DDX58 (DExD/H-box helicase 58) - Rat Genome Database

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Gene: DDX58 (DExD/H-box helicase 58) Homo sapiens
Analyze
Symbol: DDX58
Name: DExD/H-box helicase 58
RGD ID: 1319812
HGNC Page HGNC
Description: Exhibits several functions, including RNA binding activity; ubiquitin protein ligase binding activity; and zinc ion binding activity. Involved in several processes, including positive regulation of cytokine production; regulation of transcription, DNA-templated; and response to virus. Localizes to several cellular components, including actin cytoskeleton; bicellular tight junction; and ruffle membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: antiviral innate immune response receptor RIG-I; DEAD (Asp-Glu-Ala-Asp) box polypeptide 58; DEAD box protein 58; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide; DKFZp434J1111; DKFZp686N19181; FLJ13599; probable ATP-dependent RNA helicase DDX58; retinoic acid inducible gene I; retinoic acid-inducible gene 1 protein; retinoic acid-inducible gene I protein; RIG-1; RIG-I; RIG-I-like receptor 1; RIG1; RIGI; RLR-1; RNA helicase RIG-I; SGMRT2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: RARRES3 (Gene ID: 5920) and DDX58 (Gene ID: 23586) share the RIG1/RIG-1 alias in common. RIG1 is a widely used alternative name for DExD/H-box helicase 58 (DDX58), which can be confused with the retinoic acid receptor responder 3 (RARRES3) gene, since they share the same alias. [22 Jan 2019]; Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl932,455,302 - 32,526,208 (-)EnsemblGRCh38hg38GRCh38
GRCh38932,455,302 - 32,526,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37932,455,300 - 32,526,194 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,445,300 - 32,516,322 (-)NCBINCBI36hg18NCBI36
Build 34932,445,704 - 32,516,322NCBI
Celera932,385,259 - 32,456,256 (-)NCBI
Cytogenetic Map9p21.1NCBI
HuRef932,411,092 - 32,481,542 (-)NCBIHuRef
CHM1_1932,455,159 - 32,526,318 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
6alpha-methylprednisolone  (EXP)
acetamide  (ISO)
aconitine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amphetamine  (ISO)
aripiprazole  (EXP)
Aroclor 1254  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diclofenac  (EXP)
dicrotophos  (EXP)
diethyl malate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
folic acid  (ISO)
hydroxychloroquine  (ISO)
lipopolysaccharide  (EXP,ISO)
metam  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP,ISO)
methotrexate  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nicotine  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
poly(I:C)  (EXP)
polymyxin B2  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
prednisolone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium aurothiomalate  (EXP)
Soman  (ISO)
succimer  (EXP,ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiophenes  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11002417   PMID:11890704   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15181474   PMID:15208624   PMID:15219805   PMID:15297736   PMID:15370293   PMID:15612946   PMID:15708988  
PMID:15737993   PMID:15767399   PMID:16009940   PMID:16116171   PMID:16125763   PMID:16127453   PMID:16153868   PMID:16177806   PMID:16182584   PMID:16188996   PMID:16281057   PMID:16306043  
PMID:16585524   PMID:16707574   PMID:16797201   PMID:16946700   PMID:17038589   PMID:17038590   PMID:17053203   PMID:17079289   PMID:17093192   PMID:17182220   PMID:17190814   PMID:17307033  
PMID:17392790   PMID:17403696   PMID:17460044   PMID:17516545   PMID:17541283   PMID:17600090   PMID:17719635   PMID:17878351   PMID:17911629   PMID:18021446   PMID:18214119   PMID:18242112  
