Hs01942816_cn

• Gene Symbol: BBS7
• Assay Reference Genome Location: Chr.4:121825873 on build GRCh38
• Cytoband: 4q27

Target Gene Details

• Entrez Gene ID: 55212
• Gene Name: Bardet-Biedl syndrome 7
• Gene Aliases: BBS2L1
• Location: Chr.4:121824329-121870520 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBS7	NM_176824.2	19	2319	NP_789794.1
	XM_005263106.3	19	2345	XP_005263163.1
	XM_011532079.2	19	2390	XP_011530381.1
	XM_011532080.2	19	2387	XP_011530382.1
	XM_011532081.2	18	2225	XP_011530383.1
	XM_017008357.1	18	2177	XP_016863846.1
	XM_017008358.1	17	4332	XP_016863847.1
	AF521644.1	19	2283	AAO16026.1
	AK308076.1	19	2308

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv997539	Chr.4:121622949 - 122353111 on Build GRCh38	Gain	TRPC3 EXOSC9 TMEM155 KIAA1109 ANXA5 PP12613 BBS7 CCNA2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

eye development
heart looping
regulation of transcription from RNA polymerase II promoter
smoothened signaling pathway
determination of left/right symmetry
brain development
visual perception
protein localization
protein transport
melanosome transport
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
nonmotile primary cilium assembly
cilium assembly
fat cell differentiation
intracellular transport
digestive tract morphogenesis
pigment granule aggregation in cell center
palate development
limb development
cilium morphogenesis

Function(s)

RNA polymerase II repressing transcription factor binding
protein binding