DDX1 (DEAD-box helicase 1) - Rat Genome Database

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Gene: DDX1 (DEAD-box helicase 1) Homo sapiens
Analyze
Symbol: DDX1
Name: DEAD-box helicase 1
RGD ID: 737232
HGNC Page HGNC:2734
Description: Enables several functions, including helicase activity; poly(A) binding activity; and transcription coregulator activity. Involved in several processes, including DNA duplex unwinding; protein localization to cytoplasmic stress granule; and tRNA splicing, via endonucleolytic cleavage and ligation. Located in cleavage body; cytoplasmic stress granule; and cytosol. Part of ribonucleoprotein complex and tRNA-splicing ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent RNA helicase DDX1; DBP-RB; DEAD (Asp-Glu-Ala-Asp) box helicase 1; DEAD (Asp-Glu-Ala-Asp) box polypeptide 1; DEAD box polypeptide 1; DEAD box protein 1; DEAD box protein retinoblastoma; DEAD box-1; DEAD-box RNA helicase DDX1; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1; DEAD/H-box helicase 1; UKVH5d
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38215,591,868 - 15,631,101 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl215,591,178 - 15,634,346 (+)EnsemblGRCh38hg38GRCh38
GRCh37215,731,992 - 15,771,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36215,649,221 - 15,688,676 (+)NCBINCBI36Build 36hg18NCBI36
Build 34215,682,367 - 15,721,823NCBI
Celera215,649,490 - 15,688,945 (+)NCBICelera
Cytogenetic Map2p24.3NCBI
HuRef215,583,004 - 15,622,496 (+)NCBIHuRef
CHM1_1215,661,598 - 15,701,093 (+)NCBICHM1_1
T2T-CHM13v2.0215,623,489 - 15,662,692 (+)NCBIT2T-CHM13v2.0
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
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buspirone  (ISO)
C60 fullerene  (ISO)
cadmium sulfate  (ISO)
chlorpyrifos  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
FR900359  (EXP)
fumonisin B1  (ISO)
gallic acid  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
isoflavones  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
menadione  (EXP)
methidathion  (ISO)
methimazole  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
Nutlin-3  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sulfadimethoxine  (ISO)
sulindac  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cleavage body  (IDA)
cytoplasm  (IDA,IEA,NAS)
cytoplasmic stress granule  (IDA,IEA)
cytosol  (IDA,IEA)
membrane  (HDA)
mitochondrion  (IEA,ISS)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,NAS)
ribonucleoprotein complex  (IDA)
tRNA-splicing ligase complex  (IDA,NAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1552844   PMID:7689221   PMID:8135819   PMID:10319407   PMID:10834319   PMID:11598190   PMID:11790298   PMID:12183465   PMID:12477932   PMID:14744259   PMID:15161933   PMID:15489334  
PMID:15567440   PMID:15588285   PMID:15635413   PMID:15892970   PMID:16159877   PMID:16230076   PMID:16354571   PMID:17028906   PMID:17220478   PMID:17314511   PMID:17380053   PMID:17380054  
PMID:17611020   PMID:17620599   PMID:17661632   PMID:18029348   PMID:18320585   PMID:18335541   PMID:18508616   PMID:18710941   PMID:18809582   PMID:19058135   PMID:19135240   PMID:19149558  
PMID:19240061   PMID:19398953   PMID:19738201   PMID:19946888   PMID:20348541   PMID:20467437   PMID:20499159   PMID:20573827   PMID:20890123   PMID:21081503   PMID:21081666   PMID:21145461  
PMID:21280222   PMID:21311021   PMID:21319273   PMID:21358275   PMID:21697133   PMID:21763499   PMID:21832049   PMID:21873635   PMID:21907836   PMID:21946350   PMID:21988832   PMID:22051512  
PMID:22079093   PMID:22174317   PMID:22446626   PMID:22479191   PMID:22544364   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22863883   PMID:22939629   PMID:23125841  
PMID:23284291   PMID:23608157   PMID:23703321   PMID:23797032   PMID:23979707   PMID:24023901   PMID:24130170   PMID:24189637   PMID:24332808   PMID:24390425   PMID:24550385   PMID:24608264  
PMID:24654937   PMID:24657165   PMID:24711643   PMID:24870230   PMID:24965446   PMID:24981860   PMID:24993907   PMID:25147182   PMID:25192599   PMID:25324306   PMID:25437307   PMID:25496916  
