Hs04688002_cn

• Gene Symbol: FBLN7
• Assay Reference Genome Location: Chr.2:112147949 on build GRCh38
• Cytoband: 2q13

Target Gene Details

• Entrez Gene ID: 129804
• Gene Name: fibulin 7
• Gene Aliases: TM14
• Location: Chr.2:112138385-112254888 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FBLN7	NM_001128165.1			NP_001121637.1
	NM_153214.2			NP_694946.2
	XM_006712260.3			XP_006712323.1
	XM_011510585.2			XP_011508887.1
	XM_011510587.2			XP_011508889.1
	XM_017003317.1			XP_016858806.1
	XM_017003318.1			XP_016858807.1
	XM_017003319.1			XP_016858808.1
	AK094759.1			BAC04416.1
	BC035784.1
	BC126986.1
	BC126987.1
	DA201691.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv582699	Chr.2:110763166 - 112172487 on Build GRCh38	Loss	LOC400997 ANAPC1 PAFAH1B1P2 MIR4771-2 FBLN7 MIR4435-2HG TMEM87B MERTK ACOXL BCL2L11 MIR4435-2
nsv521956	Chr.2:110634682 - 112341235 on Build GRCh38	Loss	SNORD132 BUB1 LOC400997 PAFAH1B1P2 FBLN7 ACOXL MIR4435-2 ZC3H6 ANAPC1 MIR4771-2 MIR4435-2HG TMEM87B MERTK ZC3H8 BCL2L11
dgv4047n100	Chr.2:110308696 - 112358403 on Build GRCh38	Loss	SNORD132 BUB1 LOC400997 LINC01106 LOC105375809 PAFAH1B1P2 LOC105373553 FBLN7 RGPD6 ACOXL MIR4435-2 ZC3H6 LIMS4 ANAPC1 MIR4771-2 MIR4435-2HG TMEM87B MERTK ZC3H8 BCL2L11 LOC100288570

More Information

Additional Information:

For this assay, SNP(s) [rs114940202] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

cell adhesion

Function(s)

calcium ion binding
heparin binding