DDX17 (DEAD-box helicase 17) - Rat Genome Database

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Gene: DDX17 (DEAD-box helicase 17) Homo sapiens
Analyze
Symbol: DDX17
Name: DEAD-box helicase 17
RGD ID: 1312679
HGNC Page HGNC:2740
Description: Enables transcription coactivator activity. Involved in several processes, including RNA metabolic process; intracellular steroid hormone receptor signaling pathway; and regulation of RNA metabolic process. Located in nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEAD (Asp-Glu-Ala-Asp) box helicase 17; DEAD (Asp-Glu-Ala-Asp) box polypeptide 17; DEAD box protein 17; DEAD box protein p72; DEAD box protein p82; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD); DEAD/H box 17; DKFZp761H2016; P72; p72 RNA helicase; probable ATP-dependent RNA helicase DDX17; RH70; RNA-dependent helicase p72
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,483,438 - 38,506,311 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,483,438 - 38,507,660 (-)EnsemblGRCh38hg38GRCh38
GRCh372238,879,443 - 38,902,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,209,389 - 37,232,291 (-)NCBINCBI36Build 36hg18NCBI36
Build 342237,203,942 - 37,209,466NCBI
Celera2222,685,022 - 22,707,930 (-)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,845,483 - 21,868,386 (-)NCBIHuRef
CHM1_12238,838,236 - 38,861,132 (-)NCBICHM1_1
T2T-CHM13v2.02238,947,707 - 38,970,570 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amiodarone  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
Cuprizon  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
fenthion  (ISO)
fenvalerate  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
geldanamycin  (EXP)
gentamycin  (ISO)
graphene oxide  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
ifosfamide  (EXP)
indometacin  (EXP)
inulin  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nefazodone  (ISO)
nickel atom  (ISO)
nickel dichloride  (EXP)
nickel sulfate  (ISO)
nicotine  (EXP)
nimesulide  (ISO)
okadaic acid  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetraphene  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IEA)
membrane  (HDA)
nuclear speck  (IDA)
nucleolus  (IEA)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA,TAS)
ribonucleoprotein complex  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8871553   PMID:9110174   PMID:9747670   PMID:10591208   PMID:11675387   PMID:12138182   PMID:12171929   PMID:12193588   PMID:12477932   PMID:12595555   PMID:12738788  
PMID:14559993   PMID:15298701   PMID:15324660   PMID:15342556   PMID:15461802   PMID:15489334   PMID:15635413   PMID:15660129   PMID:15848144   PMID:16009940   PMID:16055720   PMID:16189514  
PMID:16196087   PMID:16344560   PMID:16611982   PMID:16964243   PMID:17011493   PMID:17226766   PMID:17332742   PMID:17643375   PMID:17699760   PMID:17765891   PMID:18005418   PMID:18247557  
PMID:18279852   PMID:18334637   PMID:18457437   PMID:19059367   PMID:19322201   PMID:19394292   PMID:19531213   PMID:19718048   PMID:19738201   PMID:19902070   PMID:19928837   PMID:19946888  
PMID:19995069   PMID:20020773   PMID:20080577   PMID:20085707   PMID:20348541   PMID:20360068   PMID:20467437   PMID:20508642   PMID:20663877   PMID:20890123   PMID:21081503   PMID:21081666  
PMID:21139048   PMID:21145461   PMID:21150319   PMID:21182205   PMID:21280222   PMID:21319273   PMID:21549307   PMID:21679440   PMID:21832049   PMID:21873635   PMID:21876179   PMID:21890473  
PMID:21900255   PMID:21906983   PMID:21907836   PMID:21942715   PMID:21963094   PMID:21987572   PMID:22053931   PMID:22113938   PMID:22174317   PMID:22266867   PMID:22268729   PMID:22305495  
PMID:22354994   PMID:22365833   PMID:22407013   PMID:22446626   PMID:22505724   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22863883   PMID:22939629   PMID:22944692  
PMID:22963397   PMID:23000965   PMID:23022380   PMID:23022728   PMID:23084401   PMID:23125841   PMID:23254330   PMID:23443559   PMID:23463506   PMID:23608157   PMID:23769241   PMID:23825951  