PMID:25662211   PMID:25690890   PMID:25921289   PMID:25963833   PMID:26030138   PMID:26217791   PMID:26323305   PMID:26344197   PMID:26496610   PMID:26777405   PMID:26831064   PMID:27025967  
PMID:27105836   PMID:27173435   PMID:27248496   PMID:27550810   PMID:27565346   PMID:27609421   PMID:27684187   PMID:28040436   PMID:28302793   PMID:28379444   PMID:28431233   PMID:28514442  
PMID:28515276   PMID:28524877   PMID:28533407   PMID:28544931   PMID:28700943   PMID:28712289   PMID:28902428   PMID:28977666   PMID:29117863   PMID:29128334   PMID:29228324   PMID:29229926  
PMID:29395067   PMID:29467282   PMID:29507755   PMID:29511261   PMID:29511296   PMID:29593330   PMID:29679569   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29869821   PMID:29961565  
PMID:29991511   PMID:29992460   PMID:30021884   PMID:30196744   PMID:30209976   PMID:30295819   PMID:30442662   PMID:30463901   PMID:30575818   PMID:30629181   PMID:30737378   PMID:30833792  
PMID:30884312   PMID:30890647   PMID:30940648   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31073040   PMID:31076518   PMID:31091453   PMID:31152661   PMID:31324722   PMID:31332168  
PMID:31353912   PMID:31359346   PMID:31462707   PMID:31527668   PMID:31586073   PMID:31665637   PMID:31685992   PMID:31995728   PMID:32041737   PMID:32129710   PMID:32188489   PMID:32235678  
PMID:32239614   PMID:32344865   PMID:32416067   PMID:32433965   PMID:32521226   PMID:32529326   PMID:32552912   PMID:32707033   PMID:32755435   PMID:32780723   PMID:32786267   PMID:32807901  
PMID:32905556   PMID:32915406   PMID:32963011   PMID:33024031   PMID:33239621   PMID:33567341   PMID:33644029   PMID:33658012   PMID:33742100   PMID:33961781   PMID:34091597   PMID:34133714  
PMID:34186245   PMID:34189442   PMID:34232536   PMID:34244482   PMID:34248311   PMID:34349018   PMID:34373451   PMID:34428256   PMID:34462429   PMID:34597346   PMID:34650049   PMID:34709727  
PMID:34728620   PMID:34767673   PMID:35013218   PMID:35063084   PMID:35066290   PMID:35107372   PMID:35140242   PMID:35182466   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35338135  
PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35563538   PMID:35575683   PMID:35652658   PMID:35676659   PMID:35696571   PMID:35777956   PMID:35785414   PMID:35831314  
PMID:35850772   PMID:35915203   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36129980   PMID:36168627   PMID:36168628   PMID:36180891   PMID:36199071   PMID:36215168   PMID:36261009  
PMID:36273042   PMID:36339263   PMID:36373674   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36779763   PMID:36931259   PMID:36934972   PMID:36982856   PMID:37071682  
PMID:37132043   PMID:37211047   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37536630   PMID:37556111   PMID:37640791   PMID:37801910   PMID:37827155   PMID:38096740   PMID:38113892  
PMID:38172120   PMID:38243657   PMID:38334954   PMID:38492217   PMID:38580884   PMID:38697112   PMID:38777146   PMID:39147351  


Genomics

Comparative Map Data
DDX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38215,591,868 - 15,631,101 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl215,591,178 - 15,634,346 (+)EnsemblGRCh38hg38GRCh38
GRCh37215,731,992 - 15,771,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36215,649,221 - 15,688,676 (+)NCBINCBI36Build 36hg18NCBI36
Build 34215,682,367 - 15,721,823NCBI
Celera215,649,490 - 15,688,945 (+)NCBICelera
Cytogenetic Map2p24.3NCBI
HuRef215,583,004 - 15,622,496 (+)NCBIHuRef
CHM1_1215,661,598 - 15,701,093 (+)NCBICHM1_1
T2T-CHM13v2.0215,623,489 - 15,662,692 (+)NCBIT2T-CHM13v2.0
Ddx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391213,269,308 - 13,299,175 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1213,266,974 - 13,299,214 (-)EnsemblGRCm39 Ensembl
GRCm381213,219,307 - 13,249,174 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1213,216,973 - 13,249,213 (-)EnsemblGRCm38mm10GRCm38
MGSCv371213,226,113 - 13,255,980 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361213,245,295 - 13,275,162 (-)NCBIMGSCv36mm8
Celera1213,565,291 - 13,593,111 (-)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map126.4NCBI
Ddx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8641,725,365 - 41,756,236 (-)NCBIGRCr8
