Hs00767521_cn

• Gene Symbol: COL5A1
• Assay Reference Genome Location: Chr.9:134842170 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 1289
• Gene Name: collagen type V alpha 1
• Gene Aliases: EDSC
• Location: Chr.9:134641790-134844843 on Build GRCh38
• Assay Gene Location: Overlaps Intron 67 - Exon 68

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COL5A1	NM_000093.4			NP_000084.3
	NM_001278074.1			NP_001265003.1
	AB209864.1			BAD93101.1
	AB371583.1
	AK127662.1
	BC008760.2			AAH08760.3
	BM051019.1
	CN399198.1
	D90279.1			BAA14323.1

Target Gene Details

• Entrez Gene ID: 101448202
• Gene Name: uncharacterized LOC101448202
• Gene Aliases: -
• Location: Chr.9:134819415-134872618 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101448202	NR_103451.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2739138	Chr.9:132727483 - 135521553 on Build GRCh38	Deletion	GBGT1 SNORD36A MED22 LOC101448202 C9orf62 AK8 TMEM8C LOC401557 DBH-AS1 OBP2B GFI1B MIR548AW OLFM1 WDR5 LOC101928193 MIR3689D2 MIR6877 RALGDS CEL MIR3689B SURF2 PPP1R26-AS1 REXO4 RPL7A SLC2A6 COL5A1-AS1 MIR3689C CACFD1 RNU6ATAC MRPS2 ADAMTS13 MIR3689F FAM163B ADAMTSL2 TSC1 C9orf116 FCN1 VAV2 CELP SURF6 LOC101928525 SARDH MIR3689E PPP1R26 BRD3 SNORD141A STKLD1 LOC105376306 COL5A1 LOC100130548 SPACA9 SURF1 RXRA FCN2 ABO LOC100996574 MIR4669 DBH LCN1 SURF4 GTF3C5 MIR3689D1 SNORD36C MIR3689A SNORD24 LINC00094 SNORD36B
nsv1043726	Chr.9:134566621 - 135388584 on Build GRCh38	Gain	FCN1 COL5A1-AS1 FCN2 LOC101448202 C9orf62 MIR3689E LOC401557 MIR3689C OLFM1 MIR3689D1 MIR3689D2 MIR3689F MIR3689B MIR3689A COL5A1

More Information

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

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

blood vessel development
heart morphogenesis
cell adhesion
cell migration
extracellular matrix organization
collagen fibril organization
collagen catabolic process
collagen biosynthetic process
wound healing, spreading of epidermal cells
tendon development
extracellular fibril organization
skin development
integrin biosynthetic process
eye morphogenesis
regulation of cellular component organization
negative regulation of endodermal cell differentiation

Function(s)

integrin binding
extracellular matrix structural constituent
heparin binding
proteoglycan binding
metal ion binding
platelet-derived growth factor binding