Gene Page:BBS7

Summary?
GeneID 55212
Symbol BBS7
Synonyms BBS2L1
Description Bardet-Biedl syndrome 7
Reference MIM:607590|HGNC:HGNC:18758|Ensembl:ENSG00000138686|HPRD:07399|Vega:OTTHUMG00000133076
Gene type protein-coding
Map location 4q27
Pascal p-value 0.077
Sherlock p-value 0.837
Fetal beta -0.816
DMG 2 (# studies)
eGene Cerebellum
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This 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_2013 Genome-wide DNA methylation analysis The 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:cooccur High-throughput literature-search 系统搜索PubMed基因有限公司-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg03990551 4 122791477 BBS7 -0.02 1 DMG:Nishioka_2013
cg18913527 4 122745296 BBS7 1.87E-8 -0.016 6.64E-6 DMG:Jaffe_2016

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs4789947 chr17 77135790 BBS7 55212 0.2 trans
rs1795952 chr17 77136677 BBS7 55212 0.2 trans
rs2707040 chr17 77136833 BBS7 55212 0.2 trans

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
Gene Pearson's Correlation Spearman's Correlation
AC130289.1 0.49 0.48
TPRG1L 0.45 0.48
EGR3 0.44 0.44
MAL2 0.44 0.46
ENSA 0.42 0.47
维特 0.42 0.38
VAMP2 0.42 0.45
SYNPO 0.42 0.47
COX6A1P2 0.42 0.25
PRRT1 0.41 0.46
Top 10 negatively co-expressed genes
Gene Pearson'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 name Pathway size # SZGR 2.0 genes in pathway Info
WILCOX RESPONSE TO PROGESTERONE UP 152 90 All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS G UP 238 135 All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE UP 283 177 All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893 528 All SZGR 2.0 genes in this pathway
LINDVALL IMMORTALIZED BY TERT UP 78 48 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953 554 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783 442 All SZGR 2.0 genes in this pathway
MCMURRAY TP53 HRAS COOPERATION RESPONSE DN 67 46 All SZGR 2.0 genes in this pathway
KOHOUTEK CCNT1 TARGETS 50 26 All SZGR 2.0 genes in this pathway
FOSTER KDM1A TARGETS UP 266 142 All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839 928 All SZGR 2.0 genes in this pathway