Hs02397273_cn

• Gene Symbol: COL18A1
• Assay Reference Genome Location: Chr.21:45419926 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 80781
• Gene Name: collagen type XVIII alpha 1 chain
• Gene Aliases: KNO, KNO1, KS
• Location: Chr.21:45405137-45513720 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COL18A1	NM_130445.3			NP_569712.2
	AF018082.1			AAC39659.1
	AK130835.1
	BC063833.1			AAH63833.1
	CN389577.1

Target Gene Details

• Entrez Gene ID: 378832
• Gene Name: COL18A1 antisense RNA 1
• Gene Aliases: C21orf123, NCRNA00175, PRED80
• Location: Chr.21:45419716-45425070 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COL18A1-AS1	NR_027498.1	3	2131
	NR_028082.1	3	3215
	AK096071.1	3	2131	BAC04694.1
	BC111539.2	3	3215	AAI11540.1
	BC111540.2	3	2101	AAI11541.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516407	Chr.21:45410958 - 45620742 on Build GRCh38	Loss	COL18A1-AS1 SLC19A1 MIR6815 LOC105372840 COL18A1
esv2762114	Chr.21:45260287 - 45647830 on Build GRCh38	Gain	LINC00205 POFUT2 LOC642852 LINC00316 COL18A1-AS1 SLC19A1 MIR6815 COL18A1-AS2 LOC105372840 LOC107985476 COL18A1
nsv953653	Chr.21:45409686 - 45560386 on Build GRCh38	Deletion	COL18A1-AS1 SLC19A1 MIR6815 COL18A1-AS2 COL18A1
nsv1057607	Chr.21:45333418 - 45463244 on Build GRCh38	Gain	LINC00316 COL18A1-AS1 COL18A1-AS2 COL18A1
dgv4436n100	Chr.21:45402338 - 45556768 on Build GRCh38	Gain	COL18A1-AS1 SLC19A1 MIR6815 COL18A1-AS2 COL18A1
dgv7899n54	Chr.21:45160455 - 45419989 on Build GRCh38	Gain	LINC00205 POFUT2 LOC642852 LINC00334 LINC00316 COL18A1-AS1 COL18A1-AS2 ADARB1 LOC107985476 COL18A1
nsv470909	Chr.21:45300095 - 45428674 on Build GRCh38	Gain	LINC00316 COL18A1-AS1 COL18A1-AS2 COL18A1

More Information

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

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

angiogenesis
endothelial cell morphogenesis
cell adhesion
visual perception
positive regulation of cell proliferation
negative regulation of cell proliferation
organ morphogenesis
extracellular matrix organization
positive regulation of cell migration
collagen catabolic process
response to drug
response to hydrostatic pressure
positive regulation of endothelial cell apoptotic process

Function(s)

structural molecule activity
metal ion binding