Gene Page:BBS1

Summary?
GeneID 582
Symbol BBS1
Synonyms BBS2L2
Description Bardet-Biedl syndrome 1
Reference MIM:209901|HGNC:HGNC:966|Ensembl:ENSG00000174483|Ensembl:ENSG00000256349|HPRD:01950|Vega:OTTHUMG00000167110Vega:OTTHUMG00000167719
Gene type protein-coding
Map location 11q13
Pascal p-value 0.004
Sherlock p-value 0.302
Fetal beta -0.267
DMG 1 (# studies)
eGene Frontal Cortex BA9
元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 1

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg04006266 11 66300458 BBS1 1.284E-4 0.371 0.03 DMG: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
死神:胎儿(13 - 26conception 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
Gene Pearson's Correlation Spearman's Correlation
PRKAG1 0.78 0.73
ADPGK 0.78 0.80
TFG 0.78 0.80
AZI2 0.78 0.79
WDR61 0.77 0.73
BPGM 0.77 0.78
CAPZB 0.76 0.76
POLR2C 0.76 0.73
PSMA1 0.76 0.75
GMPR2 0.76 0.75
Top 10 negatively co-expressed genes
Gene Pearson'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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0005515 protein binding 新闻学会 17574030|18000879
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0035058 sensory cilium biogenesis IMP neuron (GO term level: 10) 17980398
GO:0001895 retina homeostasis IMP 17980398
GO:0050896 response to stimulus IEA -
GO:0045494 photoreceptor cell maintenance IMP 17980398
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0034464 BBSome IDA 17574030

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
SOTIRIOU BREAST CANCER GRADE 1 VS 3 DN 52 34 All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335 193 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537 339 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 1 UP 121 71 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229 142 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330 217 All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330 215 All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 11Q12 Q14 AMPLICON 158 93 All SZGR 2.0 genes in this pathway
MATZUK SPERMATOZOA 114 77 All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718 401 All SZGR 2.0 genes in this pathway
MIKKELSEN NPC ICP WITH H3K4ME3 445 257 All SZGR 2.0 genes in this pathway