mRatBN7.2635,996,469 - 36,027,340 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl635,996,469 - 36,027,365 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx636,308,721 - 36,339,592 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0636,623,377 - 36,654,248 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0636,091,437 - 36,122,515 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0638,422,892 - 38,453,762 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl638,422,888 - 38,453,797 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0647,188,697 - 47,219,567 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4636,794,602 - 36,825,473 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1636,812,356 - 36,818,005 (-)NCBI
Celera635,359,044 - 35,389,916 (-)NCBICelera
Cytogenetic Map6q15NCBI
Ddx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554879,085,918 - 9,119,979 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554879,085,950 - 9,117,599 (+)NCBIChiLan1.0ChiLan1.0
DDX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212110,890,477 - 110,930,113 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A110,894,450 - 110,959,990 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A15,582,499 - 15,619,751 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A15,716,044 - 15,753,482 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A15,716,044 - 15,753,623 (+)Ensemblpanpan1.1panPan2
DDX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11711,432,060 - 11,467,000 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1711,432,136 - 11,466,990 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1711,375,128 - 11,409,962 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01711,559,789 - 11,594,731 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1711,559,798 - 11,594,727 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11711,419,496 - 11,454,379 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01711,429,814 - 11,464,805 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01711,454,120 - 11,488,966 (+)NCBIUU_Cfam_GSD_1.0
Ddx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629255,920,933 - 55,954,651 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649314,884,442 - 14,918,823 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649314,884,532 - 14,918,621 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3121,818,406 - 121,856,604 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13121,818,400 - 121,856,667 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23130,448,196 - 130,480,756 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DDX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11492,007,446 - 92,045,414 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1492,007,036 - 92,045,190 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604520,189,540 - 20,227,199 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ddx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624865898,850 - 928,091 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624865898,850 - 927,375 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DDX1
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 copy number loss See cases [RCV000053978] Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3		 pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3 copy number gain See cases [RCV000134770] Chr2:14715345..16305738 [GRCh38]
Chr2:14855469..16487006 [GRCh37]
Chr2:14772920..16350487 [NCBI36]
Chr2:2p24.3		 uncertain significance
GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1 copy number loss See cases [RCV000137049] Chr2:13664310..16228425 [GRCh38]
Chr2:13804435..16409693 [GRCh37]
Chr2:13721886..16273174 [NCBI36]
Chr2:2p24.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p24.3(chr2:14617464-16467586)x1 copy number loss See cases [RCV000446084] Chr2:14617464..16467586 [GRCh37]
Chr2:2p24.3		 pathogenic
NC_000002.11:g.(?_11326144)_(16240708_?)del deletion Schizophrenia [RCV000416804] Chr2:11326144..16240708 [GRCh37]
Chr2:11243595..16158159 [NCBI36]
Chr2:2p25.1-24.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1		 pathogenic
NM_004939.3(DDX1):c.1922C>T (p.Thr641Ile) single nucleotide variant not specified [RCV004325001] Chr2:15629648 [GRCh38]