PMID:18243112   PMID:18250407   PMID:18258269   PMID:18268020   PMID:18428149   PMID:18446221   PMID:18550535   PMID:18617992   PMID:18632970   PMID:18635538   PMID:18636086   PMID:18650396  
PMID:18684960   PMID:18724357   PMID:18849341   PMID:18948594   PMID:18977754   PMID:18981155   PMID:19017631   PMID:19044019   PMID:19122199   PMID:19154402   PMID:19164550   PMID:19193793  
PMID:19201382   PMID:19211564   PMID:19234166   PMID:19324880   PMID:19374188   PMID:19374189   PMID:19380580   PMID:19419966   PMID:19454348   PMID:19454678   PMID:19478455   PMID:19484123  
PMID:19574455   PMID:19576794   PMID:19591957   PMID:19609254   PMID:19615405   PMID:19620789   PMID:19628239   PMID:19628240   PMID:19631370   PMID:19675569   PMID:19846522   PMID:19859543  
PMID:19881509   PMID:19890046   PMID:19893624   PMID:19902255   PMID:19922606   PMID:19948350   PMID:20001730   PMID:20007272   PMID:20034464   PMID:20042593   PMID:20071582   PMID:20127681  
PMID:20130065   PMID:20144762   PMID:20167631   PMID:20331378   PMID:20400512   PMID:20403326   PMID:20406818   PMID:20410276   PMID:20434986   PMID:20484300   PMID:20492658   PMID:20511549  
PMID:20519382   PMID:20554965   PMID:20581823   PMID:20595247   PMID:20639488   PMID:20805493   PMID:20818395   PMID:20926691   PMID:21068236   PMID:21084468   PMID:21102435   PMID:21113677  
PMID:21187441   PMID:21203974   PMID:21224412   PMID:21233210   PMID:21245912   PMID:21248047   PMID:21288362   PMID:21292167   PMID:21336305   PMID:21478870   PMID:21501829   PMID:21616437  
PMID:21632559   PMID:21659521   PMID:21690088   PMID:21691053   PMID:21695051   PMID:21791617   PMID:21811588   PMID:21813773   PMID:21835791   PMID:21873635   PMID:21890623   PMID:21899695  
PMID:21903422   PMID:21910972   PMID:21947008   PMID:21957149   PMID:21971670   PMID:21978001   PMID:21979817   PMID:22000018   PMID:22000019   PMID:22020100   PMID:22022264   PMID:22067459  
PMID:22114345   PMID:22152002   PMID:22235281   PMID:22301134   PMID:22301138   PMID:22312431   PMID:22328336   PMID:22402283   PMID:22430200   PMID:22504413   PMID:22607805   PMID:22623778  
PMID:22629479   PMID:22705106   PMID:22745133   PMID:22776165   PMID:22787226   PMID:22862800   PMID:22908223   PMID:22911572   PMID:22912574   PMID:22915805   PMID:22992810   PMID:23055530  
PMID:23056170   PMID:23060457   PMID:23063562   PMID:23118418   PMID:23185463   PMID:23209422   PMID:23262976   PMID:23264040   PMID:23284052   PMID:23325848   PMID:23333445   PMID:23385459  
PMID:23388719   PMID:23390110   PMID:23434273   PMID:23498958   PMID:23499489   PMID:23552410   PMID:23592984   PMID:23611287   PMID:23653683   PMID:23671710   PMID:23744645   PMID:23772026  
PMID:23843640   PMID:23870315   PMID:23950712   PMID:23955621   PMID:24039580   PMID:24131985   PMID:24334410   PMID:24360797   PMID:24366338   PMID:24371060   PMID:24391215   PMID:24399297  
PMID:24409285   PMID:24412064   PMID:24478431   PMID:24478443   PMID:24493797   PMID:24509444   PMID:24590070   PMID:24604766   PMID:24623417   PMID:24637767   PMID:24692634   PMID:24694234  
PMID:24701034   PMID:24706898   PMID:24719229   PMID:24729608   PMID:24743923   PMID:24755855   PMID:24763515   PMID:24800889   PMID:24821782   PMID:24850742   PMID:24886842   PMID:24905199  
PMID:24918927   PMID:24931123   PMID:24942585   PMID:24949794   PMID:24992036   PMID:24992168   PMID:25011106   PMID:25056901   PMID:25064677   PMID:25142601   PMID:25146252   PMID:25170834  
PMID:25172485   PMID:25172487   PMID:25288302   PMID:25315416   PMID:25359319   PMID:25404059   PMID:25490387   PMID:25552708   PMID:25620203   PMID:25626059   PMID:25658361   PMID:25704008  
