Hs05424939_cn

• Gene Symbol: PDILT
• Assay Reference Genome Location: Chr.16:20371592 on build GRCh38
• Cytoband: 16p12.3

Target Gene Details

• Entrez Gene ID: 204474
• Gene Name: protein disulfide isomerase like, testis expressed
• Gene Aliases: PDIA7
• Location: Chr.16:20359170-20404742 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDILT	NM_174924.1			NP_777584.1
	XM_011545764.1			XP_011544066.1
	XM_011545765.1			XP_011544067.1
	XM_011545766.2			XP_011544068.1
	AK097476.1			BAC05068.1
	BC042607.1			AAH42607.1
	BC044936.1			AAH44936.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv2795n100	Chr.16:20325210 - 20411678 on Build GRCh38	Gain	ACSM5 UMOD PDILT GP2
dgv4942n54	Chr.16:20340615 - 20466152 on Build GRCh38	Gain	ACSM5 UMOD ACSM2A PDILT
nsv436835	Chr.16:18930652 - 21500976 on Build GRCh38	Insertion	ACSM5 GPRC5B UMOD LOC100190986 ITPRIPL2 LOC81691 SMG1P3 PDILT IQCK NPIPB3 GP2 SYT17 CRYM C16orf62 ACSM2A GPR139 ZP2 ACSM3 LOC102723385 TMC7 TMC5 ERI2 CCP110 THUMPD1 SNX29P1 COQ7 CRYM-AS1 LYRM1 TMEM159 ANKS4B CLEC19A ACSM1 KNOP1 DCUN1D3 DNAH3 ACSM2B GDE1
nsv1759	Chr.16:20339264 - 20373446 on Build GRCh38	Insertion	UMOD PDILT
esv3638138	Chr.16:20348867 - 20489664 on Build GRCh38	Gain	ACSM5 UMOD ACSM2A PDILT

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein folding
multicellular organism development
spermatid development
cell migration
response to endoplasmic reticulum stress
cell redox homeostasis

Function(s)

protein disulfide isomerase activity