Chr2:15769772 [GRCh37]
Chr2:2p24.3		 uncertain significance
GRCh37/hg19 2p24.3(chr2:15718236-16693828)x3 copy number gain not provided [RCV000682111] Chr2:15718236..16693828 [GRCh37]
Chr2:2p24.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NC_000002.12:g.(?_11177745)_(16113827_?)del deletion Schizophrenia [RCV000754225] Chr2:11177745..16113827 [GRCh38]
Chr2:2p25.1-24.3		 likely pathogenic
Single allele duplication Primary amenorrhea [RCV000754403] Chr2:15091702..16172000 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1947T>C (p.Cys649=) single nucleotide variant not provided [RCV000883633] Chr2:15629673 [GRCh38]
Chr2:15769797 [GRCh37]
Chr2:2p24.3		 benign
NM_004939.3(DDX1):c.1341A>T (p.Pro447=) single nucleotide variant not provided [RCV000881179] Chr2:15620342 [GRCh38]
Chr2:15760466 [GRCh37]
Chr2:2p24.3		 benign
GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1 copy number loss not provided [RCV000847885] Chr2:15631145..21729493 [GRCh37]
Chr2:2p24.3-24.1		 pathogenic
GRCh37/hg19 2p24.3(chr2:15636487-15786810)x3 copy number gain not provided [RCV000849294] Chr2:15636487..15786810 [GRCh37]
Chr2:2p24.3		 uncertain significance
NC_000002.11:g.15744252_17675820del deletion Optic atrophy [RCV001003856] Chr2:15744252..17675820 [GRCh37]
Chr2:2p24.3-24.2		 likely pathogenic
GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3 copy number gain not provided [RCV000847286] Chr2:12269293..18259781 [GRCh37]
Chr2:2p24.3-24.2		 pathogenic
GRCh37/hg19 2p24.3-24.2(chr2:15478363-17062394)x3 copy number gain not provided [RCV001005234] Chr2:15478363..17062394 [GRCh37]
Chr2:2p24.3-24.2		 pathogenic
GRCh37/hg19 2p24.3(chr2:15621732-16226970)x3 copy number gain not provided [RCV001259157] Chr2:15621732..16226970 [GRCh37]
Chr2:2p24.3		 pathogenic
GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1 copy number loss not provided [RCV001537913] Chr2:15640273..19609496 [GRCh37]
Chr2:2p24.3-24.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NC_000002.11:g.(?_15307172)_(16086219_?)dup duplication not provided [RCV001973297] Chr2:15307172..16086219 [GRCh37]
Chr2:2p24.3		 uncertain significance
NC_000002.11:g.(?_15760332)_(17692222_?)del deletion not provided [RCV001975009] Chr2:15760332..17692222 [GRCh37]
Chr2:2p24.3-24.2		 pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_004939.3(DDX1):c.268A>G (p.Lys90Glu) single nucleotide variant not specified [RCV004125995] Chr2:15599677 [GRCh38]
Chr2:15739801 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.785C>T (p.Pro262Leu) single nucleotide variant not specified [RCV004086680] Chr2:15606232 [GRCh38]
Chr2:15746356 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.664A>G (p.Met222Val) single nucleotide variant not specified [RCV004090799] Chr2:15605988 [GRCh38]
Chr2:15746112 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.2117A>C (p.Asp706Ala) single nucleotide variant not specified [RCV004149330] Chr2:15630800 [GRCh38]
Chr2:15770924 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1427G>T (p.Arg476Ile) single nucleotide variant not specified [RCV004139114] Chr2:15621096 [GRCh38]
Chr2:15761220 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1528A>G (p.Ile510Val) single nucleotide variant not specified [RCV004075769] Chr2:15623516 [GRCh38]
Chr2:15763640 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.13T>A (p.Ser5Thr) single nucleotide variant not specified [RCV004118703] Chr2:15591946 [GRCh38]
Chr2:15732070 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.2032A>G (p.Lys678Glu) single nucleotide variant not specified [RCV004122331] Chr2:15630050 [GRCh38]
Chr2:15770174 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.564G>A (p.Met188Ile) single nucleotide variant not specified [RCV004211477] Chr2:15604448 [GRCh38]
Chr2:15744572 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.200C>T (p.Thr67Ile) single nucleotide variant not specified [RCV004145922] Chr2:15597412 [GRCh38]
Chr2:15737536 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.2178C>G (p.Phe726Leu) single nucleotide variant not specified [RCV004157933] Chr2:15630861 [GRCh38]
