DHX36 (DEAH-box helicase 36) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DHX36 (DEAH-box helicase 36) Homo sapiens
Analyze
Symbol: DHX36
Name: DEAH-box helicase 36
RGD ID: 1318732
HGNC Page HGNC:14410
Description: Enables helicase activity; magnesium ion binding activity; and nucleic acid binding activity. Involved in several processes, including G-quadruplex DNA unwinding; positive regulation of nucleobase-containing compound metabolic process; and regulation of gene expression. Located in several cellular components, including chromosome, telomeric region; cytoplasmic stress granule; and nuclear speck.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATP-dependent DNA/RNA helicase DHX36; ATP-dependent RNA helicase DHX36; DDX36; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36; DEAD/H box polypeptide 36; DEAH (Asp-Glu-Ala-His) box polypeptide 36; DEAH box protein 36; G4 resolvase-1; G4-resolvase 1; G4R1; KIAA1488; MLE-like protein 1; MLEL1; probable ATP-dependent RNA helicase DHX36; RHAU; RNA helicase associated with AU-rich element ARE
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
GRCh383154,272,546 - 154,324,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3154,272,546 - 154,324,487 (-)EnsemblGRCh38hg38GRCh38
GRCh373153,990,335 - 154,042,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363155,476,152 - 155,524,971 (-)NCBINCBI36Build 36hg18NCBI36
Build 343155,476,159 - 155,524,973NCBI
Celera3152,414,134 - 152,462,946 (-)NCBICelera
Cytogenetic Map3q25.2NCBI
HuRef3151,388,213 - 151,437,233 (-)NCBIHuRef
CHM1_13153,956,666 - 154,005,426 (-)NCBICHM1_1
T2T-CHM13v2.03157,046,825 - 157,098,745 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
Dibutyl phosphate  (EXP)
disodium selenite  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
haloperidol  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylparaben  (EXP)
miconazole  (ISO)
nicotine  (ISO)
oxaliplatin  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sulindac  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
3'-UTR-mediated mRNA destabilization  (IMP)
cell differentiation  (IEA)
cellular response to arsenite ion  (IDA)
cellular response to heat  (IDA)
cellular response to UV  (IMP)
chromatin looping  (IEA)
chromatin remodeling  (IEA)
defense response to virus  (IEA)
DNA duplex unwinding  (IEA)
G-quadruplex DNA unwinding  (IDA,IEA)
innate immune response  (IEA)
negative regulation of translation  (IDA)
ossification  (IEA,ISS)
positive regulation of canonical NF-kappaB signal transduction  (IEA,ISS)
positive regulation of cardioblast differentiation  (IEA,ISS)
positive regulation of cytoplasmic translation  (IMP)
positive regulation of dendritic spine morphogenesis  (IEA,ISS)
positive regulation of gene expression  (IEA,ISS)
positive regulation of hematopoietic progenitor cell differentiation  (IEA,ISS)
positive regulation of interferon-alpha production  (IMP)
positive regulation of intracellular mRNA localization  (IEA,ISS)
positive regulation of mRNA 3'-end processing  (IMP)
positive regulation of myeloid dendritic cell cytokine production  (IEA)
positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay  (IMP)
positive regulation of telomere maintenance  (IMP)
positive regulation of telomere maintenance via telomere lengthening  (IMP)
positive regulation of transcription by RNA polymerase II  (IEA,ISS)
positive regulation of transcription initiation by RNA polymerase II  (IMP)
regulation of embryonic development  (IEA,ISS)
regulation of mRNA stability  (IMP)
regulation of transcription by RNA polymerase III  (IMP)
regulation of translation  (IEA)
response to exogenous dsRNA  (IEA,ISO)
response to virus  (IEA,ISO)
RNA secondary structure unwinding  (IDA)
spermatogenesis  (IEA,ISS)
telomerase RNA stabilization  (IDA)

Cellular Component
axon  (IEA,ISS)
cell projection  (IEA)
chromosome  (IEA)
chromosome, telomeric region  (IDA,IEA)
cytoplasm  (IBA,IDA,IEA)
cytoplasmic stress granule  (IDA,IEA)
cytosol  (IDA,IEA,TAS)
dendrite  (IEA,ISS)
extracellular exosome  (HDA)
membrane  (IEA)
mitochondrion  (IDA,IEA)
nuclear speck  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)
perikaryon  (IEA,ISS)

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:10819331   PMID:12198572   PMID:12477932   PMID:12812084   PMID:14702039   PMID:14731398   PMID:15144186   PMID:15489334   PMID:16150737   PMID:16482509   PMID:17353931   PMID:17461779  
