Gene Page:HUWE1

Summary?
GeneID 10075
Symbol HUWE1
Synonyms ARF-BP1|HECTH9|HSPC272|Ib772|LASU1|MULE|URE-B1|UREB1
Description HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
Reference MIM:300697|HGNC:HGNC:30892|Ensembl:ENSG00000086758|HPRD:06608|Vega:OTTHUMG00000021617
Gene type protein-coding
Map location Xp11.22
Sherlock p-value 0.008
TADA p-value 0.035
Fetal beta 0.135
eGene Myers' cis & trans
Support CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
DNM:McCarthy_2014 Whole Exome Sequencing analysis Whole exome sequencing of 57 trios with sporadic or familial schizophrenia.
PMID:cooccur High-throughput literature-search 系统的search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
HUWE1 chrX 53654776 G A NM_031407 p.V433I missense SNV C P Schizophrenia DNM:McCarthy_2014
HUWE1 chrX 53561599 G A NM_031407 p.4237R>C missense Schizophrenia DNM:Fromer_2014
HUWE1 chrX 53655840 G C NM_031407 p.326A>G missense Schizophrenia DNM:Fromer_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs10054412 chr5 99304874 HUWE1 10075 0.18 trans
rs10501383 chr11 60164526 HUWE1 10075 0.14 trans

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
Gene Pearson's Correlation Spearman's Correlation
CTNND2 0.73 0.69
RP1-21O18.1 0.73 0.73
NTRK3 0.72 0.70
SCD5 0.71 0.76
GRM2 0.70 0.64
LMO7 0.70 0.68
B3GAT1 0.70 0.61
NEURL1B 0.69 0.60
PRICKLE2 0.69 0.65
DSCAM 0.69 0.73
Top 10 negatively co-expressed genes
Gene Pearson'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 name Pathway size # SZGR 2.0 genes in pathway Info
KEGG UBIQUITIN MEDIATED PROTEOLYSIS 138 98 All SZGR 2.0 genes in this pathway
PID MYC ACTIV PATHWAY 79 62 All SZGR 2.0 genes in this pathway
PID P53 REGULATION PATHWAY 59 50 All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933 616 All SZGR 2.0 genes in this pathway
REACTOME适应性免疫系统 539 350 All SZGR 2.0 genes in this pathway
REACTOME CLASS I MHC MEDIATED ANTIGEN PROCESSING PRESENTATION 251 156 All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN PROCESSING UBIQUITINATION PROTEASOME DEGRADATION 212 129 All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED DN 86 47 All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR DN 214 133 All SZGR 2.0 genes in this pathway
BIDUS METASTASIS UP 214 134 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS A UP 191 128 All SZGR 2.0 genes in this pathway
DIRMEIER LMP1 RESPONSE LATE UP 57 41 All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848 527 All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957 597 All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734 436 All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN 309 206 All SZGR 2.0 genes in this pathway
LU IL4 SIGNALING 94 56 All SZGR 2.0 genes in this pathway
NGUYEN NOTCH1 TARGETS DN 86 67 All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681 420 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528 324 All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543 317 All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593 372 All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591 366 All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546 362 All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605 377 All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504 321 All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430 288 All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467 251 All SZGR 2.0 genes in this pathway