Summary ?
GeneID25793
SymbolFBXO7
SynonymsFBX|FBX07|FBX7|PARK15|PKPS
DescriptionF-box protein 7
ReferenceMIM:605648|HGNC:HGNC:13586|Ensembl:ENSG00000100225|HPRD:07292|Vega:OTTHUMG00000030674
Gene typeprotein-coding
Map location22q12.3
Pascal p-value0.495
Sherlock p-value0.566
Fetal beta-0.656
eGeneAnterior cingulate cortex BA24
Cortex
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
GSMA_IGenome scan meta-analysisPsr: 0.031 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
FBXO7chr2232875203CTNM_001033024
NM_001257990
NM_012179
p.41P>S
p.6P>S
p.120P>S
missense
missense
missense
SchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs57541202232899858FBXO7ENSG00000100225.131.34127E-60.0429195gtex_brain_ba24

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 III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI15145941 
GO:0004842ubiquitin-protein ligase activityTAS10531035 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006511ubiquitin-dependent protein catabolic processTAS10531035 
GO:0031647regulation of protein stabilityIDA15145941 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000151ubiquitin ligase complexTAS10531035 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DITTMER PTHLH TARGETS DN 7351All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway