Hs01266115_cn

• Gene Symbol: BBS1
• Assay Reference Genome Location: Chr.11:66532944 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 582
• Gene Name: Bardet-Biedl syndrome 1
• Gene Aliases: BBS2L2
• Location: Chr.11:66510648-66533613 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBS1	NM_024649.4	17	2701	NP_078925.3
	AF503941.1	17	2701	AAM92770.1
	AK027243.1	5	1398	BAB15704.1
	AK095638.1	15	2916
	BC047642.1	16	2778	AAH47642.1
	BX647612.1	17	2730	CAI46060.1

Target Gene Details

• Entrez Gene ID: 254359
• Gene Name: zinc finger DHHC-type containing 24
• Gene Aliases: -
• Location: Chr.11:66520625-66546200 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZDHHC24	XM_005273874.3			XP_005273931.1
	XM_011544894.1			XP_011543196.1
	AK310561.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522277	Chr.11:66466552 - 66726354 on Build GRCh38	Loss	RBM4B CCDC87 ZDHHC24 RBM14-RBM4 BBS1 CCS ACTN3 CTSF DPP3 LOC101928069 RBM4 PELI3 SPTBN2 RBM14

More Information

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

Gene Ontology Categories:

Process(es)

retina homeostasis
visual perception
nonmotile primary cilium assembly
cilium assembly
Golgi to plasma membrane protein transport
photoreceptor cell maintenance
response to stimulus
protein localization to cilium

Function(s)

RNA polymerase II repressing transcription factor binding
patched binding
smoothened binding
protein binding
zinc ion binding
protein-cysteine S-palmitoyltransferase activity