Summary ?
GeneID727897
SymbolMUC5B
SynonymsMG1|MUC-5B|MUC5|MUC9
Descriptionmucin 5B, oligomeric mucus/gel-forming
ReferenceMIM:600770|HGNC:HGNC:7516|Ensembl:ENSG00000117983|Vega:OTTHUMG00000166494
Gene typeprotein-coding
Map location11p15.5
Pascal p-value0.203
Fetal beta0.487
eGeneCortex
Meta
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
MUC5Bchr111263913CTNM_002458p.1935P>SmissenseSchizophreniaDNM:Fromer_2014
MUC5Bchr111272808GANM_002458p.4900V>MmissenseSchizophreniaDNM:Xu_2012


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 V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME O LINKED GLYCOSYLATION OF MUCINS 5929All SZGR 2.0 genes in this pathway
REACTOME TERMINATION OF O GLYCAN BIOSYNTHESIS 2412All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF PROTEINS 518242All SZGR 2.0 genes in this pathway
REACTOME POST TRANSLATIONAL PROTEIN MODIFICATION 188116All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634384All SZGR 2.0 genes in this pathway
WILCOX RESPONSE TO PROGESTERONE UP 15290All SZGR 2.0 genes in this pathway
WANG BARRETTS ESOPHAGUS UP 5127All SZGR 2.0 genes in this pathway
MEINHOLD OVARIAN CANCER LOW GRADE UP 1915All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER D 3714All SZGR 2.0 genes in this pathway
XU GH1 AUTOCRINE TARGETS UP 268157All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857456All SZGR 2.0 genes in this pathway
LIU IL13 MEMORY MODEL UP 1712All SZGR 2.0 genes in this pathway
NABA ECM AFFILIATED 17189All SZGR 2.0 genes in this pathway
NABA MATRISOME ASSOCIATED 753411All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway