Gene Page: GJB6

Summary ?
GeneID10804
SymbolGJB6
SynonymsCX30|DFNA3|DFNA3B|DFNB1B|ECTD2|ED2|EDH|HED|HED2
Descriptiongap junction protein beta 6
ReferenceMIM:604418|HGNC:HGNC:4288|Ensembl:ENSG00000121742|HPRD:05107|Vega:OTTHUMG00000016515
Gene typeprotein-coding
Map location13q12
Pascal p-value0.365
Fetal beta-3.059
DMG2 (# studies)
eGeneCerebellum

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
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
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg253695601320806543GJB64.57E-7-0.2950.006DMG:Wockner_2014
cg223773891320805679GJB6-0.0230.55DMG:Nishioka_2013


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
TRIM270.940.95
PJA10.940.94
C7orf700.940.94
HN10.930.94
ACTR1A0.930.92
CRMP10.930.97
TUBB0.920.95
C12orf410.920.92
EFTUD20.920.93
TTLL10.920.93
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.33-0.80-0.89
MT-CO2-0.80-0.89
AIFM3-0.79-0.82
AF347015.31-0.79-0.87
HEPN1-0.79-0.83
HLA-F-0.79-0.82
FXYD1-0.78-0.88
AF347015.27-0.78-0.88
MT-CYB-0.78-0.87
TSC22D4-0.77-0.84

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME MEMBRANE TRAFFICKING 12974All SZGR 2.0 genes in this pathway
REACTOME GAP JUNCTION TRAFFICKING 2719All SZGR 2.0 genes in this pathway
REACTOME GAP JUNCTION ASSEMBLY 1812All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP 408247All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS DN 264168All SZGR 2.0 genes in this pathway
KONDO PROSTATE CANCER WITH H3K27ME3 19693All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536296All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 3 UP 17097All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway