Gene Name	BBS7
Gene ID	55212
Gene Full Name	Bardet-Biedl syndrome 7
Gene Alias	BBS2L1
Transcripts	ENSG00000138686
Virus	HBV
Gene Type	protein-coding
HPA Location Info
Membrane Info	Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Uniport_ID	Q8IWZ6
HGNC ID	HGNC:18758
OMIM ID	607590
Summary	This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
1007408	chr4	27	0	0	27	View
1013556	chr4	3	2	0	5	View
1013778	chr4	3	1	0	4	View
1013779	chr4	3	1	0	4	View
1017338	chr4	0	1	0	1	View
1019713	chr4	0	0	0	0	View
1020712	chr4	3	1	0	4	View
1020713	chr4	27	0	0	27	View
1020714	chr4	3	1	0	4	View
1042881	chr4	32	0	0	32	View
1042882	chr4	4	2	0	6	View

Data ID	Experiment type	Sample number	Platform
GSE236281	RNA-seq	12	Illumina MiSeq (Homo sapiens)
C   GSE68402	Chip-seq	26	Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens)
TCGA_LIHC_HBV	DNA methylation sequencing;RNA-seq	97	TCGA
C   GSE270130	Chip-seq	27	Illumina NovaSeq 6000 (Homo sapiens)
GSE224901	RNA-seq	21	Illumina NovaSeq 6000 (Homo sapiens)
GSE100400	Chip-seq;RNA-seq;4C_cccDNA	31	Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus)
GSE173897	RNA-seq	95	Illumina HiSeq 4000 (Homo sapiens)
GSE262515	RNA-seq	21	Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus)
GSE110345	RNA-seq	4	Illumina HiSeq 2500 (Homo sapiens)
GSE131257	ATAC-seq;RNA-seq	19	Illumina HiSeq 2500 (Homo sapiens)
GSE94660	RNA-seq	42	Illumina HiSeq 2500 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE68402 - BBS7 peak across samples

Peak Plot

> Dataset: GSE270130 - BBS7 peak across samples

Peak Plot