Summary?
GeneID 11218
Symbol DDX20
Synonyms DP103|GEMIN3
Description DEAD-box helicase 20
Reference MIM:606168|HGNC:HGNC:2743|Ensembl:ENSG00000064703|HPRD:05859|Vega:OTTHUMG00000011956
Gene type protein-coding
Map location 1p21.1-p13.2
Pascal p-value 0.129
Fetal beta 0.888
eGene

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Guipponi_2014 Whole Exome Sequencing analysis 49 DNMs were identified by comparing the exome of 53 individuals with sporadic SCZ and of their non-affected parents
GSMA_I Genome scan meta-analysis Psr: 0.0235

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
DDX20 G C NM_007204 p.D55H missense 0 1 Schizophrenia DNM:Guipponi_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg17838705 1 112298602 DDX20; C1orf183 1.978E-4 -0.218 0.035 DMG: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 function GO term Evidence Neuro keywords PubMed ID
GO:0000166 nucleotide binding IEA -
GO:0003677 DNA binding IEA -
GO:0004004 ATP-dependent RNA helicase activity TAS 10383418
GO:0005515 protein binding IPI 11714716
GO:0005515 protein binding ISS -
GO:0005524 ATP binding IEA -
GO:0016787 hydrolase activity IEA -
GO:0016564 transcription repressor activity IEA -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA -
GO:0000244 assembly of spliceosomal tri-snRNP TAS 10601333
GO:0006397 mRNA processing IEA -
GO:0008380 RNA splicing IEA -
GO:0006917 induction of apoptosis IEA -
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005829 cytosol EXP 10531003
GO:0005856 cytoskeleton TAS 10383418
GO:0005634 nucleus TAS 10383418
GO:0005654 nucleoplasm EXP 10531003
GO:0005681 spliceosome IEA -
GO:0005737 cytoplasm TAS 10601333
GO:0017053 transcriptional repressor complex IEA -

Section IV. Protein-protein interaction annotation

Interactors Aliases B Official full name B Experimental Source PubMed ID
BAT2 D6S51 | D6S51E | DKFZp686D09175 | G2 HLA-B associated transcript 2 - HPRD,BioGRID 14667819
DHX9 DDX9 | LKP | NDHII | RHA DEAH (Asp-Glu-Ala-His) box polypeptide 9 Affinity Capture-Western BioGRID 11149922
EIF2C2 AGO2 | MGC3183 | Q10 eukaryotic translation initiation factor 2C, 2 - HPRD,BioGRID 11914277|14970384
FBL FIB | FLRN | RNU3IP1 fibrillarin Affinity Capture-Western BioGRID 11509230
GAR1 NOLA1 GAR1 ribonucleoprotein homolog (yeast) Affinity Capture-Western BioGRID 11509230
GEMIN4 DKFZp434B131 | DKFZp434D174 | HC56 | HCAP1 | HHRF-1 | p97 gem (nuclear organelle) associated protein 4 Affinity Capture-Western
Reconstituted Complex
BioGRID 10725331|11914277
|12668731
GEMIN5 DKFZp586M1824 | MGC142174 gem (nuclear organelle) associated protein 5 - HPRD,BioGRID 11714716
GEMIN6 FLJ23459 gem (nuclear organelle) associated protein 6 Affinity Capture-Western BioGRID 11748230
GSK3B - glycogen synthase kinase 3 beta Affinity Capture-MS BioGRID 17353931
LSM2 C6orf28 | G7b | YBL026W | snRNP LSM2同族体,U6小核RNA (S相关联。cerevisiae) Affinity Capture-Western
Reconstituted Complex
BioGRID 10601333
PHB2 BAP | BCAP37 | Bap37 | MGC117268 | PNAS-141 | REA | p22 prohibitin 2 Affinity Capture-MS BioGRID 17353931
PNKP PNK polynucleotide kinase 3'-phosphatase Affinity Capture-MS BioGRID 17353931
POLR1E FLJ13390 | FLJ13970 | PAF53 | PRAF1 | RP11-405L18.3 polymerase (RNA) I polypeptide E, 53kDa Affinity Capture-MS BioGRID 17353931
PPP4R2 MGC131930 protein phosphatase 4, regulatory subunit 2 Affinity Capture-MS
Affinity Capture-Western
BioGRID 12668731
RNPS1 E5.1 | MGC117332 RNA binding protein S1, serine-rich domain Affinity Capture-MS BioGRID 17353931
SIP1 GEMIN2 | SIP1-delta survival of motor neuron protein interacting protein 1 Affinity Capture-Western
Reconstituted Complex
BioGRID 10601333|11914277
SMN1 BCD541 | SMA | SMA1 | SMA2 | SMA3 | SMA4 | SMA@ | SMN | SMNT | T-BCD541 survival of motor neuron 1, telomeric - HPRD,BioGRID 10601333
SMN2 BCD541 | C-BCD541 | FLJ76644 | MGC20996 | MGC5208 | SMNC survival of motor neuron 2, centromeric - HPRD 10942426
SNRPB COD | SNRPB1 | SmB/SmB' | snRNP-B 小型核ribonucleoprotein polypeptides B and B1 - HPRD,BioGRID 10601333
SNRPD1 HsT2456 | SMD1 | SNRPD 小型核ribonucleoprotein D1 polypeptide 16kDa - HPRD,BioGRID 10601333
SNRPD2 SMD2 | SNRPD1 小型核ribonucleoprotein D2 polypeptide 16.5kDa - HPRD,BioGRID 10601333
SNRPD3 SMD3 小型核ribonucleoprotein D3 polypeptide 18kDa - HPRD,BioGRID 10601333
SNRPE B-raf | SME 小型核ribonucleoprotein polypeptide E - HPRD,BioGRID 10601333
SNRPF SMF 小型核ribonucleoprotein polypeptide F - HPRD,BioGRID 10601333
SNRPG MGC117317 | SMG 小型核ribonucleoprotein polypeptide G - HPRD,BioGRID 10601333
SNUPN KPNBL | RNUT1 | Snurportin1 snurportin 1 Reconstituted Complex BioGRID 12095920
STXBP3 MUNC18-3 | MUNC18C | PSP | UNC-18C syntaxin binding protein 3 - HPRD 12065586


Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
BIOCARTA ETS PATHWAY 18 12 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF NON CODING RNA 49 29 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF RNA 330 155 All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS DN 431 263 All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352 225 All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795 478 All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988 594 All SZGR 2.0 genes in this pathway
SAKAI TUMOR INFILTRATING MONOCYTES DN 81 51 All SZGR 2.0 genes in this pathway
SHEPARD CRUSH AND BURN MUTANT DN 185 111 All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS INTERMEDIATE PROGENITOR 149 84 All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN DN 271 175 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN 277 166 All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882 538 All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448 282 All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570 339 All SZGR 2.0 genes in this pathway