PMID:17932509   PMID:18029348   PMID:18279852   PMID:18570454   PMID:18842585   PMID:18854321   PMID:20020773   PMID:20472641   PMID:20696886   PMID:21081503   PMID:21145461   PMID:21149580  
PMID:21266579   PMID:21586581   PMID:21846770   PMID:21858080   PMID:21873635   PMID:21964062   PMID:21993297   PMID:22174317   PMID:22238380   PMID:22586326   PMID:22658674   PMID:22681889  
PMID:22939629   PMID:23151878   PMID:23825951   PMID:24151078   PMID:24163370   PMID:24332808   PMID:24337577   PMID:24369427   PMID:24457600   PMID:24550385   PMID:24651521   PMID:24778252  
PMID:25324306   PMID:25347788   PMID:25579584   PMID:25693804   PMID:25737280   PMID:25921289   PMID:26030138   PMID:26172836   PMID:26186194   PMID:26344197   PMID:26489465   PMID:26496610  
PMID:26649896   PMID:26740632   PMID:26816005   PMID:26949251   PMID:27025967   PMID:27407146   PMID:27684187   PMID:27940037   PMID:28065761   PMID:28069994   PMID:28077445   PMID:28302793  
PMID:28431233   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28533407   PMID:28695742   PMID:28986522   PMID:29117863   PMID:29229926   PMID:29269411   PMID:29395067   PMID:29467282  
PMID:29509190   PMID:29778605   PMID:29802200   PMID:29845934   PMID:29961565   PMID:30209976   PMID:30320910   PMID:30463901   PMID:30471916   PMID:30591072   PMID:30884312   PMID:30940648  
PMID:30948266   PMID:31015431   PMID:31059266   PMID:31091453   PMID:31160600   PMID:31298480   PMID:31332168   PMID:31553912   PMID:31586073   PMID:31586599   PMID:31822558   PMID:32051553  
PMID:32694731   PMID:32698014   PMID:32774561   PMID:32788342   PMID:32807901   PMID:32814053   PMID:32877691   PMID:32971831   PMID:32989298   PMID:33021960   PMID:33226137   PMID:33536335  
PMID:33731348   PMID:33742100   PMID:33857359   PMID:33961781   PMID:34174288   PMID:34244482   PMID:34349018   PMID:34373451   PMID:34578187   PMID:34650049   PMID:34783801   PMID:34862880  
PMID:35013218   PMID:35140242   PMID:35253629   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35509820   PMID:35676246   PMID:35696571   PMID:35819319   PMID:35831314   PMID:35850772  
PMID:35915203   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36424410   PMID:36526897   PMID:36538041   PMID:36597993   PMID:36841324   PMID:37314180   PMID:37314216   PMID:37317656  
PMID:37536630   PMID:37632696   PMID:37689310   PMID:37794589   PMID:37827155   PMID:38113892   PMID:38334954   PMID:38339029   PMID:38697112   PMID:38777146  


Genomics

Comparative Map Data
DHX36
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383154,272,546 - 154,324,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3154,272,546 - 154,324,487 (-)EnsemblGRCh38hg38GRCh38
GRCh373153,990,335 - 154,042,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363155,476,152 - 155,524,971 (-)NCBINCBI36Build 36hg18NCBI36
Build 343155,476,159 - 155,524,973NCBI
Celera3152,414,134 - 152,462,946 (-)NCBICelera
Cytogenetic Map3q25.2NCBI
HuRef3151,388,213 - 151,437,233 (-)NCBIHuRef
CHM1_13153,956,666 - 154,005,426 (-)NCBICHM1_1
T2T-CHM13v2.03157,046,825 - 157,098,745 (-)NCBIT2T-CHM13v2.0
Dhx36
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39362,375,436 - 62,414,464 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl362,375,434 - 62,414,425 (-)EnsemblGRCm39 Ensembl
GRCm38362,468,015 - 62,507,034 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl362,468,013 - 62,507,004 (-)EnsemblGRCm38mm10GRCm38
MGSCv37362,272,564 - 62,310,910 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36362,558,012 - 62,594,917 (-)NCBIMGSCv36mm8
Celera362,146,120 - 62,183,742 (-)NCBICelera
Cytogenetic Map3E1NCBI
cM Map329.97NCBI
Dhx36
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82149,006,089 - 149,044,192 (-)NCBIGRCr8
mRatBN7.22146,856,469 - 146,894,577 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2146,856,469 - 146,894,572 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2153,533,266 - 153,574,345 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02151,638,135 - 151,676,173 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02146,270,518 - 146,308,556 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02152,785,844 - 152,824,549 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2152,785,844 - 152,824,547 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02172,178,850 - 172,217,986 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42152,122,767 - 152,161,219 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12152,075,160 - 152,111,181 (-)NCBI
