Hs01364734_cn

• Gene Symbol: PLOD3
• Assay Reference Genome Location: Chr.7:101217793 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 8985
• Gene Name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
• Gene Aliases: LH3
• Location: Chr.7:101205977-101217730 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLOD3	NM_001084.4			NP_001075.1
	AK297559.1
	BF941815.1

Target Gene Details

• Entrez Gene ID: 10467
• Gene Name: zinc finger HIT-type containing 1
• Gene Aliases: CG1I, ZNFN4A1
• Location: Chr.7:101217704-101224191 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNHIT1	NM_006349.2	1	90	NP_006340.1
	BC017333.2	1	90	AAH17333.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3614321	Chr.7:101210074 - 101222993 on Build GRCh38	Gain	PLOD3 ZNHIT1
dgv11534n54	Chr.7:101160859 - 101238359 on Build GRCh38	Loss	NAT16 AP1S1 PLOD3 VGF CLDN15 ZNHIT1 MOGAT3
nsv607973	Chr.7:101139179 - 101230554 on Build GRCh38	Loss	NAT16 AP1S1 PLOD3 MIR4653 VGF SERPINE1 ZNHIT1 MOGAT3
nsv1018841	Chr.7:101117129 - 101225018 on Build GRCh38	Gain	NAT16 AP1S1 PLOD3 MIR4653 VGF SERPINE1 ZNHIT1 MOGAT3
esv2422376	Chr.7:101100204 - 101373190 on Build GRCh38	Duplication	NAT16 AP1S1 PLOD3 COL26A1 LOC101927746 VGF IFT22 MIR4653 CLDN15 SERPINE1 FIS1 LOC101927721 ZNHIT1 MOGAT3
esv2422326	Chr.7:101190168 - 101356850 on Build GRCh38	Duplication	IFT22 PLOD3 LOC101927746 CLDN15 FIS1 LOC101927721 ZNHIT1 MOGAT3
nsv1030604	Chr.7:101074451 - 101580185 on Build GRCh38	Gain	NAT16 AP1S1 PLOD3 TRIM56 COL26A1 LOC101927746 VGF IFT22 MIR4653 CLDN15 SERPINE1 FIS1 LOC101927721 LINC01007 ZNHIT1 MOGAT3
esv2752134	Chr.7:101156850 - 101498586 on Build GRCh38	Gain	NAT16 AP1S1 PLOD3 COL26A1 LOC101927746 VGF IFT22 MIR4653 CLDN15 FIS1 LOC101927721 ZNHIT1 MOGAT3
esv2734888	Chr.7:99975623 - 101290285 on Build GRCh38	Deletion	TFR2 VGF MIR4658 ZNF3 MIR6875 UFSP1 PVRIG TRIP6 MUC17 EPHB4 FIS1 ZNHIT1 MEPCE FBXO24 NAT16 AP1S1 C7orf43 SAP25 STAG3 ACHE PILRB MBLAC1 LRCH4 POP7 SERPINE1 ACTL6B AZGP1 MIR6840 MIR25 ZASP PILRA PPP1R35 AZGP1P1 AP4M1 SPDYE3 STAG3L5P-PVRIG2P-PILRB PCOLCE-AS1 TSC22D4 NYAP1 SRRT PVRIG2P PMS2P1 LOC102724094 GATS CLDN15 MCM7 GIGYF1 ZCWPW1 ZKSCAN1 TAF6 EPO GPC2 ZAN CNPY4 LOC105375429 PLOD3 TRIM56 C7orf61 MIR93 MIR106B GAL3ST4 MUC3A MUC12 LAMTOR4 GNB2 COPS6 PCOLCE STAG3L5P MIR4653 AGFG2 SLC12A9 MOSPD3 MOGAT3 ZSCAN21
nsv831075	Chr.7:101049016 - 101273737 on Build GRCh38	Loss	NAT16 AP1S1 PLOD3 TRIM56 MIR4653 MUC17 VGF CLDN15 SERPINE1 FIS1 ZNHIT1 MOGAT3
nsv607974	Chr.7:101149529 - 101328323 on Build GRCh38	Loss	NAT16 AP1S1 IFT22 PLOD3 LOC101927746 MIR4653 VGF CLDN15 FIS1 LOC101927721 ZNHIT1 MOGAT3
esv3614319	Chr.7:101206795 - 101265542 on Build GRCh38	Gain	PLOD3 CLDN15 FIS1 ZNHIT1
nsv831076	Chr.7:101185566 - 101368393 on Build GRCh38	Loss	IFT22 PLOD3 COL26A1 LOC101927746 CLDN15 FIS1 LOC101927721 ZNHIT1 MOGAT3

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme, chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

in utero embryonic development
endothelial cell morphogenesis
protein localization
neural tube development
collagen fibril organization
cellular response to hormone stimulus
vasodilation
epidermis morphogenesis
oxidation-reduction process
lung morphogenesis
basement membrane assembly
regulation of histone deacetylation
histone exchange

Function(s)

iron ion binding
protein binding
procollagen-lysine 5-dioxygenase activity
L-ascorbic acid binding
procollagen glucosyltransferase activity
procollagen galactosyltransferase activity
nucleosome binding
histone deacetylase binding
metal ion binding