PMID:24140279   PMID:24189400   PMID:24244333   PMID:24275493   PMID:24332808   PMID:24457600   PMID:24550385   PMID:24581491   PMID:24583282   PMID:24639526   PMID:24654937   PMID:24711643  
PMID:24725430   PMID:24816145   PMID:24910439   PMID:24965446   PMID:24999758   PMID:25015289   PMID:25036637   PMID:25071155   PMID:25126784   PMID:25324306   PMID:25416956   PMID:25437307  
PMID:25496916   PMID:25604459   PMID:25701821   PMID:25720964   PMID:25756610   PMID:25798074   PMID:25921289   PMID:25963833   PMID:26030138   PMID:26170170   PMID:26184334   PMID:26209609  
PMID:26312911   PMID:26344197   PMID:26362536   PMID:26420826   PMID:26496610   PMID:26511642   PMID:26569340   PMID:26641092   PMID:26673895   PMID:26760575   PMID:26816005   PMID:26831064  
PMID:26871637   PMID:26979993   PMID:26996669   PMID:27025967   PMID:27107014   PMID:27173435   PMID:27301285   PMID:27478153   PMID:27503909   PMID:27507811   PMID:27545878   PMID:27578003  
PMID:27591049   PMID:27609421   PMID:27684187   PMID:27956147   PMID:27976729   PMID:28225217   PMID:28259822   PMID:28302793   PMID:28380382   PMID:28416769   PMID:28443643   PMID:28514442  
PMID:28515276   PMID:28533407   PMID:28561026   PMID:28673556   PMID:28712289   PMID:28902428   PMID:28977666   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29395067   PMID:29467282  
PMID:29507755   PMID:29511296   PMID:29777862   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29884807   PMID:29931089   PMID:29955894   PMID:30021884   PMID:30209976   PMID:30217970  
PMID:30274258   PMID:30320910   PMID:30344098   PMID:30425250   PMID:30459231   PMID:30462309   PMID:30463901   PMID:30542119   PMID:30554943   PMID:30575818   PMID:30585729   PMID:30591054  
PMID:30699358   PMID:30737378   PMID:30745168   PMID:30792309   PMID:30804502   PMID:30877109   PMID:30890647   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31010829   PMID:31048545  
PMID:31059266   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31253590   PMID:31300519   PMID:31409639   PMID:31501420   PMID:31586073   PMID:31623628   PMID:31653828   PMID:31980649  
PMID:31995728   PMID:32008867   PMID:32041737   PMID:32065632   PMID:32129710   PMID:32141542   PMID:32296183   PMID:32463358   PMID:32529326   PMID:32552912   PMID:32665550   PMID:32683582  
PMID:32687490   PMID:32698014   PMID:32780723   PMID:32786267   PMID:32788342   PMID:32807901   PMID:32814053   PMID:32904557   PMID:32924931   PMID:32929329   PMID:32994395   PMID:33005030  
PMID:33022573   PMID:33024031   PMID:33239621   PMID:33301849   PMID:33306668   PMID:33545068   PMID:33567341   PMID:33644029   PMID:33658012   PMID:33742100   PMID:33838681   PMID:33916271  
PMID:33961781   PMID:34061233   PMID:34079125   PMID:34091597   PMID:34133714   PMID:34189442   PMID:34226595   PMID:34244482   PMID:34244791   PMID:34287051   PMID:34349018   PMID:34428256  
PMID:34445801   PMID:34462429   PMID:34537242   PMID:34551306   PMID:34626132   PMID:34650049   PMID:34709727   PMID:34728620   PMID:34857952   PMID:34901782   PMID:35013218   PMID:35031058  
PMID:35235311   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35446349   PMID:35509820   PMID:35546148   PMID:35563538   PMID:35583604   PMID:35652658   PMID:35676246   PMID:35676659  
PMID:35785414   PMID:35819319   PMID:35831314   PMID:35844135   PMID:35850772   PMID:35896951   PMID:35906200   PMID:35944360   PMID:35973989   PMID:36042349   PMID:36057605   PMID:36114006  
PMID:36164607   PMID:36168627   PMID:36180891   PMID:36199071   PMID:36200807   PMID:36215168   PMID:36243803   PMID:36261009   PMID:36266428   PMID:36273042   PMID:36282215   PMID:36373674  
PMID:36385375   PMID:36424410   PMID:36453994   PMID:36470425   PMID:36490346   PMID:36517590   PMID:36526897   PMID:36537216   PMID:36574265   PMID:36593242   PMID:36634849   PMID:36995092  
