DDX47 (DEAD-box helicase 47) - Rat Genome Database

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Gene: DDX47 (DEAD-box helicase 47) Homo sapiens
Analyze
Symbol: DDX47
Name: DEAD-box helicase 47
RGD ID: 1321338
HGNC Page HGNC:18682
Description: Enables RNA binding activity. Involved in RNA splicing; extrinsic apoptotic signaling pathway via death domain receptors; and rRNA processing. Located in nucleolus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEAD (Asp-Glu-Ala-Asp) box polypeptide 47; DEAD box polypeptide 47; DEAD box protein 47; DKFZp564O176; E4-DBP; E4-DEAD box protein; FLJ30012; HQ0256; MSTP162; probable ATP-dependent RNA helicase DDX47; RRP3
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
GRCh381212,813,346 - 12,829,981 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1212,813,316 - 12,829,981 (+)EnsemblGRCh38hg38GRCh38
GRCh371212,966,280 - 12,982,915 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361212,857,547 - 12,874,182 (+)NCBINCBI36Build 36hg18NCBI36
Celera1218,115,010 - 18,131,645 (+)NCBICelera
Cytogenetic Map12p13.1NCBI
HuRef1212,735,953 - 12,752,589 (+)NCBIHuRef
CHM1_11212,931,661 - 12,948,296 (+)NCBICHM1_1
T2T-CHM13v2.01212,686,924 - 12,703,560 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (NAS)
membrane  (HDA)
nucleolus  (IDA,IEA)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11024137   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12429849   PMID:12477932   PMID:14702039   PMID:15102925   PMID:15489334   PMID:15489336   PMID:15635413  
PMID:15977068   PMID:16381901   PMID:16963496   PMID:17932509   PMID:18029348   PMID:18482256   PMID:19615732   PMID:19710015   PMID:19738201   PMID:19946888   PMID:20467437   PMID:20706999  
PMID:21081666   PMID:21145461   PMID:21832049   PMID:21873635   PMID:21907836   PMID:21988832   PMID:22174317   PMID:22658674   PMID:22681889   PMID:22939629   PMID:23602568   PMID:24244333  
PMID:24457600   PMID:24711643   PMID:24797263   PMID:25665578   PMID:25693804   PMID:26186194   PMID:26300262   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26687479  
PMID:26777405   PMID:26870752   PMID:27049334   PMID:27591049   PMID:27926873   PMID:27976729   PMID:28186131   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28611094   PMID:28977666  
PMID:29117863   PMID:29298432   PMID:29467282   PMID:29509190   PMID:29564676   PMID:29568061   PMID:30209976   PMID:30462309   PMID:30463901   PMID:30745168   PMID:30804502   PMID:30833792  
PMID:30940648   PMID:30948266   PMID:31010829   PMID:31048545   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31363146   PMID:31586073   PMID:31665637   PMID:31685992   PMID:31753913  
PMID:31871319   PMID:31980649   PMID:31995728   PMID:32416067   PMID:32640226   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32807901   PMID:32994395   PMID:33022573   PMID:33226137  
PMID:33306668   PMID:33567341   PMID:33644029   PMID:33729478   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34373451   PMID:34578187   PMID:34709727   PMID:35013218  
PMID:35253629   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35509820   PMID:35831895   PMID:35850772   PMID:35944360   PMID:36215168   PMID:36217030   PMID:36244648   PMID:36424410  
PMID:36517590   PMID:36526897   PMID:36537216   PMID:36574265   PMID:36774506   PMID:36827184   PMID:36912080   PMID:37071664   PMID:37553903   PMID:37689310   PMID:37827155   PMID:38113892  
PMID:38172120  