PMID:25721089   PMID:25736886   PMID:25752576   PMID:25810557   PMID:25833049   PMID:25850761   PMID:25878102   PMID:25880109   PMID:25891073   PMID:25891078   PMID:25972545   PMID:26061460  
PMID:26093676   PMID:26116899   PMID:26144659   PMID:26187414   PMID:26215161   PMID:26223644   PMID:26299329   PMID:26311867   PMID:26336994   PMID:26344197   PMID:26354181   PMID:26355912  
PMID:26371557   PMID:26378160   PMID:26443454   PMID:26446607   PMID:26450567   PMID:26454171   PMID:26471729   PMID:26485346   PMID:26496610   PMID:26506431   PMID:26518362   PMID:26519536  
PMID:26535695   PMID:26608320   PMID:26609812   PMID:26612866   PMID:26631910   PMID:26725954   PMID:26746851   PMID:26829212   PMID:26862753   PMID:26876165   PMID:26906558   PMID:26992218  
PMID:26993858   PMID:26996158   PMID:26998762   PMID:27122586   PMID:27210312   PMID:27265729   PMID:27267403   PMID:27288441   PMID:27318973   PMID:27376632   PMID:27387525   PMID:27404108  
PMID:27425606   PMID:27506794   PMID:27512060   PMID:27572506   PMID:27629939   PMID:27633794   PMID:27651356   PMID:27707918   PMID:27815826   PMID:27824081   PMID:27956705   PMID:28057020  
PMID:28061796   PMID:28077651   PMID:28132841   PMID:28148787   PMID:28195391   PMID:28248290   PMID:28250012   PMID:28273895   PMID:28287082   PMID:28377495   PMID:28468914   PMID:28469175  
PMID:28475461   PMID:28481620   PMID:28507028   PMID:28560754   PMID:28591694   PMID:28594325   PMID:28631605   PMID:28656276   PMID:28659477   PMID:28710430   PMID:28738907   PMID:28762092  
PMID:28768856   PMID:28806404   PMID:28865477   PMID:28892164   PMID:28928438   PMID:28940253   PMID:28948228   PMID:29053956   PMID:29098213   PMID:29117565   PMID:29180807   PMID:29186193  
PMID:29233916   PMID:29235129   PMID:29259080   PMID:29263274   PMID:29288164   PMID:29321315   PMID:29357390   PMID:29453856   PMID:29492454   PMID:29496994   PMID:29507755   PMID:29525183  
PMID:29563291   PMID:29567028   PMID:29593341   PMID:29669840   PMID:29688572   PMID:29698627   PMID:29753657   PMID:29949917   PMID:29970461   PMID:29996094   PMID:30047865   PMID:30097581  
PMID:30100205   PMID:30177393   PMID:30193849   PMID:30224800   PMID:30258002   PMID:30258449   PMID:30267576   PMID:30270105   PMID:30342007   PMID:30451863   PMID:30466171   PMID:30558248  
PMID:30560918   PMID:30563889   PMID:30574673   PMID:30602605   PMID:30633820   PMID:30659926   PMID:30699358   PMID:30760567   PMID:30804210   PMID:30902577   PMID:30924966   PMID:30974086  
PMID:31006531   PMID:31043531   PMID:31068071   PMID:31088527   PMID:31091453   PMID:31139191   PMID:31176400   PMID:31207307   PMID:31237466   PMID:31299488   PMID:31304625   PMID:31335993  
PMID:31364528   PMID:31433974   PMID:31575732   PMID:31600868   PMID:31651197   PMID:31656003   PMID:31710640   PMID:31800094   PMID:31806368   PMID:31827077   PMID:31843969   PMID:31881323  
PMID:32015498   PMID:32019099   PMID:32023470   PMID:32027733   PMID:32035159   PMID:32092305   PMID:32117232   PMID:32152220   PMID:32357908   PMID:32427578   PMID:32471869   PMID:32513696  
PMID:32572027   PMID:32719095   PMID:32824946   PMID:32829203   PMID:32878892   PMID:32917788   PMID:32946572   PMID:33360745   PMID:33372174   PMID:33373584   PMID:33462384  


Genomics

Comparative Map Data
DDX58
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl932,455,302 - 32,526,208 (-)EnsemblGRCh38hg38GRCh38
GRCh38932,455,302 - 32,526,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37932,455,300 - 32,526,194 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,445,300 - 32,516,322 (-)NCBINCBI36hg18NCBI36
Build 34932,445,704 - 32,516,322NCBI
Celera932,385,259 - 32,456,256 (-)NCBI
Cytogenetic Map9p21.1NCBI