PMID:37616343   PMID:37689310   PMID:37720188   PMID:37827155   PMID:38113892   PMID:38172120   PMID:38494770  


Genomics

Comparative Map Data
DDX17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,483,438 - 38,506,311 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,483,438 - 38,507,660 (-)EnsemblGRCh38hg38GRCh38
GRCh372238,879,443 - 38,902,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,209,389 - 37,232,291 (-)NCBINCBI36Build 36hg18NCBI36
Build 342237,203,942 - 37,209,466NCBI
Celera2222,685,022 - 22,707,930 (-)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,845,483 - 21,868,386 (-)NCBIHuRef
CHM1_12238,838,236 - 38,861,132 (-)NCBICHM1_1
T2T-CHM13v2.02238,947,707 - 38,970,570 (-)NCBIT2T-CHM13v2.0
Ddx17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391579,411,897 - 79,430,976 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1579,411,937 - 79,430,942 (-)EnsemblGRCm39 Ensembl
GRCm381579,527,696 - 79,546,764 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,527,736 - 79,546,741 (-)EnsemblGRCm38mm10GRCm38
MGSCv371579,358,126 - 79,377,171 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361579,354,991 - 79,373,814 (-)NCBIMGSCv36mm8
Celera1581,652,214 - 81,671,297 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.77NCBI
Ddx17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87112,971,522 - 112,989,747 (-)NCBIGRCr8
mRatBN7.27111,091,127 - 111,109,353 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7111,089,445 - 111,109,193 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7112,838,716 - 112,856,990 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07115,062,251 - 115,080,524 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07115,031,624 - 115,049,898 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07120,761,843 - 120,765,012 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7120,761,826 - 120,780,641 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07120,754,842 - 120,758,011 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47117,552,040 - 117,554,887 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17117,570,607 - 117,591,584 (+)NCBI
Celera7107,422,522 - 107,425,390 (-)NCBICelera
Cytogenetic Map7q34NCBI
Ddx17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541324,646,320 - 24,664,614 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541324,646,317 - 24,664,614 (-)NCBIChiLan1.0ChiLan1.0
DDX17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22348,339,405 - 48,363,355 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12251,030,869 - 51,055,784 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02219,398,801 - 19,421,587 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12237,218,884 - 37,241,430 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2237,218,884 - 37,241,425 (-)Ensemblpanpan1.1panPan2
DDX17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11026,282,592 - 26,303,128 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1026,282,598 - 26,301,633 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1026,237,306 - 26,258,327 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01027,073,043 - 27,094,074 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1027,072,471 - 27,094,071 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11026,794,780 - 26,815,505 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01027,105,990 - 27,127,019 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01027,282,715 - 27,303,747 (+)NCBIUU_Cfam_GSD_1.0
