 SLC39A4 RECQL4 MIR6893 LOC101928953 GPT TONSL-AS1 VPS28 PPP1R16A MFSD3
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	RECQL4 LOC101928953 GPT PPP1R16A MFSD3
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	LOC101928902 TONSL BOP1 KIFC2 CPSF1 HSF1 SCRT1 MIR6893 DGAT1 TONSL-AS1 VPS28 MIR6849 SLC52A2 TMEM249 MIR1234 CYHR1 MIR939 MIR6848 FOXH1 SLC39A4 RECQL4 LOC101928953 GPT PPP1R16A ADCK5 MFSD3 FBXL6
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	RECQL4 LOC101928953 GPT LRRC14 MFSD3
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	LOC101928902 HGH1 MAF1 TONSL SMPD5 LRRC14 BOP1 KIFC2 MIR6846 CPSF1 HSF1 CYC1 PLEC SCRT1 MIR6893 MIR7112 DGAT1 TONSL-AS1 VPS28 MIR6849 MIR6847 SPATC1 SLC52A2 TMEM249 MIR1234 CYHR1 GPAA1 MIR939 MIR6848 GRINA FOXH1 MIR661 SLC39A4 RECQL4 EXOSC4 WDR97 PARP10 MROH1 LOC101928953 OPLAH GPT SHARPIN PPP1R16A SCX ADCK5 MFSD3 FBXL6
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	CYHR1 TONSL LRRC24 ARHGAP39 LRRC14 KIFC2 FOXH1 RECQL4 LOC101928953 GPT TONSL-AS1 PPP1R16A C8orf82 MFSD3
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	LOC101928902 HGH1 MAF1 TONSL LRRC24 SMPD5 LRRC14 BOP1 KIFC2 MIR6846 CPSF1 HSF1 CYC1 SCRT1 MIR6893 ZNF251 MIR7112 DGAT1 TONSL-AS1 VPS28 MIR6849 C8orf82 MIR6847 SPATC1 SLC52A2 TMEM249 MIR1234 CYHR1 GPAA1 MIR939 MIR6848 ARHGAP39 FOXH1 SLC39A4 RECQL4 EXOSC4 WDR97 MROH1 LOC101928953 OPLAH GPT SHARPIN PPP1R16A SCX ADCK5 MFSD3 FBXL6
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	RECQL4 CYHR1 LOC101928953 GPT LRRC24 LRRC14 KIFC2 PPP1R16A FOXH1 MFSD3

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