Hs03531265_cn

• Gene Symbol: PDLIM3
• Assay Reference Genome Location: Chr.4:185522056 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: Within Intron 3

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
	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	SORBS2 LOC105377590 CCDC110 PDLIM3
esv2430031	Chr.4:185519759 - 185523453 on Build GRCh38	Deletion	PDLIM3
esv3603496	Chr.4:185447616 - 185603060 on Build GRCh38	Gain	SORBS2 LOC105377590 C4orf47 CCDC110 PDLIM3
nsv508339	Chr.4:185501498 - 185533923 on Build GRCh38	Deletion	PDLIM3
esv2759309	Chr.4:185391971 - 185553542 on Build GRCh38	Loss	LOC105377590 C4orf47 CCDC110 ANKRD37 LRP2BP UFSP2 PDLIM3
nsv511267	Chr.4:185519206 - 185526416 on Build GRCh38	Loss	PDLIM3
dgv5493n100	Chr.4:185446588 - 185605031 on Build GRCh38	Gain	SORBS2 LOC105377590 C4orf47 CCDC110 PDLIM3
esv2068423	Chr.4:185520294 - 185523110 on Build GRCh38	Deletion	PDLIM3
esv28251	Chr.4:185520474 - 185522930 on Build GRCh38	Gain	PDLIM3
nsv821047	Chr.4:185520430 - 185522930 on Build GRCh38	Deletion	PDLIM3
nsv1149972	Chr.4:185520454 - 185522933 on Build GRCh38	Deletion	PDLIM3
esv9232	Chr.4:185520224 - 185523167 on Build GRCh38	Loss	PDLIM3
esv3603505	Chr.4:185520478 - 185522921 on Build GRCh38	Loss	PDLIM3
dgv159n73	Chr.4:185520347 - 185522946 on Build GRCh38	Deletion	PDLIM3
nsv10624	Chr.4:185520117 - 185523367 on Build GRCh38	Gain	PDLIM3
nsv596382	Chr.4:185520705 - 185527215 on Build GRCh38	Loss	PDLIM3
nsv596375	Chr.4:185519679 - 185522869 on Build GRCh38	Gain+Loss	PDLIM3
nsv1111817	Chr.4:185519346 - 185523546 on Build GRCh38	Deletion	PDLIM3
nsv517035	Chr.4:185445161 - 185600889 on Build GRCh38	Gain+Loss	SORBS2 LOC105377590 C4orf47 CCDC110 PDLIM3
nsv527026	Chr.4:185404275 - 185632326 on Build GRCh38	Gain	SORBS2 LOC105377590 C4orf47 CCDC110 UFSP2 PDLIM3
nsv499814	Chr.4:185520481 - 185522922 on Build GRCh38	Loss	PDLIM3
esv3296495	Chr.4:185520483 - 185522921 on Build GRCh38	Deletion	PDLIM3
nsv513187	Chr.4:185520364 - 185523052 on Build GRCh38	Loss	PDLIM3
nsv1135630	Chr.4:185520443 - 185522919 on Build GRCh38	Deletion	PDLIM3
nsv1072470	Chr.4:185520445 - 185522946 on Build GRCh38	Deletion	PDLIM3
esv3565187	Chr.4:185520378 - 185522949 on Build GRCh38	Deletion	PDLIM3
dgv134e180	Chr.4:185520457 - 185523493 on Build GRCh38	Deletion	PDLIM3
nsv596374	Chr.4:185515495 - 185524265 on Build GRCh38	Gain	PDLIM3
nsv4639	Chr.4:185485731 - 185524173 on Build GRCh38	Deletion	PDLIM3

More Information

• Set Membership: Intragenic, Intronic, 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