Celera2141,195,467 - 141,233,553 (-)NCBICelera
Cytogenetic Map2q31NCBI
Dhx36
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554485,634,072 - 5,676,319 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554485,634,072 - 5,676,272 (-)NCBIChiLan1.0ChiLan1.0
DHX36
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22152,190,111 - 152,241,082 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13152,194,843 - 152,245,768 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03151,331,468 - 151,382,406 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13158,885,041 - 158,935,952 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3158,885,541 - 158,935,871 (-)Ensemblpanpan1.1panPan2
DHX36
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12348,404,351 - 48,456,360 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2348,407,316 - 48,456,654 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2348,271,774 - 48,335,495 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02349,034,891 - 49,086,747 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2349,036,423 - 49,086,673 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12348,615,676 - 48,679,491 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02348,671,780 - 48,735,432 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02348,954,309 - 49,018,059 (-)NCBIUU_Cfam_GSD_1.0
Dhx36
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560287,746,909 - 87,787,083 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365191,946,652 - 1,987,070 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365191,946,684 - 1,987,036 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHX36
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1394,298,794 - 94,350,308 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11394,298,790 - 94,350,333 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213102,367,281 - 102,396,208 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DHX36
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11536,387,242 - 36,438,133 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1536,387,228 - 36,437,606 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660419,049,856 - 9,103,295 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhx36
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473031,855,992 - 31,914,253 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473031,857,157 - 31,913,985 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DHX36
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q25.1-25.2(chr3:151142354-154931417)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051577]|See cases [RCV000051577] Chr3:151142354..154931417 [GRCh38]
Chr3:150860141..154649206 [GRCh37]
Chr3:152342831..156131900 [NCBI36]
Chr3:3q25.1-25.2
pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_001114397.1(DHX36):c.1050T>A (p.Val350=) single nucleotide variant Malignant melanoma [RCV000065895] Chr3:154304891 [GRCh38]
Chr3:154022680 [GRCh37]
Chr3:155505374 [NCBI36]
Chr3:3q25.2
not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1 copy number loss See cases [RCV000141813] Chr3:151429416..155118646 [GRCh38]
Chr3:151147204..154836435 [GRCh37]
Chr3:152629894..156319129 [NCBI36]
Chr3:3q25.1-25.2
likely pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_020865.3(DHX36):c.2908A>G (p.Asn970Asp) single nucleotide variant not specified [RCV004331787] Chr3:154276290 [GRCh38]
Chr3:153994079 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1141T>C (p.Cys381Arg) single nucleotide variant not specified [RCV004305634] Chr3:154303405 [GRCh38]
Chr3:154021194 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1447G>A (p.Val483Ile) single nucleotide variant not specified [RCV004298192] Chr3:154300608 [GRCh38]
Chr3:154018397 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020865.3(DHX36):c.1877A>G (p.Tyr626Cys) single nucleotide variant not specified [RCV004296600] Chr3:154289764 [GRCh38]
Chr3:154007553 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32
pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1
pathogenic
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33
pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718) copy number loss not specified [RCV002053377] Chr3:151147204..154845718 [GRCh37]
Chr3:3q25.1-25.2
uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NM_020865.3(DHX36):c.277G>A (p.Glu93Lys) single nucleotide variant not specified [RCV004089298] Chr3:154316130 [GRCh38]
Chr3:154033919 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1393A>G (p.Met465Val) single nucleotide variant not specified [RCV004189302] Chr3:154300662 [GRCh38]
Chr3:154018451 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.814G>C (p.Val272Leu) single nucleotide variant not specified [RCV004134882] Chr3:154306295 [GRCh38]
Chr3:154024084 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2278G>A (p.Val760Met) single nucleotide variant not specified [RCV004130185] Chr3:154284597 [GRCh38]
Chr3:154002386 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1285A>G (p.Arg429Gly) single nucleotide variant not specified [RCV004190723] Chr3:154301060 [GRCh38]
Chr3:154018849 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1588A>G (p.Thr530Ala) single nucleotide variant not specified [RCV004129043] Chr3:154295301 [GRCh38]
Chr3:154013090 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2651A>G (p.Asn884Ser) single nucleotide variant not specified [RCV004215531] Chr3:154277635 [GRCh38]
Chr3:153995424 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2227G>T (p.Ala743Ser) single nucleotide variant not specified [RCV004235016] Chr3:154284648 [GRCh38]
Chr3:154002437 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2749A>T (p.Ile917Phe) single nucleotide variant not specified [RCV004232007] Chr3:154276839 [GRCh38]
Chr3:153994628 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.137G>T (p.Gly46Val) single nucleotide variant not specified [RCV004246882] Chr3:154324280 [GRCh38]
Chr3:154042069 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2314C>T (p.Arg772Cys) single nucleotide variant not specified [RCV004179534] Chr3:154283250 [GRCh38]
Chr3:154001039 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2882T>C (p.Ile961Thr) single nucleotide variant not specified [RCV004268077] Chr3:154276316 [GRCh38]
Chr3:153994105 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2317G>C (p.Gly773Arg) single nucleotide variant not specified [RCV004269107] Chr3:154283247 [GRCh38]
Chr3:154001036 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2726G>C (p.Cys909Ser) single nucleotide variant not specified [RCV004274056] Chr3:154276862 [GRCh38]
Chr3:153994651 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.700T>A (p.Cys234Ser) single nucleotide variant not specified [RCV004287350] Chr3:154309766 [GRCh38]
Chr3:154027555 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.814G>A (p.Val272Ile) single nucleotide variant not specified [RCV004264648] Chr3:154306295 [GRCh38]
Chr3:154024084 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.3020A>G (p.Tyr1007Cys) single nucleotide variant not specified [RCV004283338] Chr3:154276178 [GRCh38]
Chr3:153993967 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2503A>G (p.Ile835Val) single nucleotide variant not specified [RCV004290604] Chr3:154280643 [GRCh38]
Chr3:153998432 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1439G>A (p.Arg480Gln) single nucleotide variant not specified [RCV004353770] Chr3:154300616 [GRCh38]
Chr3:154018405 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1750A>G (p.Ser584Gly) single nucleotide variant not specified [RCV004354701] Chr3:154292615 [GRCh38]
Chr3:154010404 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1487C>T (p.Pro496Leu) single nucleotide variant not specified [RCV004363380] Chr3:154299900 [GRCh38]
Chr3:154017689 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1604A>T (p.Gln535Leu) single nucleotide variant not specified [RCV004362338] Chr3:154295285 [GRCh38]
Chr3:154013074 [GRCh37]
Chr3:3q25.2
uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
NM_020865.3(DHX36):c.75G>A (p.Gly25=) single nucleotide variant not provided [RCV003439035] Chr3:154324342 [GRCh38]
Chr3:154042131 [GRCh37]
Chr3:3q25.2
likely benign
NM_020865.3(DHX36):c.1367C>T (p.Ala456Val) single nucleotide variant not specified [RCV004373592] Chr3:154300688 [GRCh38]