Chr2:15770985 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1219T>C (p.Ser407Pro) single nucleotide variant not specified [RCV004101543] Chr2:15620220 [GRCh38]
Chr2:15760344 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.938T>C (p.Ile313Thr) single nucleotide variant not specified [RCV004215699] Chr2:15607295 [GRCh38]
Chr2:15747419 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.7G>A (p.Ala3Thr) single nucleotide variant not specified [RCV004093683] Chr2:15591940 [GRCh38]
Chr2:15732064 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.2024C>T (p.Pro675Leu) single nucleotide variant not specified [RCV004162855] Chr2:15630042 [GRCh38]
Chr2:15770166 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1495C>T (p.Arg499Trp) single nucleotide variant not specified [RCV004123119] Chr2:15623483 [GRCh38]
Chr2:15763607 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1078A>T (p.Asn360Tyr) single nucleotide variant not specified [RCV004314356] Chr2:15617304 [GRCh38]
Chr2:15757428 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1622C>T (p.Ser541Leu) single nucleotide variant not specified [RCV004276483] Chr2:15627081 [GRCh38]
Chr2:15767205 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1352A>C (p.Lys451Thr) single nucleotide variant not specified [RCV004277502] Chr2:15620353 [GRCh38]
Chr2:15760477 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.545A>G (p.Tyr182Cys) single nucleotide variant not specified [RCV004268076] Chr2:15603883 [GRCh38]
Chr2:15744007 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1549A>G (p.Ile517Val) single nucleotide variant not specified [RCV004362411] Chr2:15623537 [GRCh38]
Chr2:15763661 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.424C>G (p.Gln142Glu) single nucleotide variant not specified [RCV004358196] Chr2:15603224 [GRCh38]
Chr2:15743348 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1423A>C (p.Thr475Pro) single nucleotide variant not specified [RCV004359713] Chr2:15621092 [GRCh38]
Chr2:15761216 [GRCh37]
Chr2:2p24.3		 uncertain significance
GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3 copy number gain not specified [RCV003986320] Chr2:6375088..23538518 [GRCh37]
Chr2:2p25.2-24.1		 pathogenic
GRCh37/hg19 2p24.3(chr2:12289529-16104486)x1 copy number loss not specified [RCV003986345] Chr2:12289529..16104486 [GRCh37]
Chr2:2p24.3		 pathogenic
NM_004939.3(DDX1):c.1016G>A (p.Gly339Glu) single nucleotide variant not specified [RCV004375643] Chr2:15613283 [GRCh38]
Chr2:15753407 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1084T>C (p.Ser362Pro) single nucleotide variant not specified [RCV004375645] Chr2:15617310 [GRCh38]
Chr2:15757434 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.178G>C (p.Val60Leu) single nucleotide variant not specified [RCV004375646] Chr2:15597390 [GRCh38]
Chr2:15737514 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.632A>T (p.Asp211Val) single nucleotide variant not specified [RCV004375648] Chr2:15605956 [GRCh38]
Chr2:15746080 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.736G>C (p.Glu246Gln) single nucleotide variant not specified [RCV004375649] Chr2:15606183 [GRCh38]
Chr2:15746307 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.977G>T (p.Gly326Val) single nucleotide variant not specified [RCV004375653] Chr2:15613244 [GRCh38]
Chr2:15753368 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.781G>T (p.Ala261Ser) single nucleotide variant not specified [RCV004375650] Chr2:15606228 [GRCh38]
Chr2:15746352 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.89C>A (p.Ala30Asp) single nucleotide variant not specified [RCV004375651] Chr2:15595510 [GRCh38]
Chr2:15735634 [GRCh37]
Chr2:2p24.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_004939.3(DDX1):c.1508A>T (p.Glu503Val) single nucleotide variant not specified [RCV004611574] Chr2:15623496 [GRCh38]
Chr2:15763620 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1697T>C (p.Val566Ala) single nucleotide variant not specified [RCV004611576] Chr2:15628455 [GRCh38]
Chr2:15768579 [GRCh37]
Chr2:2p24.3		 uncertain significance
NM_004939.3(DDX1):c.1161G>A (p.Met387Ile) single nucleotide variant not specified [RCV004611575] Chr2:15618225 [GRCh38]
Chr2:15758349 [GRCh37]
