Hs02117116_cn

• Gene Symbol: FBN1
• Assay Reference Genome Location: Chr.15:48425771 on build GRCh38
• Cytoband: 15q21.1

Target Gene Details

• Entrez Gene ID: 2200
• Gene Name: fibrillin 1
• Gene Aliases: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
• Location: Chr.15:48408306-48645788 on Build GRCh38
• Assay Gene Location: Overlaps Intron 59 - Exon 59

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FBN1	NM_000138.4			NP_000129.3
	AB208840.1			BAD92077.1
	BC146854.1
	L13923.1			AAB02036.1
	X63556.1			CAA45118.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1047597	Chr.15:48345836 - 48456074 on Build GRCh38	Gain	FBN1

More Information

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

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

skeletal system development
metanephros development
heart development
extracellular matrix disassembly
extracellular matrix organization
sequestering of BMP in extracellular matrix
sequestering of TGFbeta in extracellular matrix
camera-type eye development
embryonic eye morphogenesis
post-embryonic eye morphogenesis
cellular response to transforming growth factor beta stimulus
regulation of cellular response to growth factor stimulus
cellular response to insulin-like growth factor stimulus

Function(s)

integrin binding
hormone activity
extracellular matrix structural constituent
calcium ion binding
protein binding
extracellular matrix constituent conferring elasticity
protein complex binding