HuRef932,411,092 - 32,481,542 (-)NCBIHuRef
CHM1_1932,455,159 - 32,526,318 (-)NCBICHM1_1
Ddx58
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39440,203,775 - 40,239,843 (-)NCBIGRCm39mm39
GRCm39 Ensembl440,203,773 - 40,239,828 (-)Ensembl
GRCm38440,203,777 - 40,239,825 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl440,203,773 - 40,239,828 (-)EnsemblGRCm38mm10GRCm38
MGSCv37440,150,810 - 40,186,858 (-)NCBIGRCm37mm9NCBIm37
MGSCv36440,394,461 - 40,428,372 (-)NCBImm8
Celera439,866,998 - 39,902,804 (-)NCBICelera
Cytogenetic Map4A5NCBI
Ddx58
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2555,321,229 - 55,369,947 (-)NCBI
Rnor_6.0 Ensembl556,500,734 - 56,536,772 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0556,486,584 - 56,536,898 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0561,033,071 - 61,080,788 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4557,597,131 - 57,645,147 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1557,599,100 - 57,645,200 (-)NCBI
Celera553,939,534 - 53,986,275 (-)NCBICelera
Cytogenetic Map5q22NCBI
Ddx58
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554723,093,939 - 3,133,987 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554723,093,895 - 3,135,524 (+)NCBIChiLan1.0ChiLan1.0
DDX58
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1933,040,000 - 33,110,557 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl933,040,000 - 33,110,557 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0932,230,012 - 32,302,159 (-)NCBIMhudiblu_PPA_v0panPan3
DDX58
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11149,764,252 - 49,799,626 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1149,764,267 - 49,799,527 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1148,386,814 - 48,422,172 (-)NCBI
ROS_Cfam_1.01150,702,778 - 50,718,163 (-)NCBI
UMICH_Zoey_3.11149,368,434 - 49,403,794 (-)NCBI
UNSW_CanFamBas_1.01149,234,998 - 49,270,344 (-)NCBI
UU_Cfam_GSD_1.01149,993,647 - 50,029,015 (-)NCBI
Ddx58
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947164,594,226 - 164,653,026 (-)NCBI
SpeTri2.0NW_0049365241,141,840 - 1,200,638 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX58
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,865,838 - 33,933,455 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,891,720 - 33,976,151 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21038,145,289 - 38,189,016 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DDX58
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11247,729,040 - 47,800,995 (+)NCBI
ChlSab1.1 Ensembl1247,729,076 - 47,799,570 (+)Ensembl
Ddx58
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473637,134,718 - 37,204,543 (-)NCBI

Position Markers
SHGC-57421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,469,777 - 32,469,911UniSTSGRCh37
Build 36932,459,777 - 32,459,911RGDNCBI36
Celera932,399,734 - 32,399,868RGD
Cytogenetic Map9p12UniSTS
HuRef932,425,719 - 32,425,853UniSTS
TNG Radiation Hybrid Map916835.0UniSTS
RH69451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,472,809 - 32,473,013UniSTSGRCh37
Build 36932,462,809 - 32,463,013RGDNCBI36
Celera932,402,766 - 32,402,970RGD
Cytogenetic Map9p12UniSTS
HuRef932,428,751 - 32,428,955UniSTS
GeneMap99-GB4 RH Map9123.88UniSTS
RH78416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,526,865 - 32,526,988UniSTSGRCh37
Build 36932,516,865 - 32,516,988RGDNCBI36
Celera932,456,799 - 32,456,922RGD
Cytogenetic Map9p12UniSTS
HuRef932,482,085 - 32,482,208UniSTS
G43514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,526,774 - 32,526,900UniSTSGRCh37
Build 36932,516,774 - 32,516,900RGDNCBI36
Celera932,456,708 - 32,456,834RGD
Cytogenetic Map9p12UniSTS
