Hs00482969_cn

• Gene Symbol: PDLIM3
• Assay Reference Genome Location: Chr.4:185514329 on build GRCh38
• Cytoband: 4q35.1

Target Gene Details

• Entrez Gene ID: 27295
• Gene Name: PDZ and LIM domain 3
• Gene Aliases: ALP
• Location: Chr.4:185500660-185535606 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDLIM3	NM_001114107.4			NP_001107579.1
	NM_001257962.1			NP_001244891.1
	NM_001257963.1			NP_001244892.1
	NM_014476.5			NP_055291.2
	NR_047562.1
	AF002280.1			AAC16670.1
	AF002282.1			AAC16672.1
	AF039018.1			AAB96665.1
	AK129863.1
	AK222966.1			BAD96686.1
	AK313253.1
	BC027870.1			AAH27870.1
	BI913867.1
	BT007341.1			AAP36005.1
	BX647263.1	1	3389
	C03422.1
	DA898089.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv596373	Chr.4:185451672 - 185605031 on Build GRCh38	Gain	PDLIM3 CCDC110 SORBS2 LOC105377590
dgv5493n100	Chr.4:185446588 - 185605031 on Build GRCh38	Gain	PDLIM3 CCDC110 C4orf47 SORBS2 LOC105377590
esv3603504	Chr.4:185498199 - 185517654 on Build GRCh38	Gain	PDLIM3
esv3603496	Chr.4:185447616 - 185603060 on Build GRCh38	Gain	PDLIM3 CCDC110 C4orf47 SORBS2 LOC105377590
nsv517035	Chr.4:185445161 - 185600889 on Build GRCh38	Gain+Loss	PDLIM3 CCDC110 C4orf47 SORBS2 LOC105377590
nsv527026	Chr.4:185404275 - 185632326 on Build GRCh38	Gain	PDLIM3 CCDC110 UFSP2 C4orf47 SORBS2 LOC105377590
nsv508339	Chr.4:185501498 - 185533923 on Build GRCh38	Deletion	PDLIM3
esv2759309	Chr.4:185391971 - 185553542 on Build GRCh38	Loss	LRP2BP PDLIM3 CCDC110 UFSP2 C4orf47 ANKRD37 LOC105377590
nsv1029738	Chr.4:185450051 - 185515559 on Build GRCh38	Gain	PDLIM3 CCDC110 LOC105377590
nsv4639	Chr.4:185485731 - 185524173 on Build GRCh38	Deletion	PDLIM3

More Information

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

Panther Classification:

Molecular Function -

actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

actin filament organization
heart development

Function(s)

protein binding
cytoskeletal protein binding
zinc ion binding
structural constituent of muscle