Chr2:2p24.3		 likely benign
NC_000002.11:g.(?_15601305)_(17362569_?)dup duplication not provided [RCV004583845] Chr2:15601305..17362569 [GRCh37]
Chr2:2p24.3-24.2		 uncertain significance
NC_000002.11:g.(?_15307172)_(17963206_?)dup duplication not provided [RCV004583812] Chr2:15307172..17963206 [GRCh37]
Chr2:2p24.3-24.2		 uncertain significance
NM_004939.3(DDX1):c.2135T>C (p.Val712Ala) single nucleotide variant not specified [RCV004611577] Chr2:15630818 [GRCh38]
Chr2:15770942 [GRCh37]
Chr2:2p24.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1260Ahsa-miR-1260aMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:683
Count of miRNA genes:499
Interacting mature miRNAs:558
Transcripts:ENST00000233084, ENST00000381341, ENST00000434671, ENST00000459706, ENST00000470674, ENST00000478695
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407327943GWAS976919_Hblood urea nitrogen measurement QTL GWAS976919 (human)2e-15blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)21559289915592900Human
407335412GWAS984388_Huric acid measurement QTL GWAS984388 (human)2e-18uric acid measurementblood uric acid level (CMO:0000501)21559289915592900Human
406946534GWAS595510_Hcreatinine measurement QTL GWAS595510 (human)2e-08creatinine measurementblood creatinine measurement (CMO:0000767)21559289915592900Human

Markers in Region
WI-7414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,771,088 - 15,771,216UniSTSGRCh37
Build 36215,688,539 - 15,688,667RGDNCBI36
Celera215,688,808 - 15,688,936RGD
Cytogenetic Map2p24UniSTS
HuRef215,622,349 - 15,622,477UniSTS
Whitehead-YAC Contig Map7 UniSTS
G20773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,771,055 - 15,771,180UniSTSGRCh37
Build 36215,688,506 - 15,688,631RGDNCBI36
Celera215,688,775 - 15,688,900RGD
Cytogenetic Map2p24UniSTS
HuRef215,622,316 - 15,622,441UniSTS
A006F40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,771,055 - 15,771,180UniSTSGRCh37
Build 36215,688,506 - 15,688,631RGDNCBI36
Celera215,688,775 - 15,688,900RGD
Cytogenetic Map2p24UniSTS
HuRef215,622,316 - 15,622,441UniSTS
GeneMap99-GB4 RH Map256.35UniSTS
NCBI RH Map267.6UniSTS
DDX1_8292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,770,902 - 15,771,425UniSTSGRCh37
Build 36215,688,353 - 15,688,876RGDNCBI36
Celera215,688,622 - 15,689,145RGD
HuRef215,622,163 - 15,622,686UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2250 4956 1724 2347 4 624 1950 465 2268 7291 6463 53 3718 1 849 1737 1614 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB593031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC360930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF418570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF418571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X70649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000233084   ⟹   ENSP00000233084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,868 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000381341   ⟹   ENSP00000370745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,178 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000434671   ⟹   ENSP00000413767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,532 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000459706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,868 - 15,622,957 (+)Ensembl
Ensembl Acc Id: ENST00000470674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,869 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000478695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,733 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000617198   ⟹   ENSP00000482416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,852 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000621973   ⟹   ENSP00000484958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,888 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000676635   ⟹   ENSP00000504060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,869 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000676759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,733 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000676916   ⟹   ENSP00000503949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,846 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000676937   ⟹   ENSP00000503720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,846 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000677302   ⟹   ENSP00000504080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,532 - 15,634,346 (+)Ensembl