HuRef932,481,994 - 32,482,120UniSTS
G59518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,526,774 - 32,526,888UniSTSGRCh37
Build 36932,516,774 - 32,516,888RGDNCBI36
Celera932,456,708 - 32,456,822RGD
Cytogenetic Map9p12UniSTS
HuRef932,481,994 - 32,482,108UniSTS
TNG Radiation Hybrid Map916854.0UniSTS
SHGC-147173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,466,214 - 32,466,558UniSTSGRCh37
Build 36932,456,214 - 32,456,558RGDNCBI36
Celera932,396,171 - 32,396,515RGD
Cytogenetic Map9p12UniSTS
HuRef932,422,162 - 32,422,506UniSTS
TNG Radiation Hybrid Map916835.0UniSTS
SHGC-57118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,455,968 - 32,456,077UniSTSGRCh37
Build 36932,445,968 - 32,446,077RGDNCBI36
Celera932,385,927 - 32,386,036RGD
Cytogenetic Map9p12UniSTS
TNG Radiation Hybrid Map916816.0UniSTS
RH47960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,457,027 - 32,457,146UniSTSGRCh37
Build 36932,447,027 - 32,447,146RGDNCBI36
Celera932,386,986 - 32,387,105RGD
Cytogenetic Map9p12UniSTS
HuRef932,412,819 - 32,412,938UniSTS
GeneMap99-GB4 RH Map9121.03UniSTS
SHGC-56591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,460,662 - 32,460,800UniSTSGRCh37
Build 36932,450,662 - 32,450,800RGDNCBI36
Celera932,390,622 - 32,390,760RGD
Cytogenetic Map9p12UniSTS
HuRef932,416,458 - 32,416,597UniSTS
TNG Radiation Hybrid Map916819.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1758
Count of miRNA genes:593
Interacting mature miRNAs:634
Transcripts:ENST00000379868, ENST00000379882, ENST00000379883, ENST00000542096, ENST00000545044
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 972 1015 543 116 1154 96 2136 344 720 182 646 927 31 606 1296 2
Low 1467 1970 1183 508 792 369 2221 1851 3011 237 814 685 144 1 598 1492 4 2
Below cutoff 6 5 2 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA862613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN998145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379868   ⟹   ENSP00000369197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,455,705 - 32,526,208 (-)Ensembl
RefSeq Acc Id: ENST00000379883   ⟹   ENSP00000369213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,455,302 - 32,526,196 (-)Ensembl
RefSeq Acc Id: ENST00000679662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,500,383 - 32,526,164 (-)Ensembl
RefSeq Acc Id: ENST00000679665   ⟹   ENSP00000504921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,455,302 - 32,502,736 (-)Ensembl
RefSeq Acc Id: ENST00000679771   ⟹   ENSP00000505015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,455,302 - 32,526,208 (-)Ensembl
RefSeq Acc Id: ENST00000679859   ⟹   ENSP00000505702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,456,312 - 32,526,196 (-)Ensembl
RefSeq Acc Id: ENST00000680733   ⟹   ENSP00000504892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,456,312 - 32,526,196 (-)Ensembl
RefSeq Acc Id: ENST00000680883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,492,900 - 32,526,164 (-)Ensembl
RefSeq Acc Id: ENST00000681352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,456,312 - 32,489,674 (-)Ensembl
RefSeq Acc Id: ENST00000681448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl932,481,726 - 32,491,697 (-)Ensembl
RefSeq Acc Id: NM_001385907   ⟹   NP_001372836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,455,302 - 32,526,196 (-)NCBI
RefSeq Acc Id: NM_001385909   ⟹   NP_001372838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,455,302 - 32,526,196 (-)NCBI
RefSeq Acc Id: NM_001385910   ⟹   NP_001372839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,455,302 - 32,526,196 (-)NCBI
RefSeq Acc Id: NM_001385912   ⟹   NP_001372841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,455,302 - 32,526,196 (-)NCBI