Ddx17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049459,796,194 - 9,815,657 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364922,806,516 - 2,827,181 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364922,806,630 - 2,826,071 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl59,485,702 - 9,505,157 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.159,485,792 - 9,505,157 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.256,766,508 - 6,783,741 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DDX17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11921,145,576 - 21,167,091 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1921,145,417 - 21,167,543 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045104,598,872 - 104,623,267 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ddx17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247529,602,447 - 9,620,575 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247529,602,267 - 9,620,770 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DDX17
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|See cases [RCV000051366] Chr22:36859030..39236985 [GRCh38]
Chr22:37255072..39632990 [GRCh37]
Chr22:35585018..37962936 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 copy number loss See cases [RCV000051367] Chr22:37721777..38886664 [GRCh38]
Chr22:38117784..39282669 [GRCh37]
Chr22:36447730..37612615 [NCBI36]
Chr22:22q13.1
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_001098504.1(DDX17):c.382C>T (p.Pro128Ser) single nucleotide variant Malignant melanoma [RCV000063911] Chr22:38501186 [GRCh38]
Chr22:38897191 [GRCh37]
Chr22:37227137 [NCBI36]
Chr22:22q13.1
not provided
NM_001098504.1(DDX17):c.381C>T (p.Leu127=) single nucleotide variant Malignant melanoma [RCV000063912] Chr22:38501187 [GRCh38]
Chr22:38897192 [GRCh37]
Chr22:37227138 [NCBI36]
Chr22:22q13.1
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 copy number loss See cases [RCV000141783] Chr22:37447222..39103680 [GRCh38]
Chr22:37843259..39499685 [GRCh37]
Chr22:36173205..37829631 [NCBI36]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1(chr22:38322968-38965458) copy number gain See cases [RCV000447478] Chr22:38322968..38965458 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q13.1(chr22:38871571-39704938)x1 copy number loss See cases [RCV000446194] Chr22:38871571..39704938 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 copy number loss See cases [RCV000511673] Chr22:37866631..39054815 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1 copy number loss See cases [RCV001007404] Chr22:38431917..39392250 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q13.1(chr22:38838246-39260032)x1 copy number loss See cases [RCV000790565] Chr22:38838246..39260032 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_006386.5(DDX17):c.2103G>A (p.Pro701=) single nucleotide variant not provided [RCV000958219] Chr22:38486022 [GRCh38]
Chr22:38882027 [GRCh37]
Chr22:22q13.1
benign
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1 copy number loss not provided [RCV001007501] Chr22:38002218..38973070 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_37154355)_(39148633_?)del deletion Emery-Dreifuss muscular dystrophy [RCV003122557]|Infantile neuroaxonal dystrophy [RCV003122556]|Myoclonic dystonia 26 [RCV003107333] Chr22:37154355..39148633 [GRCh37]
Chr22:22q12.3-13.1
pathogenic|uncertain significance
NM_006386.5(DDX17):c.776A>G (p.Gln259Arg) single nucleotide variant not provided [RCV001825248] Chr22:38495900 [GRCh38]
Chr22:38891905 [GRCh37]
Chr22:22q13.1
not provided
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2
uncertain significance
NC_000022.10:g.(?_38097373)_(39306081_?)del deletion not provided [RCV003122369] Chr22:38097373..39306081 [GRCh37]
Chr22:22q13.1
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR378Chsa-miR-378cMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR145hsa-miR-145-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI22876303

Predicted Target Of
Summary Value
Count of predictions:4407
Count of miRNA genes:1101
Interacting mature miRNAs:1364
Transcripts:ENST00000216019, ENST00000381633, ENST00000396821, ENST00000403230, ENST00000431312, ENST00000432525, ENST00000444597, ENST00000467279, ENST00000475004, ENST00000477112, ENST00000479734, ENST00000497196
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.