Ensembl Acc Id: ENST00000677355   ⟹   ENSP00000503705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,869 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000677437   ⟹   ENSP00000504817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,868 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000677552   ⟹   ENSP00000504225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,879 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000677649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,598,496 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000678137   ⟹   ENSP00000503001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,868 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000678391   ⟹   ENSP00000503358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,906 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000678536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,733 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000678594   ⟹   ENSP00000502982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,868 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000678755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,733 - 15,631,097 (+)Ensembl
Ensembl Acc Id: ENST00000678786   ⟹   ENSP00000502926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,733 - 15,631,101 (+)Ensembl
Ensembl Acc Id: ENST00000679227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl215,591,733 - 15,631,101 (+)Ensembl
RefSeq Acc Id: NM_004939   ⟹   NP_004930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,591,868 - 15,631,101 (+)NCBI
GRCh37215,731,745 - 15,771,235 (+)NCBI
Build 36215,649,221 - 15,688,676 (+)NCBI Archive
HuRef215,583,004 - 15,622,496 (+)NCBI
CHM1_1215,661,598 - 15,701,093 (+)NCBI
T2T-CHM13v2.0215,623,489 - 15,662,692 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004930 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12132 (Get FASTA)   NCBI Sequence Viewer  
  AAH53673 (Get FASTA)   NCBI Sequence Viewer  
  ABN70940 (Get FASTA)   NCBI Sequence Viewer  
  ABN70941 (Get FASTA)   NCBI Sequence Viewer  
  BAG36652 (Get FASTA)   NCBI Sequence Viewer  
  BAG59860 (Get FASTA)   NCBI Sequence Viewer  
  BAG60482 (Get FASTA)   NCBI Sequence Viewer  
  BAG60648 (Get FASTA)   NCBI Sequence Viewer  
  BAJ83985 (Get FASTA)   NCBI Sequence Viewer  
  BAJ83986 (Get FASTA)   NCBI Sequence Viewer  
  BAJ83987 (Get FASTA)   NCBI Sequence Viewer  
  BAJ83988 (Get FASTA)   NCBI Sequence Viewer  
  CAA49992 (Get FASTA)   NCBI Sequence Viewer  
  EAX00894 (Get FASTA)   NCBI Sequence Viewer  
  EAX00895 (Get FASTA)   NCBI Sequence Viewer  
  EAX00896 (Get FASTA)   NCBI Sequence Viewer  
  EAX00897 (Get FASTA)   NCBI Sequence Viewer  
  EAX00898 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000233084
  ENSP00000233084.3
  ENSP00000370745.1
  ENSP00000413767
  ENSP00000413767.2
  ENSP00000482416.2
  ENSP00000484958.2
  ENSP00000502926.1
  ENSP00000502982.1
  ENSP00000503001.1
  ENSP00000503358.1
  ENSP00000503705.1
  ENSP00000503720.1
  ENSP00000503949.1
  ENSP00000504060.1
  ENSP00000504080.1
  ENSP00000504225.1
  ENSP00000504817.1
GenBank Protein Q92499 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004930   ⟸   NM_004939
- UniProtKB: B4DME8 (UniProtKB/Swiss-Prot),   B4DPN6 (UniProtKB/Swiss-Prot),   Q92499 (UniProtKB/Swiss-Prot),   A3RJH1 (UniProtKB/TrEMBL),   A0A7I2V4F0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000484958   ⟸   ENST00000621973
Ensembl Acc Id: ENSP00000233084   ⟸   ENST00000233084
Ensembl Acc Id: ENSP00000482416   ⟸   ENST00000617198
Ensembl Acc Id: ENSP00000413767   ⟸   ENST00000434671
Ensembl Acc Id: ENSP00000370745   ⟸   ENST00000381341
Ensembl Acc Id: ENSP00000503949   ⟸   ENST00000676916
Ensembl Acc Id: ENSP00000503720   ⟸   ENST00000676937
Ensembl Acc Id: ENSP00000504060   ⟸   ENST00000676635
Ensembl Acc Id: ENSP00000504225   ⟸   ENST00000677552
Ensembl Acc Id: ENSP00000504817   ⟸   ENST00000677437
Ensembl Acc Id: ENSP00000503705   ⟸   ENST00000677355
Ensembl Acc Id: ENSP00000504080   ⟸   ENST00000677302
Ensembl Acc Id: ENSP00000503358   ⟸   ENST00000678391
Ensembl Acc Id: ENSP00000503001   ⟸   ENST00000678137
Ensembl Acc Id: ENSP00000502926   ⟸   ENST00000678786
Ensembl Acc Id: ENSP00000502982   ⟸   ENST00000678594
Protein Domains
B30.2/SPRY   DEAD-box RNA helicase Q   DEAD/DEAH box helicase   Helicase ATP-binding   Helicase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92499-F1-model_v2 AlphaFold Q92499 1-740 view protein structure

Promoters
RGD ID:6859674
Promoter ID:EPDNEW_H3002
Type:initiation region
Name:DDX1_1
Description:DEAD-box helicase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,591,868 - 15,591,928EPDNEW
RGD ID:6797176
Promoter ID:HG_KWN:31590
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381341,   NM_004939,   OTTHUMT00000323657
Position:
Human AssemblyChrPosition (strand)Source
Build 36215,649,161 - 15,649,661 (+)MPROMDB
RGD ID:6853396
Promoter ID:EP74523
Type:initiation region
Name:HS_DDX1
Description:DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36215,649,456 - 15,649,516EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2734 AgrOrtholog
COSMIC DDX1 COSMIC
Ensembl Genes ENSG00000079785 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000233084 ENTREZGENE
  ENST00000233084.8 UniProtKB/Swiss-Prot
  ENST00000381341.7 UniProtKB/Swiss-Prot
  ENST00000434671 UniProtKB/TrEMBL
  ENST00000434671.2 UniProtKB/Swiss-Prot
  ENST00000617198.5 UniProtKB/TrEMBL
  ENST00000621973.2 UniProtKB/TrEMBL
  ENST00000676635.1 UniProtKB/TrEMBL
  ENST00000676916.1 UniProtKB/TrEMBL
  ENST00000676937.1 UniProtKB/TrEMBL
  ENST00000677302.1 UniProtKB/Swiss-Prot
  ENST00000677355.1 UniProtKB/TrEMBL
  ENST00000677437.1 UniProtKB/TrEMBL
  ENST00000677552.1 UniProtKB/TrEMBL
  ENST00000678137.1 UniProtKB/TrEMBL
  ENST00000678391.1 UniProtKB/TrEMBL
  ENST00000678594.1 UniProtKB/TrEMBL
  ENST00000678786.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000079785 GTEx
HGNC ID HGNC:2734 ENTREZGENE
Human Proteome Map DDX1 Human Proteome Map
InterPro B30.2/SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B30.2/SPRY_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf 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
  RNA_helicase_DEAD_Q_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1653 ENTREZGENE
OMIM 601257 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE DBP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE DDX1 UniProtKB/Swiss-Prot
  ATP-DEPENDENT RNA HELICASE DDX1 UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE DDX1 UniProtKB/TrEMBL
  B30.2/SPRY DOMAIN-CONTAINING PROTEIN-RELATED UniProtKB/TrEMBL
  HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U FAMILY MEMBER UniProtKB/TrEMBL
  RNA HELICASE UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27199 PharmGKB
PROSITE B302_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Q_MOTIF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZ71_HUMAN UniProtKB/TrEMBL
  A0A087X2G1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2M5_HUMAN UniProtKB/TrEMBL
  A0A7I2V421_HUMAN UniProtKB/TrEMBL
  A0A7I2V430_HUMAN UniProtKB/TrEMBL
  A0A7I2V4F0 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4J3_HUMAN UniProtKB/TrEMBL
  A0A7I2V4Q0_HUMAN UniProtKB/TrEMBL
  A0A7I2V5X8_HUMAN UniProtKB/TrEMBL
  A0A7I2YQ77_HUMAN UniProtKB/TrEMBL
  A0A7I2YQD0_HUMAN UniProtKB/TrEMBL
  A3RJH1 ENTREZGENE, UniProtKB/TrEMBL
  B4DME8 ENTREZGENE
  B4DPN6 ENTREZGENE
  C9JLP0_HUMAN UniProtKB/TrEMBL
  DDX1_HUMAN UniProtKB/Swiss-Prot
  F1T0B3_HUMAN UniProtKB/TrEMBL
  Q92499 ENTREZGENE
UniProt Secondary B4DME8 UniProtKB/Swiss-Prot
  B4DPN6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-04 DDX1  DEAD-box helicase 1  DDX1  DEAD/H-box helicase 1  Symbol and/or name change 5135510 APPROVED
2016-01-12 DDX1  DEAD/H-box helicase 1  DDX1  DEAD (Asp-Glu-Ala-Asp) box helicase 1  Symbol and/or name change 5135510 APPROVED
2012-03-01 DDX1  DEAD (Asp-Glu-Ala-Asp) box helicase 1  DDX1  DEAD (Asp-Glu-Ala-Asp) box polypeptide 1  Symbol and/or name change 5135510 APPROVED