Chr3:154018477 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1376T>C (p.Val459Ala) single nucleotide variant not specified [RCV004373593] Chr3:154300679 [GRCh38]
Chr3:154018468 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1483C>G (p.Leu495Val) single nucleotide variant not specified [RCV004373594] Chr3:154299904 [GRCh38]
Chr3:154017693 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.211G>A (p.Gly71Arg) single nucleotide variant not specified [RCV004373596] Chr3:154324206 [GRCh38]
Chr3:154041995 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.3002G>A (p.Arg1001Gln) single nucleotide variant not specified [RCV004373599] Chr3:154276196 [GRCh38]
Chr3:153993985 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.50G>A (p.Ser17Asn) single nucleotide variant not specified [RCV004373600] Chr3:154324367 [GRCh38]
Chr3:154042156 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.991A>G (p.Ile331Val) single nucleotide variant not specified [RCV004373601] Chr3:154304950 [GRCh38]
Chr3:154022739 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1976T>C (p.Met659Thr) single nucleotide variant not specified [RCV004373595] Chr3:154288921 [GRCh38]
Chr3:154006710 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2329G>A (p.Glu777Lys) single nucleotide variant not specified [RCV004373597] Chr3:154283235 [GRCh38]
Chr3:154001024 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2986A>G (p.Arg996Gly) single nucleotide variant not specified [RCV004373598] Chr3:154276212 [GRCh38]
Chr3:153994001 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.388A>G (p.Thr130Ala) single nucleotide variant not specified [RCV004614212] Chr3:154315261 [GRCh38]
Chr3:154033050 [GRCh37]
Chr3:3q25.2
likely benign
NM_020865.3(DHX36):c.2315G>A (p.Arg772His) single nucleotide variant not specified [RCV004614211] Chr3:154283249 [GRCh38]
Chr3:154001038 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2692T>C (p.Tyr898His) single nucleotide variant not specified [RCV004614216] Chr3:154276896 [GRCh38]
Chr3:153994685 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1397A>T (p.Glu466Val) single nucleotide variant not specified [RCV004614218] Chr3:154300658 [GRCh38]
Chr3:154018447 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2830C>T (p.His944Tyr) single nucleotide variant not specified [RCV004614219] Chr3:154276758 [GRCh38]
Chr3:153994547 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.1601C>T (p.Thr534Ile) single nucleotide variant not specified [RCV004614220] Chr3:154295288 [GRCh38]
Chr3:154013077 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2644C>A (p.His882Asn) single nucleotide variant not specified [RCV004614222] Chr3:154277642 [GRCh38]
Chr3:153995431 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2579A>C (p.Tyr860Ser) single nucleotide variant not specified [RCV004614221] Chr3:154277707 [GRCh38]
Chr3:153995496 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2050G>C (p.Glu684Gln) single nucleotide variant not specified [RCV004614217] Chr3:154284969 [GRCh38]
Chr3:154002758 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.2011A>G (p.Ile671Val) single nucleotide variant not specified [RCV004614215] Chr3:154288886 [GRCh38]
Chr3:154006675 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_020865.3(DHX36):c.800_802del (p.Ile267del) deletion DHX36-associated disorder [RCV004759531]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2164
Count of miRNA genes:1006
Interacting mature miRNAs:1186
Transcripts:ENST00000308361, ENST00000329463, ENST00000460695, ENST00000460875, ENST00000462464, ENST00000469977, ENST00000477549, ENST00000479934, ENST00000481332, ENST00000481941, ENST00000491011, ENST00000495598, ENST00000496811, ENST00000544526
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
407377608GWAS1026584_Hbody mass index QTL GWAS1026584 (human)7e-18body mass indexbody mass index (BMI) (CMO:0000105)3154306376154306377Human
407410698GWAS1059674_Hprogrammed cell death 1 ligand 2 measurement QTL GWAS1059674 (human)4e-14programmed cell death 1 ligand 2 measurement3154318917154318918Human
407305986GWAS954962_Hlean body mass QTL GWAS954962 (human)3e-10body lean mass (VT:0010483)total body lean mass (CMO:0003950)3154301098154301099Human
