Hs02387421_cn

• Gene Symbol: BBS1
• Assay Reference Genome Location: Chr.11:66530949 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 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBS1	NM_024649.4	15	1541	NP_078925.3
	AF503941.1	15	1541	AAM92770.1
	AK027243.1	3	238	BAB15704.1
	AK095638.1	14	1548
	AK294962.1	7	775
	AK296311.1	11	1256
	BC047642.1	14	1500	AAH47642.1
	BC109064.2	15	1534	AAI09065.1
	BC109065.1	12	1147	AAI09066.1
	BX647612.1	15	1570	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	RBM4 PELI3 RBM14 CTSF RBM4B ACTN3 CCS RBM14-RBM4 DPP3 BBS1 LOC101928069 ZDHHC24 CCDC87 SPTBN2

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