Gene Page: DDX20

Summary ?
GeneID11218
SymbolDDX20
SynonymsDP103|GEMIN3
DescriptionDEAD-box helicase 20
ReferenceMIM:606168|HGNC:HGNC:2743|Ensembl:ENSG00000064703|HPRD:05859|Vega:OTTHUMG00000011956
Gene typeprotein-coding
Map location1p21.1-p13.2
Pascal p-value0.129
Fetal beta0.888
eGeneMeta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Guipponi_2014Whole Exome Sequencing analysis49 DNMs were identified by comparing the exome of 53 individuals with sporadic SCZ and of their non-affected parents
GSMA_IGenome scan meta-analysisPsr: 0.0235 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
DDX20GCNM_007204p.D55Hmissense01SchizophreniaDNM:Guipponi_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg178387051112298602DDX20;C1orf1831.978E-4-0.2180.035DMG:Wockner_2014


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:0000166nucleotide bindingIEA-
GO:0003677DNA bindingIEA-
GO:0004004ATP-dependent RNA helicase activityTAS10383418 
GO:0005515protein bindingIPI11714716 
GO:0005515protein bindingISS-
GO:0005524ATP bindingIEA-
GO:0016787hydrolase activityIEA-
GO:0016564transcription repressor activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000122negative regulation of transcription from RNA polymerase II promoterIEA-
GO:0000244assembly of spliceosomal tri-snRNPTAS10601333 
GO:0006397mRNA processingIEA-
GO:0008380RNA splicingIEA-
GO:0006917induction of apoptosisIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolEXP10531003 
GO:0005856cytoskeletonTAS10383418 
GO:0005634nucleusTAS10383418 
GO:0005654nucleoplasmEXP10531003 
GO:0005681spliceosomeIEA-
GO:0005737cytoplasmTAS10601333 
GO:0017053transcriptional repressor complexIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
BAT2D6S51 | D6S51E | DKFZp686D09175 | G2HLA-B associated transcript 2-HPRD,BioGRID14667819 
DHX9DDX9 | LKP | NDHII | RHADEAH (Asp-Glu-Ala-His) box polypeptide 9Affinity Capture-WesternBioGRID11149922 
EIF2C2AGO2 | MGC3183 | Q10eukaryotic translation initiation factor 2C, 2-HPRD,BioGRID11914277 |14970384 
FBLFIB | FLRN | RNU3IP1fibrillarinAffinity Capture-WesternBioGRID11509230 
GAR1NOLA1GAR1 ribonucleoprotein homolog (yeast)Affinity Capture-WesternBioGRID11509230 
GEMIN4DKFZp434B131 | DKFZp434D174 | HC56 | HCAP1 | HHRF-1 | p97gem (nuclear organelle) associated protein 4Affinity Capture-Western
Reconstituted Complex		BioGRID10725331 |11914277 
|12668731 
GEMIN5DKFZp586M1824 | MGC142174gem (nuclear organelle) associated protein 5-HPRD,BioGRID11714716 
GEMIN6FLJ23459gem (nuclear organelle) associated protein 6Affinity Capture-WesternBioGRID11748230 
GSK3B-glycogen synthase kinase 3 betaAffinity Capture-MSBioGRID17353931 
LSM2C6orf28 | G7b | YBL026W | snRNPLSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)Affinity Capture-Western
Reconstituted Complex		BioGRID10601333 
PHB2BAP | BCAP37 | Bap37 | MGC117268 | PNAS-141 | REA | p22prohibitin 2Affinity Capture-MSBioGRID17353931 
PNKPPNKpolynucleotide kinase 3'-phosphataseAffinity Capture-MSBioGRID17353931 
POLR1EFLJ13390 | FLJ13970 | PAF53 | PRAF1 | RP11-405L18.3polymerase (RNA) I polypeptide E, 53kDaAffinity Capture-MSBioGRID17353931 
PPP4R2MGC131930protein phosphatase 4, regulatory subunit 2Affinity Capture-MS
Affinity Capture-Western		BioGRID12668731 
RNPS1E5.1 | MGC117332RNA binding protein S1, serine-rich domainAffinity Capture-MSBioGRID17353931 
SIP1GEMIN2 | SIP1-deltasurvival of motor neuron protein interacting protein 1Affinity Capture-Western
Reconstituted Complex		BioGRID10601333 |11914277 
SMN1BCD541 | SMA | SMA1 | SMA2 | SMA3 | SMA4 | SMA@ | SMN | SMNT | T-BCD541survival of motor neuron 1, telomeric-HPRD,BioGRID10601333 
SMN2BCD541 | C-BCD541 | FLJ76644 | MGC20996 | MGC5208 | SMNCsurvival of motor neuron 2, centromeric-HPRD10942426 
SNRPBCOD | SNRPB1 | SmB/SmB' | snRNP-Bsmall nuclear ribonucleoprotein polypeptides B and B1-HPRD,BioGRID10601333 
SNRPD1HsT2456 | SMD1 | SNRPDsmall nuclear ribonucleoprotein D1 polypeptide 16kDa-HPRD,BioGRID10601333 
SNRPD2SMD2 | SNRPD1small nuclear ribonucleoprotein D2 polypeptide 16.5kDa-HPRD,BioGRID10601333 
SNRPD3SMD3small nuclear ribonucleoprotein D3 polypeptide 18kDa-HPRD,BioGRID10601333 
SNRPEB-raf | SMEsmall nuclear ribonucleoprotein polypeptide E-HPRD,BioGRID10601333 
SNRPFSMFsmall nuclear ribonucleoprotein polypeptide F-HPRD,BioGRID10601333 
SNRPGMGC117317 | SMGsmall nuclear ribonucleoprotein polypeptide G-HPRD,BioGRID10601333 
SNUPNKPNBL | RNUT1 | Snurportin1snurportin 1Reconstituted ComplexBioGRID12095920 
STXBP3MUNC18-3 | MUNC18C | PSP | UNC-18Csyntaxin binding protein 3-HPRD12065586 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA ETS PATHWAY 1812All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF NON CODING RNA 4929All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF RNA 330155All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS DN 431263All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352225All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795478All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
SAKAI TUMOR INFILTRATING MONOCYTES DN 8151All SZGR 2.0 genes in this pathway
SHEPARD CRUSH AND BURN MUTANT DN 185111All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS INTERMEDIATE PROGENITOR 14984All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN DN 271175All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN 277166All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448282All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway