Gene Page: NEB

Summary ?
GeneID4703
SymbolNEB
SynonymsNEB177D|NEM2
Descriptionnebulin
ReferenceMIM:161650|HGNC:HGNC:7720|Ensembl:ENSG00000183091|HPRD:01196|Vega:OTTHUMG00000153784
Gene typeprotein-coding
Map location2q22
Pascal p-value0.036
TADA p-value0.008
Fetal beta-0.642
eGeneMyers' cis & trans
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:Gulsuner_2013Whole Exome Sequencing analysis155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.02395 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
NEBchr2152548856ATNM_001164507
NM_001164508
NM_001271208
NM_004543		p.639Y>*
p.639Y>*
p.639Y>*
p.639Y>*		nonsense
nonsense
nonsense
nonsense		SchizophreniaDNM:Fromer_2014
NEBchr2152362011GANM_001164507
NM_001164508
NM_001271208
NM_004543		p.7908T>M
p.7908T>M
p.7943T>M
p.6195T>M		missense
missense
missense
missense		SchizophreniaDNM:Gulsuner_2013

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4854166chr23297005NEB47030.16trans

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
TMEM126A0.890.85
MRPS150.880.87
MGST30.870.80
DNAJC190.870.85
UBL50.860.78
NDUFS30.860.81
COX7B0.860.83
NDUFB60.860.79
CMC10.860.83
C14orf20.850.83
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
LRP1-0.52-0.50
MTSS1L-0.48-0.49
MAP4K4-0.48-0.50
PXN-0.48-0.58
PHLDB1-0.47-0.48
SMTN-0.47-0.58
SLC19A1-0.47-0.48
STK10-0.47-0.52
TNKS1BP1-0.46-0.43
AC005035.1-0.46-0.47

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003779actin bindingIEA-
GO:0005515protein bindingIPI15967462 
GO:0008307structural constituent of muscleTAS7739042 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007525somatic muscle developmentNAS7739042 
GO:0030832regulation of actin filament lengthNAS7739042 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIEA-
GO:0030018Z discIDA9501083 
GO:0015629actin cytoskeletonTAS7739042 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME STRIATED MUSCLE CONTRACTION 2712All SZGR 2.0 genes in this pathway
REACTOME MUSCLE CONTRACTION 4824All SZGR 2.0 genes in this pathway
DAVICIONI TARGETS OF PAX FOXO1 FUSIONS DN 6849All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA UP 544308All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232154All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER F 5432All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA UP 6446All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249170All SZGR 2.0 genes in this pathway
GHO ATF5 TARGETS UP 1310All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P4 10062All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS 212121All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K9ME3 UP 14175All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN 264159All SZGR 2.0 genes in this pathway
PYEON CANCER HEAD AND NECK VS CERVICAL DN 2911All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE EARLY LATE 317190All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448282All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway