Hs01810973_cn

• Gene Symbol: PCOLCE
• Assay Reference Genome Location: Chr.7:100607955 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 5118
• Gene Name: procollagen C-endopeptidase enhancer
• Gene Aliases: PCPE, PCPE-1, PCPE1
• Location: Chr.7:100602259-100608175 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCOLCE	NM_002593.3			NP_002584.2
	AB008549.1			BAA23281.1
	AK313748.1
	BC000574.2			AAH00574.1
	BC033205.1			AAH33205.1
	L33799.1			AAA61949.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2734888	Chr.7:99975623 - 101290285 on Build GRCh38	Deletion	SRRT ZASP PCOLCE-AS1 C7orf61 ZCWPW1 POP7 AP4M1 PILRA SERPINE1 MCM7 ZKSCAN1 CLDN15 GAL3ST4 SAP25 MIR106B VGF LRCH4 SLC12A9 ZSCAN21 AZGP1 TFR2 LAMTOR4 COPS6 PLOD3 PCOLCE NAT16 ACHE SPDYE3 MOSPD3 EPHB4 TRIP6 GNB2 MBLAC1 C7orf43 MOGAT3 STAG3L5P MUC17 TSC22D4 AZGP1P1 ZAN MUC3A STAG3 FIS1 AP1S1 PVRIG ZNHIT1 MIR93 EPO GIGYF1 LOC105375429 PPP1R35 ACTL6B FBXO24 UFSP1 TRIM56 ZNF3 PMS2P1 MEPCE PVRIG2P PILRB AGFG2 MIR6840 TAF6 MIR4658 MIR6875 STAG3L5P-PVRIG2P-PILRB LOC102724094 NYAP1 GPC2 MUC12 MIR25 GATS CNPY4 MIR4653
nsv951386	Chr.7:100566478 - 100682977 on Build GRCh38	Deletion	PCOLCE ZASP PCOLCE-AS1 MOSPD3 AGFG2 GNB2 GIGYF1 LOC105375429 SAP25 LRCH4 ACTL6B FBXO24 TFR2
nsv831072	Chr.7:100564880 - 100765212 on Build GRCh38	Loss	ZAN PCOLCE ZASP PCOLCE-AS1 MOSPD3 POP7 AGFG2 GNB2 EPO GIGYF1 LOC105375429 SAP25 LRCH4 ACTL6B FBXO24 TFR2
nsv5868	Chr.7:100572375 - 100617023 on Build GRCh38	Deletion	PCOLCE ZASP PCOLCE-AS1 SAP25 LRCH4 MOSPD3 FBXO24

More Information

Additional Information:

For this assay, SNP(s) [rs114747798] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis
multicellular organism development
positive regulation of peptidase activity

Function(s)

protein binding
collagen binding
heparin binding
peptidase activator activity