Hs01353640_cn

• Gene Symbol: PCOLCE
• Assay Reference Genome Location: Chr.7:100604078 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: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCOLCE	NM_002593.3	3	522	NP_002584.2
	AB008549.1	3	380	BAA23281.1
	AK298364.1	3	380
	AK313748.1	3	418
	BC000574.2	3	415	AAH00574.1
	BC033205.1	3	360	AAH33205.1
	BI837971.1	3	522
	L33799.1	3	384	AAA61949.1

Target Gene Details

• Entrez Gene ID: 100129845
• Gene Name: PCOLCE antisense RNA 1
• Gene Aliases: -
• Location: Chr.7:100589401-100604038 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCOLCE-AS1	NR_038910.1
	AK097705.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2659884	Chr.7:100600622 - 100605969 on Build GRCh38	Deletion	PCOLCE FBXO24 PCOLCE-AS1
esv2734888	Chr.7:99975623 - 101290285 on Build GRCh38	Deletion	PILRA STAG3 ACTL6B ACHE VGF MOSPD3 ZCWPW1 PMS2P1 LRCH4 MEPCE MIR6840 PCOLCE-AS1 NYAP1 COPS6 ZSCAN21 CLDN15 SRRT MUC12 STAG3L5P-PVRIG2P-PILRB LAMTOR4 SLC12A9 TFR2 MIR25 TSC22D4 AP1S1 PLOD3 MIR93 CNPY4 PCOLCE SPDYE3 PILRB FBXO24 AP4M1 EPO STAG3L5P PVRIG2P SAP25 LOC105375429 MOGAT3 ZAN MUC3A GAL3ST4 AZGP1 ZASP ZNF3 TRIP6 GPC2 PPP1R35 EPHB4 MIR106B GNB2 LOC102724094 FIS1 AZGP1P1 NAT16 MIR4653 TRIM56 AGFG2 C7orf61 MBLAC1 SERPINE1 C7orf43 ZKSCAN1 TAF6 MIR6875 PVRIG MIR4658 POP7 GIGYF1 GATS ZNHIT1 MCM7 MUC17 UFSP1
nsv951386	Chr.7:100566478 - 100682977 on Build GRCh38	Deletion	PCOLCE FBXO24 PCOLCE-AS1 ACTL6B AGFG2 SAP25 LOC105375429 MOSPD3 TFR2 ZASP GIGYF1 LRCH4 GNB2
nsv831072	Chr.7:100564880 - 100765212 on Build GRCh38	Loss	PCOLCE FBXO24 PCOLCE-AS1 EPO ACTL6B AGFG2 SAP25 LOC105375429 MOSPD3 ZAN TFR2 ZASP POP7 GIGYF1 LRCH4 GNB2
nsv5868	Chr.7:100572375 - 100617023 on Build GRCh38	Deletion	PCOLCE MOSPD3 FBXO24 PCOLCE-AS1 ZASP LRCH4 SAP25

More Information

• Set Membership: Intragenic, Exonic, 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