RefSeq Acc Id: NM_001385913   ⟹   NP_001372842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,455,302 - 32,526,196 (-)NCBI
RefSeq Acc Id: NM_001385914   ⟹   NP_001372843
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,455,302 - 32,526,196 (-)NCBI
RefSeq Acc Id: NM_014314   ⟹   NP_055129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,455,302 - 32,526,196 (-)NCBI
GRCh37932,455,300 - 32,526,322 (-)ENTREZGENE
Build 36932,445,300 - 32,516,322 (-)NCBI Archive
HuRef932,411,092 - 32,481,542 (-)ENTREZGENE
CHM1_1932,455,159 - 32,526,318 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055129   ⟸   NM_014314
- Peptide Label: isoform 1
- UniProtKB: O95786 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000369197   ⟸   ENST00000379868
RefSeq Acc Id: ENSP00000369213   ⟸   ENST00000379883
RefSeq Acc Id: NP_001372841   ⟸   NM_001385912
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001372842   ⟸   NM_001385913
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001372836   ⟸   NM_001385907
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001372838   ⟸   NM_001385909
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001372843   ⟸   NM_001385914
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001372839   ⟸   NM_001385910
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000504921   ⟸   ENST00000679665
RefSeq Acc Id: ENSP00000504892   ⟸   ENST00000680733
RefSeq Acc Id: ENSP00000505015   ⟸   ENST00000679771
RefSeq Acc Id: ENSP00000505702   ⟸   ENST00000679859
Protein Domains
CARD   CARD_2   Helicase ATP-binding   Helicase C-terminal   RLR CTR

Promoters
RGD ID:6807510
Promoter ID:HG_KWN:62873
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379868,   ENST00000379882,   NM_014314,   UC010MJJ.1,   UC010MJK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36932,515,944 - 32,516,444 (-)MPROMDB
RGD ID:7214847
Promoter ID:EPDNEW_H13169
Type:initiation region
Name:DDX58_1
Description:DExD/H-box helicase 58
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13170  EPDNEW_H13171  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,526,195 - 32,526,255EPDNEW
RGD ID:7214849
Promoter ID:EPDNEW_H13170
Type:initiation region
Name:DDX58_2
Description:DExD/H-box helicase 58
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13169  EPDNEW_H13171  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,526,323 - 32,526,383EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014314.4(DDX58):c.2272G>T (p.Glu758Ter) single nucleotide variant Singleton-Merten syndrome 2 [RCV001292622] Chr9:32466355 [GRCh38]
Chr9:32466353 [GRCh37]
Chr9:9p21.1		 pathogenic
NM_014314.4(DDX58):c.2587_2590dup (p.Cys864fs) duplication Singleton-Merten syndrome 2 [RCV001292756] Chr9:32457309..32457310 [GRCh38]
Chr9:32457307..32457308 [GRCh37]
Chr9:9p21.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 pathogenic
NM_014314.3(DDX58):c.1232C>T (p.Ser411Leu) single nucleotide variant Malignant melanoma [RCV000068630] Chr9:32487614 [GRCh38]
Chr9:32487612 [GRCh37]
Chr9:32477612 [NCBI36]
Chr9:9p21.1		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
NM_014314.4(DDX58):c.1118A>C (p.Glu373Ala) single nucleotide variant Singleton-Merten syndrome 2 [RCV000169760] Chr9:32488039 [GRCh38]
Chr9:32488037 [GRCh37]
Chr9:9p21.1		 pathogenic|not provided
NM_014314.4(DDX58):c.803G>T (p.Cys268Phe) single nucleotide variant Singleton-Merten syndrome 2 [RCV000169761] Chr9:32488884 [GRCh38]
Chr9:32488882 [GRCh37]
Chr9:9p21.1		 pathogenic|not provided
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014314.4(DDX58):c.202G>A (p.Gly68Ser) single nucleotide variant not provided [RCV000489441] Chr9:32500844 [GRCh38]
