Hs02513512_cn

• Gene Symbol: PDP1
• Assay Reference Genome Location: Chr.8:93925995 on build GRCh38
• Cytoband: 8q22.1

Target Gene Details

• Entrez Gene ID: 54704
• Gene Name: pyruvate dehyrogenase phosphatase catalytic subunit 1
• Gene Aliases: PDH, PDP, PDPC, PPM2A, PPM2C
• Location: Chr.8:93916855-93926068 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDP1	NM_001161779.1	3	4287	NP_001155251.1
	NM_001161780.1	3	4161	NP_001155252.1
	NM_001161781.1	2	4148	NP_001155253.1
	NM_018444.3	2	4205	NP_060914.2
	XM_011517135.2	3	4058	XP_011515437.1
	XM_011517136.1	3	4165	XP_011515438.1
	XM_017013587.1	2	4220	XP_016869076.1
	XM_017013588.1	3	4128	XP_016869077.1
	AK126862.1	1	4582
	BM973633.1	1	90
	BX099681.1	1	440

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1022473	Chr.8:91854892 - 94250166 on Build GRCh38	Loss	RUNX1T1 CDH17 RBM12B-AS1 MIR8084 RBM12B TRIQK LOC102724710 PDP1 LOC105375640 TMEM67 MIR378D2 GEM C8orf87 FAM92A1 LINC00535 FLJ46284

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protein phosphatase

Gene Ontology Categories:

Process(es)

regulation of acetyl-CoA biosynthetic process from pyruvate
peptidyl-threonine dephosphorylation

Function(s)

magnesium ion binding
protein serine/threonine phosphatase activity
magnesium-dependent protein serine/threonine phosphatase activity
[pyruvate dehydrogenase (lipoamide)] phosphatase activity
calcium ion binding
protein binding
protein complex binding