407371599GWAS1020575_Hbody mass index QTL GWAS1020575 (human)0.000001body mass indexbody mass index (BMI) (CMO:0000105)3154301098154301099Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407371464GWAS1020440_Hbody mass index QTL GWAS1020440 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)3154301098154301099Human
407376793GWAS1025769_Hbody mass index QTL GWAS1025769 (human)2e-18body mass indexbody mass index (BMI) (CMO:0000105)3154317161154317162Human
406996816GWAS645792_Hbody mass index QTL GWAS645792 (human)6e-21body mass indexbody mass index (BMI) (CMO:0000105)3154301098154301099Human
407162391GWAS811367_Hbody mass index QTL GWAS811367 (human)6e-15body mass indexbody mass index (BMI) (CMO:0000105)3154317161154317162Human
407307091GWAS956067_Hbody mass index QTL GWAS956067 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)3154306376154306377Human
406949940GWAS598916_Hbody mass index QTL GWAS598916 (human)4e-18body mass indexbody mass index (BMI) (CMO:0000105)3154320623154320624Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407378420GWAS1027396_Hbody mass index QTL GWAS1027396 (human)3e-15body mass indexbody mass index (BMI) (CMO:0000105)3154317161154317162Human

Markers in Region
SHGC-35942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,003,458 - 154,003,563UniSTSGRCh37
Build 363155,486,152 - 155,486,257RGDNCBI36
Celera3152,424,136 - 152,424,241RGD
Cytogenetic Map3q25.2UniSTS
HuRef3151,398,212 - 151,398,317UniSTS
GeneMap99-G3 RH Map37514.0UniSTS
D3S2833E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373153,993,512 - 153,993,679UniSTSGRCh37
Build 363155,476,206 - 155,476,373RGDNCBI36
Celera3152,414,189 - 152,414,356RGD
Cytogenetic Map3q25.2UniSTS
HuRef3151,388,268 - 151,388,435UniSTS
GeneMap99-GB4 RH Map3570.63UniSTS
NCBI RH Map31346.3UniSTS
SHGC-79130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373153,999,501 - 153,999,780UniSTSGRCh37
Build 363155,482,195 - 155,482,474RGDNCBI36
Celera3152,420,178 - 152,420,458RGD
Cytogenetic Map3q25.2UniSTS
HuRef3151,394,255 - 151,394,535UniSTS
D3S2960E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373153,994,663 - 153,995,481UniSTSGRCh37
Build 363155,477,357 - 155,478,175RGDNCBI36
Celera3152,415,340 - 152,416,158RGD
Cytogenetic Map3q25.2UniSTS
HuRef3151,389,417 - 151,390,235UniSTS
D3S2897E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,002,547 - 154,002,641UniSTSGRCh37
Build 363155,485,241 - 155,485,335RGDNCBI36
Celera3152,423,225 - 152,423,319RGD
Cytogenetic Map3q25.2UniSTS
HuRef3151,397,302 - 151,397,396UniSTS
GeneMap99-GB4 RH Map3570.63UniSTS
NCBI RH Map31346.3UniSTS
SHGC-77472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,002,396 - 154,002,520UniSTSGRCh37
Build 363155,485,090 - 155,485,214RGDNCBI36
Celera3152,423,074 - 152,423,198RGD
Cytogenetic Map3q25.2UniSTS
HuRef3151,397,151 - 151,397,275UniSTS
GeneMap99-GB4 RH Map3570.63UniSTS
Whitehead-RH Map3702.9UniSTS
NCBI RH Map31346.3UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000308361   ⟹   ENSP00000309296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,275,668 - 154,324,460 (-)Ensembl
Ensembl Acc Id: ENST00000329463   ⟹   ENSP00000330113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,276,171 - 154,324,416 (-)Ensembl
Ensembl Acc Id: ENST00000460695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,278,495 - 154,283,218 (-)Ensembl
Ensembl Acc Id: ENST00000460875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,303,344 - 154,305,337 (-)Ensembl
Ensembl Acc Id: ENST00000462464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,309,796 - 154,312,248 (-)Ensembl
Ensembl Acc Id: ENST00000469977   ⟹   ENSP00000419761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,284,653 - 154,295,327 (-)Ensembl
Ensembl Acc Id: ENST00000477549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,276,553 - 154,277,894 (-)Ensembl
Ensembl Acc Id: ENST00000479934   ⟹   ENSP00000418756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,277,625 - 154,284,987 (-)Ensembl
Ensembl Acc Id: ENST00000481332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,284,781 - 154,292,578 (-)Ensembl
Ensembl Acc Id: ENST00000481941   ⟹   ENSP00000419862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,277,635 - 154,319,284 (-)Ensembl
Ensembl Acc Id: ENST00000491011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,314,651 - 154,324,251 (-)Ensembl