Chr9:32500842 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.1119A>C (p.Glu373Asp) single nucleotide variant not provided [RCV000520724] Chr9:32488038 [GRCh38]
Chr9:32488036 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_014314.4(DDX58):c.2660T>C (p.Ile887Thr) single nucleotide variant not provided [RCV000478708] Chr9:32457240 [GRCh38]
Chr9:32457238 [GRCh37]
Chr9:9p21.1		 likely pathogenic
NM_014314.4(DDX58):c.1916T>C (p.Leu639Pro) single nucleotide variant not provided [RCV000494406] Chr9:32476990 [GRCh38]
Chr9:32476988 [GRCh37]
Chr9:9p21.1		 likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
NM_014314.4(DDX58):c.2317G>A (p.Glu773Lys) single nucleotide variant not provided [RCV000513787] Chr9:32466310 [GRCh38]
Chr9:32466308 [GRCh37]
Chr9:9p21.1		 benign|likely benign
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014314.4(DDX58):c.1850T>C (p.Ile617Thr) single nucleotide variant not provided [RCV000921553] Chr9:32477056 [GRCh38]
Chr9:32477054 [GRCh37]
Chr9:9p21.1		 likely benign
NM_014314.4(DDX58):c.2080C>T (p.Leu694=) single nucleotide variant not provided [RCV000969043] Chr9:32467867 [GRCh38]
Chr9:32467865 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_014314.4(DDX58):c.1737C>T (p.Phe579=) single nucleotide variant not provided [RCV000968144] Chr9:32480256 [GRCh38]
Chr9:32480254 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.891G>T (p.Ala297=) single nucleotide variant not provided [RCV000968145] Chr9:32488796 [GRCh38]
Chr9:32488794 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.2747T>C (p.Ile916Thr) single nucleotide variant not provided [RCV000886725] Chr9:32457153 [GRCh38]
Chr9:32457151 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.2337+10C>T single nucleotide variant not provided [RCV000886726] Chr9:32466280 [GRCh38]
Chr9:32466278 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.1637G>A (p.Arg546Gln) single nucleotide variant not provided [RCV000954270] Chr9:32481341 [GRCh38]
Chr9:32481339 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.1611C>T (p.Ala537=) single nucleotide variant not provided [RCV000905203] Chr9:32481367 [GRCh38]
Chr9:32481365 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p21.1(chr9:32466538-32562788)x3 copy number gain not provided [RCV000846427] Chr9:32466538..32562788 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.1529A>T (p.Glu510Val) single nucleotide variant Singleton-Merten syndrome 2 [RCV000988170] Chr9:32481449 [GRCh38]
Chr9:32481447 [GRCh37]
Chr9:9p21.1		 likely pathogenic
NM_014314.4(DDX58):c.1863G>T (p.Glu621Asp) single nucleotide variant Singleton-Merten syndrome 2 [RCV001198678] Chr9:32477043 [GRCh38]
Chr9:32477041 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.1059C>T (p.Asn353=) single nucleotide variant not provided [RCV000885213] Chr9:32488098 [GRCh38]
Chr9:32488096 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.294A>G (p.Glu98=) single nucleotide variant not provided [RCV000885901] Chr9:32493890 [GRCh38]
Chr9:32493888 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.734A>G (p.Asn245Ser) single nucleotide variant not provided [RCV000892615] Chr9:32489409 [GRCh38]
Chr9:32489407 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.2338-7G>A single nucleotide variant not provided [RCV000952563] Chr9:32459521 [GRCh38]
Chr9:32459519 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.212G>A (p.Arg71His) single nucleotide variant not provided [RCV000954946] Chr9:32500834 [GRCh38]
Chr9:32500832 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.9C>T (p.Thr3=) single nucleotide variant not provided [RCV000887135] Chr9:32526158 [GRCh38]
Chr9:32526156 [GRCh37]