Markers in Region
D22S314E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,556 - 38,879,734UniSTSGRCh37
Build 362237,209,502 - 37,209,680RGDNCBI36
Celera2222,685,135 - 22,685,313RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,845,596 - 21,845,774UniSTS
GeneMap99-G3 RH Map221204.0UniSTS
D22S292E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,885,939 - 38,886,019UniSTSGRCh37
GRCh372238,885,939 - 38,886,106UniSTSGRCh37
GRCh372238,885,930 - 38,886,032UniSTSGRCh37
Build 362237,215,885 - 37,215,965RGDNCBI36
Celera2222,691,508 - 22,691,610UniSTS
Celera2222,691,517 - 22,691,684UniSTS
Celera2222,691,517 - 22,691,597RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,851,978 - 21,852,145UniSTS
HuRef2221,851,978 - 21,852,058UniSTS
HuRef2221,851,969 - 21,852,071UniSTS
Stanford-G3 RH Map221195.0UniSTS
NCBI RH Map22167.5UniSTS
GeneMap99-G3 RH Map221195.0UniSTS
STS-N22684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,988 - 38,880,253UniSTSGRCh37
Build 362237,209,934 - 37,210,199RGDNCBI36
Celera2222,685,567 - 22,685,832RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,846,028 - 21,846,293UniSTS
GeneMap99-GB4 RH Map22113.89UniSTS
RH76347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,880,490 - 38,880,672UniSTSGRCh37
Build 362237,210,436 - 37,210,618RGDNCBI36
Celera2222,686,069 - 22,686,251RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,846,530 - 21,846,712UniSTS
RH28487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,542 - 38,879,673UniSTSGRCh37
Build 362237,209,488 - 37,209,619RGDNCBI36
Celera2222,685,121 - 22,685,252RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,845,582 - 21,845,713UniSTS
SHGC-132664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,880,515 - 38,880,808UniSTSGRCh37
Build 362237,210,461 - 37,210,754RGDNCBI36
Celera2222,686,094 - 22,686,387RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,846,555 - 21,846,848UniSTS
TNG Radiation Hybrid Map229214.0UniSTS
D22S996E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,558 - 38,879,674UniSTSGRCh37
Build 362237,209,504 - 37,209,620RGDNCBI36
Celera2222,685,137 - 22,685,253RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,845,598 - 21,845,714UniSTS
GeneMap99-GB4 RH Map22114.28UniSTS
D22S1255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,470 - 38,879,694UniSTSGRCh37
Build 362237,209,416 - 37,209,640RGDNCBI36
Celera2222,685,049 - 22,685,273RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,845,510 - 21,845,734UniSTS
GeneMap99-GB4 RH Map22130.93UniSTS
Whitehead-RH Map22130.9UniSTS
SHGC-37043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,880,486 - 38,880,635UniSTSGRCh37
Build 362237,210,432 - 37,210,581RGDNCBI36
Celera2222,686,065 - 22,686,214RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,846,526 - 21,846,675UniSTS
Stanford-G3 RH Map221204.0UniSTS
NCBI RH Map22170.8UniSTS
GeneMap99-G3 RH Map221204.0UniSTS
D22S1199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,488 - 38,879,599UniSTSGRCh37
Build 362237,209,434 - 37,209,545RGDNCBI36
Celera2222,685,067 - 22,685,178RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,845,528 - 21,845,639UniSTS
GeneMap99-GB4 RH Map22133.15UniSTS
Whitehead-RH Map22136.3UniSTS
A007C15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,881,763 - 38,881,954UniSTSGRCh37
Build 362237,211,709 - 37,211,900RGDNCBI36
Celera2222,687,340 - 22,687,532RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,847,801 - 21,847,993UniSTS
GeneMap99-GB4 RH Map22113.89UniSTS
STS-W80852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,195 - 38,879,353UniSTSGRCh37
Build 362237,209,141 - 37,209,299RGDNCBI36
Celera2222,684,774 - 22,684,932RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,845,235 - 21,845,393UniSTS
GeneMap99-GB4 RH Map22134.57UniSTS
1574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,879,528 - 38,879,598UniSTSGRCh37
Build 362237,209,474 - 37,209,544RGDNCBI36
Celera2222,685,107 - 22,685,177RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,845,568 - 21,845,638UniSTS
GeneMap99-GB4 RH Map22131.33UniSTS
G29202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,887,382 - 38,887,529UniSTSGRCh37
