Gene Page: BBS1

Summary ?
GeneID582
SymbolBBS1
SynonymsBBS2L2
DescriptionBardet-Biedl syndrome 1
ReferenceMIM:209901|HGNC:HGNC:966|Ensembl:ENSG00000174483|Ensembl:ENSG00000256349|HPRD:01950|Vega:OTTHUMG00000167110Vega:OTTHUMG00000167719
Gene typeprotein-coding
Map location11q13
Pascal p-value0.004
Sherlock p-value0.302
Fetal beta-0.267
DMG1 (# studies)
eGeneFrontal Cortex BA9
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg040062661166300458BBS11.284E-40.3710.03DMG:Wockner_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
PRKAG10.780.73
ADPGK0.780.80
TFG0.780.80
AZI20.780.79
WDR610.770.73
BPGM0.770.78
CAPZB0.760.76
POLR2C0.760.73
PSMA10.760.75
GMPR20.760.75
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-CYB-0.62-0.61
AF347015.2-0.61-0.60
AF347015.8-0.61-0.62
MT-CO2-0.61-0.60
AF347015.31-0.60-0.61
AF347015.21-0.58-0.59
AF347015.27-0.58-0.62
AF347015.18-0.58-0.64
AF347015.15-0.58-0.59
AF347015.26-0.57-0.60

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI17574030 |18000879 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0035058sensory cilium biogenesisIMPneuron (GO term level: 10)17980398 
GO:0001895retina homeostasisIMP17980398 
GO:0050896response to stimulusIEA-
GO:0045494photoreceptor cell maintenanceIMP17980398 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0034464BBSomeIDA17574030 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
SOTIRIOU BREAST CANCER GRADE 1 VS 3 DN 5234All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335193All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 1 UP 12171All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229142All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330217All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330215All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 11Q12 Q14 AMPLICON 15893All SZGR 2.0 genes in this pathway
MATZUK SPERMATOZOA 11477All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718401All SZGR 2.0 genes in this pathway
MIKKELSEN NPC ICP WITH H3K4ME3 445257All SZGR 2.0 genes in this pathway