Chr9:9p21.1		 benign
NM_014314.4(DDX58):c.2368A>C (p.Ile790Leu) single nucleotide variant Singleton-Merten syndrome 2 [RCV001197601] Chr9:32459484 [GRCh38]
Chr9:32459482 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.415A>C (p.Ile139Leu) single nucleotide variant not provided [RCV000956714] Chr9:32493769 [GRCh38]
Chr9:32493767 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_014314.4(DDX58):c.396_399del (p.Asn133fs) microsatellite Singleton-Merten syndrome 2 [RCV001199120] Chr9:32493785..32493788 [GRCh38]
Chr9:32493783..32493786 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NM_014314.4(DDX58):c.151A>G (p.Met51Val) single nucleotide variant not provided [RCV001304246] Chr9:32500895 [GRCh38]
Chr9:32500893 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.2730C>G (p.Asp910Glu) single nucleotide variant not provided [RCV001346553] Chr9:32457170 [GRCh38]
Chr9:32457168 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.2728G>T (p.Asp910Tyr) single nucleotide variant not provided [RCV001342569] Chr9:32457172 [GRCh38]
Chr9:32457170 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.1738G>A (p.Asp580Asn) single nucleotide variant not provided [RCV001302086] Chr9:32480255 [GRCh38]
Chr9:32480253 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_014314.4(DDX58):c.2653C>T (p.Pro885Ser) single nucleotide variant not provided [RCV001316204] Chr9:32457247 [GRCh38]
Chr9:32457245 [GRCh37]
Chr9:9p21.1		 uncertain significance
NC_000009.11:g.(?_32399559)_(33541225_?)dup duplication not provided [RCV001324921] Chr9:32399559..33541225 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_014314.4(DDX58):c.2438G>A (p.Cys813Tyr) single nucleotide variant not provided [RCV001348998] Chr9:32459414 [GRCh38]
Chr9:32459412 [GRCh37]
Chr9:9p21.1		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19102 AgrOrtholog
COSMIC DDX58 COSMIC
Ensembl Genes ENSG00000107201 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000369197 UniProtKB/TrEMBL
  ENSP00000369213 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379868 UniProtKB/TrEMBL
  ENST00000379883 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.170.150.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107201 GTEx
HGNC ID HGNC:19102 ENTREZGENE
Human Proteome Map DDX58 Human Proteome Map
InterPro CARD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARD_RIG-I_r2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIG-I_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLR_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLR_CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23586 UniProtKB/Swiss-Prot
NCBI Gene 23586 ENTREZGENE
OMIM 609631 OMIM
  616298 OMIM
Pfam CARD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIG-I_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIG-I_C-RD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134994272 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLR_CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2A376_HUMAN UniProtKB/TrEMBL
  DDX58_HUMAN UniProtKB/Swiss-Prot
  L8E813_HUMAN UniProtKB/TrEMBL
  O95786 ENTREZGENE
  Q3B797_HUMAN UniProtKB/TrEMBL
UniProt Secondary A2RU81 UniProtKB/Swiss-Prot
  Q5HYE1 UniProtKB/Swiss-Prot
  Q5VYT1 UniProtKB/Swiss-Prot
  Q9NT04 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-04 DDX58  DExD/H-box helicase 58    DEXD/H-box helicase 58  Symbol and/or name change 5135510 APPROVED
2016-01-12 DDX58  DEXD/H-box helicase 58    DEAD (Asp-Glu-Ala-Asp) box polypeptide 58  Symbol and/or name change 5135510 APPROVED
2011-08-16 DDX58  DEAD (Asp-Glu-Ala-Asp) box polypeptide 58  DDX58  DEAD (Asp-Glu-Ala-Asp) box polypeptide 58  Symbol and/or name change 5135510 APPROVED