Gene Page: BBS4

Summary ?
GeneID585
SymbolBBS4
Synonyms-
DescriptionBardet-Biedl syndrome 4
ReferenceMIM:600374|HGNC:HGNC:969|Ensembl:ENSG00000140463|HPRD:08982|Vega:OTTHUMG00000133510
Gene typeprotein-coding
Map location15q22.3-q23
Pascal p-value0.861
Sherlock p-value0.281
Fetal beta-0.393
eGeneCerebellar Hemisphere
Cerebellum
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs12594938chr1573071281BBS45850.06cis
rs10770856chr128705405BBS45850.12trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003777microtubule motor activityIMP15107855 
GO:0005515protein bindingIPI15107855 
GO:0034452dynactin bindingIDA15107855 
GO:0043014alpha-tubulin bindingIDA17574030 
GO:0048487beta-tubulin bindingIDA17574030 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0035058sensory cilium biogenesisIEAneuron (GO term level: 10)-
GO:0016358dendrite developmentIEAneurite, dendrite (GO term level: 11)-
GO:0000226microtubule cytoskeleton organizationIEA-
GO:0001895retina homeostasisIEA-
GO:0001843neural tube closureIEA-
GO:0007286spermatid developmentIEA-
GO:0007608sensory perception of smellIEA-
GO:0033365protein localization in organelleISS-
GO:0033205cytokinesis during cell cycleIMP15107855 
GO:0034454microtubule anchoring at centrosomeIMP15107855 
GO:0030534adult behaviorIEA-
GO:0050896response to stimulusIEA-
GO:0050893sensory processingTAS14520415 
GO:0019216regulation of lipid metabolic processIEA-
GO:0051297centrosome organizationIMP15107855 
GO:0032465regulation of cytokinesisIMP15107855 
GO:0045724positive regulation of flagellum biogenesisIEA-
GO:0046548retinal rod cell developmentIEA-
GO:0045494photoreceptor cell maintenanceIEA-
GO:0051457maintenance of protein location in nucleusIGI15107855 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000242pericentriolar materialIDA15107855 
GO:0005814centrioleIDA15107855 
GO:0005856cytoskeletonIEA-
GO:0005737cytoplasmIEA-
GO:0005932basal bodyIDA15107855 |18299575 
GO:0034464BBSomeIDA17574030 
GO:0034451centriolar satelliteIDA15107855 
GO:0031514motile secondary ciliumIDA18299575 
GO:0031513nonmotile primary ciliumIDA17574030 
GO:0060170cilium membraneIDA17574030 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391222All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS UP 214155All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS 12HR DN 209122All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
YANG BREAST CANCER ESR1 UP 3622All SZGR 2.0 genes in this pathway
NOUZOVA TRETINOIN AND H4 ACETYLATION 14385All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS EARLY PROGENITOR 532309All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 10170All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
YEGNASUBRAMANIAN PROSTATE CANCER 12860All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP 578341All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
MATZUK SPERMATOZOA 11477All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344215All SZGR 2.0 genes in this pathway
KRIEG KDM3A TARGETS NOT HYPOXIA 208107All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 6HR UP 16697All SZGR 2.0 genes in this pathway