Hs01478837_cn

• Gene Symbol: PDIA3
• Assay Reference Genome Location: Chr.15:43771997 on build GRCh38
• Cytoband: 15q15.3

Target Gene Details

• Entrez Gene ID: 2923
• Gene Name: protein disulfide isomerase family A member 3
• Gene Aliases: ER60, ERp57, ERp60, ERp61, GRP57, GRP58, HEL-S-269, HEL-S-93n, HsT17083, P58, PI-PLC
• Location: Chr.15:43746392-43772606 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDIA3	NM_005313.4	13	2445	NP_005304.3
	BE644608.1	1	470

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1036318	Chr.15:43761419 - 43868575 on Build GRCh38	Gain	ELL3 SERINC4 MFAP1 SERF2-C15ORF63 MIR1282 WDR76 SERF2 PDIA3 HYPK
esv2760028	Chr.15:43530960 - 43856443 on Build GRCh38	Gain+Loss	CKMT1A ELL3 SERINC4 SERF2-C15ORF63 CATSPER2P1 PPIP5K1 CKMT1B PDIA3 CATSPER2 MFAP1 MAP1A MIR1282 STRC WDR76 SERF2 HYPK STRCP1
esv33661	Chr.15:43724321 - 43772222 on Build GRCh38	Loss	CATSPER2P1 PDIA3

More Information

Additional Information:

For this assay, SNP(s) [rs77115059] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

antigen processing and presentation of peptide antigen via MHC class I
protein folding
proteolysis
protein import into nucleus
protein retention in ER lumen
signal transduction
protein folding in endoplasmic reticulum
response to endoplasmic reticulum stress
cell redox homeostasis
oxidation-reduction process
positive regulation of extrinsic apoptotic signaling pathway

Function(s)

protein disulfide isomerase activity
cysteine-type endopeptidase activity
phospholipase C activity
protein binding
disulfide oxidoreductase activity
poly(A) RNA binding