Gene Page: BBS7

Summary ?
GeneID55212
SymbolBBS7
SynonymsBBS2L1
DescriptionBardet-Biedl syndrome 7
ReferenceMIM:607590|HGNC:HGNC:18758|Ensembl:ENSG00000138686|HPRD:07399|Vega:OTTHUMG00000133076
Gene typeprotein-coding
Map location4q27
Pascal p-value0.077
Sherlock p-value0.837
Fetal beta-0.816
DMG2 (# studies)
eGeneCerebellum
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 2
DMG:Nishioka_2013Genome-wide DNA methylation analysisThe authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 2
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

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg039905514122791477BBS7-0.021DMG:Nishioka_2013
cg189135274122745296BBS71.87E-8-0.0166.64E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4789947chr1777135790BBS7552120.2trans
rs1795952chr1777136677BBS7552120.2trans
rs2707040chr1777136833BBS7552120.2trans

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
AC130289.10.490.48
TPRG1L0.450.48
EGR30.440.44
MAL20.440.46
ENSA0.420.47
VIT0.420.38
VAMP20.420.45
SYNPO0.420.47
COX6A1P20.420.25
PRRT10.410.46
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
RP9-0.27-0.21
RPL23A-0.26-0.28
SH2B2-0.26-0.25
RPL34-0.26-0.34
DYNLT1-0.26-0.29
RPS4X-0.25-0.24
RPL11-0.25-0.34
BCL7C-0.25-0.27
RP9P-0.25-0.33
GTF3C6-0.25-0.30

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
GAUSSMANN MLL AF4 FUSION TARGETS G UP 238135All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE UP 283177All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
LINDVALL IMMORTALIZED BY TERT UP 7848All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953554All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783442All SZGR 2.0 genes in this pathway
MCMURRAY TP53 HRAS COOPERATION RESPONSE DN 6746All SZGR 2.0 genes in this pathway
KOHOUTEK CCNT1 TARGETS 5026All SZGR 2.0 genes in this pathway
FOSTER KDM1A TARGETS UP 266142All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway