Summary ?
GeneID79738
SymbolBBS10
SynonymsC12orf58
DescriptionBardet-Biedl syndrome 10
ReferenceMIM:610148|HGNC:HGNC:26291|Ensembl:ENSG00000179941|HPRD:08036|Vega:OTTHUMG00000147352
Gene typeprotein-coding
Map location12q21.2
Pascal p-value0.002
eGeneMeta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0005524ATP bindingIEA-
GO:0051082unfolded protein bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0035058sensory cilium biogenesisIMPneuron (GO term level: 10)17980398 
GO:0001895retina homeostasisIMP17980398 
GO:0006457protein foldingIEA-
GO:0050896response to stimulusIEA-
GO:0045494photoreceptor cell maintenanceIMP17980398 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
WILCOX RESPONSE TO PROGESTERONE UP 15290All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397206All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 2HR DN 5535All SZGR 2.0 genes in this pathway
ZWANG CLASS 1 TRANSIENTLY INDUCED BY EGF 516308All SZGR 2.0 genes in this pathway