Ensembl Acc Id: ENST00000495598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,276,029 - 154,277,835 (-)Ensembl
Ensembl Acc Id: ENST00000496811   ⟹   ENSP00000417078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3154,272,546 - 154,324,487 (-)Ensembl
RefSeq Acc Id: NM_001114397   ⟹   NP_001107869
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383154,272,546 - 154,324,487 (-)NCBI
GRCh373153,993,452 - 154,042,286 (-)NCBI
HuRef3151,388,213 - 151,437,233 (-)ENTREZGENE
CHM1_13153,956,666 - 154,005,426 (-)NCBI
T2T-CHM13v2.03157,046,825 - 157,098,745 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020865   ⟹   NP_065916
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383154,272,546 - 154,324,487 (-)NCBI
GRCh373153,993,452 - 154,042,286 (-)NCBI
Build 363155,476,152 - 155,524,971 (-)NCBI Archive
HuRef3151,388,213 - 151,437,233 (-)ENTREZGENE
CHM1_13153,956,666 - 154,005,426 (-)NCBI
T2T-CHM13v2.03157,046,825 - 157,098,745 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001107869   ⟸   NM_001114397
- Peptide Label: isoform 2
- UniProtKB: B7Z8P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065916   ⟸   NM_020865
- Peptide Label: isoform 1
- UniProtKB: Q8IYE5 (UniProtKB/Swiss-Prot),   Q70JU3 (UniProtKB/Swiss-Prot),   B2RB00 (UniProtKB/Swiss-Prot),   Q9P240 (UniProtKB/Swiss-Prot),   Q9H2U1 (UniProtKB/Swiss-Prot),   B7Z8P5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000309296   ⟸   ENST00000308361
Ensembl Acc Id: ENSP00000418756   ⟸   ENST00000479934
Ensembl Acc Id: ENSP00000419761   ⟸   ENST00000469977
Ensembl Acc Id: ENSP00000419862   ⟸   ENST00000481941
Ensembl Acc Id: ENSP00000417078   ⟸   ENST00000496811
Ensembl Acc Id: ENSP00000330113   ⟸   ENST00000329463
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H2U1-F1-model_v2 AlphaFold Q9H2U1 1-1008 view protein structure

Promoters
RGD ID:6866046
Promoter ID:EPDNEW_H6188
Type:initiation region
Name:DHX36_1
Description:DEAH-box helicase 36
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
GRCh383154,324,462 - 154,324,522EPDNEW
RGD ID:6800960
Promoter ID:HG_KWN:46517
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:ENST00000392856,   NM_001114397,   NM_020865,   UC003EZZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 363155,524,719 - 155,525,219 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14410 AgrOrtholog
COSMIC DHX36 COSMIC
Ensembl Genes ENSG00000174953 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281763 UniProtKB/TrEMBL
Ensembl Transcript ENST00000308361.10 UniProtKB/Swiss-Prot
  ENST00000329463 ENTREZGENE
  ENST00000329463.9 UniProtKB/Swiss-Prot
  ENST00000469977.1 UniProtKB/TrEMBL
  ENST00000479934.5 UniProtKB/TrEMBL
  ENST00000481941.5 UniProtKB/TrEMBL
  ENST00000496811 ENTREZGENE
  ENST00000496811.6 UniProtKB/Swiss-Prot
  ENST00000626678.1 UniProtKB/TrEMBL
  ENST00000627269.2 UniProtKB/TrEMBL
  ENST00000629736.2 UniProtKB/TrEMBL
  ENST00000630672.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.1080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174953 GTEx
  ENSG00000281763 GTEx
HGNC ID HGNC:14410 ENTREZGENE
Human Proteome Map DHX36 Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_helicase_DEAH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1605 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase-assoc_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
KEGG Report hsa:170506 UniProtKB/Swiss-Prot
NCBI Gene 170506 ENTREZGENE
OMIM 612767 OMIM
PANTHER ATP-DEPENDENT DNA/RNA HELICASE DHX36 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OB_NTP_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27223 PharmGKB
PROSITE DEAH_ATP_HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JQU7_HUMAN UniProtKB/TrEMBL
  A0A0G2JRP3_HUMAN UniProtKB/TrEMBL
  B2RB00 ENTREZGENE
  B7Z8P5 ENTREZGENE, UniProtKB/TrEMBL
  DHX36_HUMAN UniProtKB/Swiss-Prot
  E7EWK3_HUMAN UniProtKB/TrEMBL
  H7C514_HUMAN UniProtKB/TrEMBL
  H7C5F5_HUMAN UniProtKB/TrEMBL
  Q70JU3 ENTREZGENE
  Q8IYE5 ENTREZGENE
  Q9H2U1 ENTREZGENE
  Q9P240 ENTREZGENE
UniProt Secondary B2RB00 UniProtKB/Swiss-Prot
  Q70JU3 UniProtKB/Swiss-Prot
  Q8IYE5 UniProtKB/Swiss-Prot
  Q9P240 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 DHX36  DEAH-box helicase 36  DHX36  DEAH (Asp-Glu-Ala-His) box polypeptide 36  Symbol and/or name change 5135510 APPROVED