Summary ?
GeneID10075
SymbolHUWE1
SynonymsARF-BP1|HECTH9|HSPC272|Ib772|LASU1|MULE|URE-B1|UREB1
DescriptionHECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
ReferenceMIM:300697|HGNC:HGNC:30892|Ensembl:ENSG00000086758|HPRD:06608|Vega:OTTHUMG00000021617
Gene typeprotein-coding
Map locationXp11.22
Sherlock p-value0.008
TADA p-value0.035
Fetal beta0.135
eGeneMyers' cis & trans
SupportCompositeSet
Darnell FMRP targets

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:McCarthy_2014Whole Exome Sequencing analysisWhole exome sequencing of 57 trios with sporadic or familial schizophrenia.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
HUWE1chrX53654776GANM_031407p.V433Imissense SNVCPSchizophreniaDNM:McCarthy_2014
HUWE1chrX53561599GANM_031407p.4237R>CmissenseSchizophreniaDNM:Fromer_2014
HUWE1chrX53655840GCNM_031407p.326A>GmissenseSchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs10054412chr599304874HUWE1100750.18trans
rs10501383chr1160164526HUWE1100750.14trans

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
CTNND20.730.69
RP1-21O18.10.730.73
NTRK30.720.70
SCD50.710.76
GRM20.700.64
LMO70.700.68
B3GAT10.700.61
NEURL1B0.690.60
PRICKLE20.690.65
DSCAM0.690.73
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AL138743.2-0.49-0.60
SERPINB6-0.49-0.53
MTCP1NB-0.49-0.58
IFI27L2-0.48-0.64
C11orf67-0.47-0.54
DBI-0.47-0.56
C1orf54-0.47-0.60
AF347015.21-0.46-0.58
GNG11-0.46-0.57
VAMP5-0.46-0.53

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG UBIQUITIN MEDIATED PROTEOLYSIS 13898All SZGR 2.0 genes in this pathway
PID MYC ACTIV PATHWAY 7962All SZGR 2.0 genes in this pathway
PID P53 REGULATION PATHWAY 5950All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME ADAPTIVE IMMUNE SYSTEM 539350All SZGR 2.0 genes in this pathway
REACTOME CLASS I MHC MEDIATED ANTIGEN PROCESSING PRESENTATION 251156All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN PROCESSING UBIQUITINATION PROTEASOME DEGRADATION 212129All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED DN 8647All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR DN 214133All SZGR 2.0 genes in this pathway
BIDUS METASTASIS UP 214134All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS A UP 191128All SZGR 2.0 genes in this pathway
DIRMEIER LMP1 RESPONSE LATE UP 5741All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN 309206All SZGR 2.0 genes in this pathway
LU IL4 SIGNALING 9456All SZGR 2.0 genes in this pathway
NGUYEN NOTCH1 TARGETS DN 8667All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All 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
WEST ADRENOCORTICAL TUMOR DN 546362All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605377All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504321All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467251All SZGR 2.0 genes in this pathway