Build 362237,217,328 - 37,217,475RGDNCBI36
Celera2222,692,960 - 22,693,107RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,853,421 - 21,853,568UniSTS
A004C33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,886,331 - 38,886,499UniSTSGRCh37
Build 362237,216,277 - 37,216,445RGDNCBI36
Celera2222,691,909 - 22,692,077RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,852,370 - 21,852,538UniSTS
GeneMap99-GB4 RH Map22134.59UniSTS
G20426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,887,464 - 38,887,576UniSTSGRCh37
Build 362237,217,410 - 37,217,522RGDNCBI36
Celera2222,693,042 - 22,693,154RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,853,503 - 21,853,615UniSTS
A005Q45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,887,464 - 38,887,576UniSTSGRCh37
Build 362237,217,410 - 37,217,522RGDNCBI36
Celera2222,693,042 - 22,693,154RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,853,503 - 21,853,615UniSTS
GeneMap99-GB4 RH Map22113.89UniSTS
DDX17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,882,038 - 38,882,241UniSTSGRCh37
Celera2222,687,616 - 22,687,819UniSTS
HuRef2221,848,077 - 21,848,280UniSTS
D22S292E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.1UniSTS
Stanford-G3 RH Map221195.0UniSTS
NCBI RH Map22167.5UniSTS
GeneMap99-G3 RH Map221195.0UniSTS
D22S292E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.1UniSTS


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 2 4 86 59 41 48 2 42 83 41
Medium 2430 2979 1637 622 1888 464 4314 2193 3661 416 1407 1525 171 1204 2747 4
Low 5 6 3 2 3 1 1 4 23 1 8 4 4 1 1 2
Below cutoff 1 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA765457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU130891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI545691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP353248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB215934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000216019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,485,681 - 38,506,294 (-)Ensembl
RefSeq Acc Id: ENST00000396821   ⟹   ENSP00000380033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,483,440 - 38,506,337 (-)Ensembl
RefSeq Acc Id: ENST00000403230   ⟹   ENSP00000385536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,483,438 - 38,506,311 (-)Ensembl
RefSeq Acc Id: ENST00000431312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,485,677 - 38,488,961 (-)Ensembl
RefSeq Acc Id: ENST00000432525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,490,313 - 38,507,660 (-)Ensembl
RefSeq Acc Id: ENST00000467279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,498,553 - 38,505,901 (-)Ensembl
RefSeq Acc Id: ENST00000475004   ⟹   ENSP00000489029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,488,026 - 38,493,771 (-)Ensembl
RefSeq Acc Id: ENST00000477112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,494,310 - 38,495,046 (-)Ensembl
RefSeq Acc Id: ENST00000479734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,505,165 - 38,506,306 (-)Ensembl
RefSeq Acc Id: ENST00000497196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,493,361 - 38,495,046 (-)Ensembl
RefSeq Acc Id: NM_001098504   ⟹   NP_001091974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,483,438 - 38,506,311 (-)NCBI
GRCh372238,879,443 - 38,903,622 (-)NCBI
Build 362237,209,389 - 37,232,291 (-)NCBI Archive
HuRef2221,845,483 - 21,868,386 (-)ENTREZGENE
CHM1_12238,838,236 - 38,861,132 (-)NCBI
T2T-CHM13v2.02238,947,707 - 38,970,570 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006386   ⟹   NP_006377
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,483,438 - 38,506,311 (-)NCBI
GRCh372238,879,443 - 38,903,622 (-)NCBI
Build 362237,209,389 - 37,232,291 (-)NCBI Archive
HuRef2221,845,483 - 21,868,386 (-)ENTREZGENE
CHM1_12238,838,236 - 38,861,132 (-)NCBI
T2T-CHM13v2.02238,947,707 - 38,970,570 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006377   ⟸   NM_006386
- Peptide Label: isoform 1
- UniProtKB: Q69YT1 (UniProtKB/Swiss-Prot),   H3BLZ8 (UniProtKB/Swiss-Prot),   B1AHM0 (UniProtKB/Swiss-Prot),   Q6ICD6 (UniProtKB/Swiss-Prot),   Q92841 (UniProtKB/Swiss-Prot),   A0A1X7SBZ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001091974   ⟸   NM_001098504
