Summary ?
GeneID25831
SymbolHECTD1
SynonymsEULIR
DescriptionHECT domain E3 ubiquitin protein ligase 1
ReferenceHGNC:HGNC:20157|Ensembl:ENSG00000092148|HPRD:17098|Vega:OTTHUMG00000170670
Gene typeprotein-coding
Map location14q12
Pascal p-value0.002
Sherlock p-value0.114
Fetal beta-0.161
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: 0.047 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
HECTD1chr1431647323AGNM_015382p.93V>AmissenseSchizophreniaDNM: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 III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005488bindingIEA-
GO:0016874ligase activityIEA-
GO:0016881acid-amino acid ligase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001843neural tube closureIEA-
GO:0006464protein modification processIEA-
GO:0006511ubiquitin-dependent protein catabolic processIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005622intracellularIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL UP 285181All SZGR 2.0 genes in this pathway
RODRIGUES NTN1 TARGETS DN 158102All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS UP 457269All SZGR 2.0 genes in this pathway
SENESE HDAC1 AND HDAC2 TARGETS UP 238144All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All 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 UP 722443All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
WANG ESOPHAGUS CANCER VS NORMAL DN 10166All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS MATURE CELL 293160All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473224All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE UP 442263All SZGR 2.0 genes in this pathway
GABRIELY MIR21 TARGETS 289187All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504321All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-128213219m8hsa-miR-128aUCACAGUGAACCGGUCUCUUUU
hsa-miR-128bUCACAGUGAACCGGUCUCUUUC
miR-142-3p3583651A,m8hsa-miR-142-3pUGUAGUGUUUCCUACUUUAUGGA
miR-1452422481Ahsa-miR-145GUCCAGUUUUCCCAGGAAUCCCUU
miR-15/16/195/424/4971551611Ahsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
miR-369-3p7227281Ahsa-miR-369-3pAAUAAUACAUGGUUGAUCUUU
miR-3747227291A,m8hsa-miR-374UUAUAAUACAACCUGAUAAGUG
miR-3817177231Ahsa-miR-381UAUACAAGGGCAAGCUCUCUGU
miR-5031551611Ahsa-miR-503UAGCAGCGGGAACAGUUCUGCAG