- Peptide Label: isoform 3
- UniProtKB: A0A5H1ZRQ2 (UniProtKB/TrEMBL),   A0A1X7SBZ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000385536   ⟸   ENST00000403230
RefSeq Acc Id: ENSP00000489029   ⟸   ENST00000475004
RefSeq Acc Id: ENSP00000380033   ⟸   ENST00000396821
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92841-F1-model_v2 AlphaFold Q92841 1-729 view protein structure

Promoters
RGD ID:6815449
Promoter ID:HG_MRA:10550
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:AL080113,   BC045747,   CR591397,   CR608668,   CR620697,   CR625919,   CU674289
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,210,989 - 37,211,489 (-)MPROMDB
RGD ID:6799804
Promoter ID:HG_KWN:42818
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_030881,   UC010GXP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,213,941 - 37,218,122 (-)MPROMDB
RGD ID:6799806
Promoter ID:HG_KWN:42819
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000321889
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,219,921 - 37,220,522 (-)MPROMDB
RGD ID:6799807
Promoter ID:HG_KWN:42820
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000321482,   OTTHUMT00000321483
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,220,871 - 37,221,702 (-)MPROMDB
RGD ID:6799874
Promoter ID:HG_KWN:42821
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:ENST00000381633,   ENST00000404499,   NM_001098504,   NM_006386,   OTTHUMT00000321478,   OTTHUMT00000321479,   OTTHUMT00000321481
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,231,571 - 37,232,807 (-)MPROMDB
RGD ID:6850494
Promoter ID:EP73038
Type:multiple initiation site
Name:HS_DDX17
Description:DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17, 72kDa ,transcript variant 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,232,259 - 37,232,319EPD
RGD ID:6799805
Promoter ID:HG_KWN:42822
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000321480
Position:
Human AssemblyChrPosition (strand)Source
Build 362237,233,156 - 37,233,656 (-)MPROMDB
RGD ID:13604064
Promoter ID:EPDNEW_H28216
Type:initiation region
Name:DDX17_1
Description:DEAD-box helicase 17
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
GRCh382238,506,311 - 38,506,371EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2740 AgrOrtholog
COSMIC DDX17 COSMIC
Ensembl Genes ENSG00000100201 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000396821 ENTREZGENE
  ENST00000396821.8 UniProtKB/TrEMBL
  ENST00000403230 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000403230.3 UniProtKB/Swiss-Prot
  ENST00000475004.6 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100201 GTEx
HGNC ID HGNC:2740 ENTREZGENE
Human Proteome Map DDX17 Human Proteome Map
InterPro DDX17_ATP-bd-dom 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-box_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_helicase_DEAD_Q_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10521 UniProtKB/Swiss-Prot
NCBI Gene 10521 ENTREZGENE
OMIM 608469 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE DBP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE DDX17-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27206 PharmGKB
PROSITE DEAD_ATP_HELICASE 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
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQJ0_HUMAN UniProtKB/TrEMBL
  A0A1X7SBZ2 ENTREZGENE, UniProtKB/TrEMBL
  A0A5H1ZRQ2 ENTREZGENE, UniProtKB/TrEMBL
  B1AHM0 ENTREZGENE
  DDX17_HUMAN UniProtKB/Swiss-Prot
  H3BLZ8 ENTREZGENE
  Q59F66_HUMAN UniProtKB/TrEMBL
  Q69YT1 ENTREZGENE
  Q6ICD6 ENTREZGENE
  Q92841 ENTREZGENE
UniProt Secondary B1AHM0 UniProtKB/Swiss-Prot
  H3BLZ8 UniProtKB/Swiss-Prot
  Q69YT1 UniProtKB/Swiss-Prot
  Q6ICD6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 DDX17  DEAD-box helicase 17  DDX17  DEAD (Asp-Glu-Ala-Asp) box helicase 17  Symbol and/or name change 5135510 APPROVED
2012-03-01 DDX17  DEAD (Asp-Glu-Ala-Asp) box helicase 17  DDX17  DEAD (Asp-Glu-Ala-Asp) box polypeptide 17  Symbol and/or name change 5135510 APPROVED