Genomics

Comparative Map Data
DDX47
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381212,813,346 - 12,829,981 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1212,813,316 - 12,829,981 (+)EnsemblGRCh38hg38GRCh38
GRCh371212,966,280 - 12,982,915 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361212,857,547 - 12,874,182 (+)NCBINCBI36Build 36hg18NCBI36
Celera1218,115,010 - 18,131,645 (+)NCBICelera
Cytogenetic Map12p13.1NCBI
HuRef1212,735,953 - 12,752,589 (+)NCBIHuRef
CHM1_11212,931,661 - 12,948,296 (+)NCBICHM1_1
T2T-CHM13v2.01212,686,924 - 12,703,560 (+)NCBIT2T-CHM13v2.0
Ddx47
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396134,988,575 - 135,000,739 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6134,988,575 - 135,000,739 (+)EnsemblGRCm39 Ensembl
GRCm386135,011,612 - 135,023,776 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6135,011,612 - 135,023,776 (+)EnsemblGRCm38mm10GRCm38
MGSCv376134,961,630 - 134,973,794 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366134,977,313 - 134,989,464 (+)NCBIMGSCv36mm8
Celera6137,966,763 - 137,979,333 (+)NCBICelera
Cytogenetic Map6G1NCBI
cM Map665.77NCBI
Ddx47
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84169,577,013 - 169,589,473 (+)NCBIGRCr8
mRatBN7.24167,845,652 - 167,858,115 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4167,845,640 - 167,859,115 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4174,139,094 - 174,151,603 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04169,922,068 - 169,934,577 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04168,546,016 - 168,558,525 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04168,775,134 - 168,787,594 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4168,775,111 - 168,787,730 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04233,045,472 - 233,060,508 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44171,928,195 - 171,940,648 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14172,173,130 - 172,185,583 (+)NCBI
Celera4156,442,112 - 156,454,572 (+)NCBICelera
Cytogenetic Map4q43NCBI
Ddx47
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554139,703,777 - 9,718,796 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554139,703,777 - 9,718,802 (+)NCBIChiLan1.0ChiLan1.0
DDX47
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21018,281,854 - 18,298,742 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11218,278,613 - 18,295,501 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01212,838,201 - 12,854,874 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11213,216,152 - 13,232,852 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1213,216,152 - 13,232,846 (+)Ensemblpanpan1.1panPan2
DDX47
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12733,509,959 - 33,525,496 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2733,509,958 - 33,525,516 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2712,919,447 - 12,934,998 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02733,817,022 - 33,832,537 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2733,815,865 - 33,832,600 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12733,710,542 - 33,726,098 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02733,660,892 - 33,676,458 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02712,653,652 - 12,669,241 (+)NCBIUU_Cfam_GSD_1.0
Ddx47
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494594,755,248 - 94,768,794 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365874,479,284 - 4,496,725 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365874,482,883 - 4,496,429 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX47
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl559,633,426 - 59,650,553 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1559,633,422 - 59,646,980 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DDX47
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11112,716,375 - 12,734,494 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1112,716,290 - 12,734,061 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606922,587,283 - 22,605,411 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ddx47
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475225,117,016 - 25,131,911 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475225,114,639 - 25,131,601 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DDX47
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1 copy number loss See cases [RCV000050816] Chr12:11771233..13547775 [GRCh38]
Chr12:11924167..13700709 [GRCh37]
Chr12:11815434..13591976 [NCBI36]
Chr12:12p13.2-13.1		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 copy number loss See cases [RCV000052780] Chr12:12388842..15540422 [GRCh38]
Chr12:12541776..15693356 [GRCh37]
Chr12:12433043..15584623 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_016355.3(DDX47):c.181+1293C>T single nucleotide variant Lung cancer [RCV000110755] Chr12:12815517 [GRCh38]
Chr12:12968451 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1 copy number loss See cases [RCV000135331] Chr12:12363649..15280588 [GRCh38]
Chr12:12514722..15433522 [GRCh37]
Chr12:12405989..15324789 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 copy number loss See cases [RCV000142882] Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3 copy number gain Breast ductal adenocarcinoma [RCV000207111] Chr12:12419642..13256423 [GRCh37]
Chr12:12p13.2-13.1		 uncertain significance
chr12:10074776-18800953 complex variant complex Breast ductal adenocarcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1 copy number loss not provided [RCV000683470] Chr12:10717428..14032860 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.12:g.(?_12717002)_(13982130_?)dup duplication Intellectual disability, autosomal dominant 6 [RCV001032122] Chr12:12869936..14135064 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349) copy number loss Multiple endocrine neoplasia type 4 [RCV000767604] Chr12:10336209..13535349 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.1(chr12:12929249-13022464)x3 copy number gain not provided [RCV000849521] Chr12:12929249..13022464 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.12:g.(?_12717002)_(13982130_?)del deletion Intellectual disability, autosomal dominant 6 [RCV001032132] Chr12:12869936..14135064 [GRCh37]
Chr12:12p13.1		 pathogenic
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 copy number loss not provided [RCV001006482] Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3		 pathogenic
GRCh37/hg19 12p13.1(chr12:12908649-12978616)x1 copy number loss not provided [RCV001006484] Chr12:12908649..12978616 [GRCh37]
Chr12:12p13.1		 likely benign
NM_016355.4(DDX47):c.1129C>A (p.Arg377Ser) single nucleotide variant Intellectual disability [RCV001261391] Chr12:12827268 [GRCh38]
Chr12:12980202 [GRCh37]
Chr12:12p13.1		 uncertain significance
NC_000012.11:g.(?_12869936)_(14135064_?)dup duplication Mental retardation, autosomal dominant 6 [RCV001327933] Chr12:12869936..14135064 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.11:g.(?_11803062)_(15835885_?)dup duplication Intellectual disability, autosomal dominant 6 [RCV001931714]|not provided [RCV001946435] Chr12:11803062..15835885 [GRCh37]
Chr12:12p13.2-12.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142) copy number loss Intellectual disability [RCV003320282] Chr12:11463270..14019142 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1		 pathogenic
NM_016355.4(DDX47):c.1130G>A (p.Arg377His) single nucleotide variant not specified [RCV004109774] Chr12:12827269 [GRCh38]
Chr12:12980203 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1219C>G (p.Gln407Glu) single nucleotide variant not specified [RCV004138758] Chr12:12827358 [GRCh38]
Chr12:12980292 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1339G>A (p.Gly447Arg) single nucleotide variant not specified [RCV004183211] Chr12:12829525 [GRCh38]
Chr12:12982459 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.971G>C (p.Ser324Thr) single nucleotide variant not specified [RCV004092523] Chr12:12824613 [GRCh38]
Chr12:12977547 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1193T>C (p.Met398Thr) single nucleotide variant not specified [RCV004079038] Chr12:12827332 [GRCh38]
Chr12:12980266 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1174C>G (p.Gln392Glu) single nucleotide variant not specified [RCV004138757] Chr12:12827313 [GRCh38]
Chr12:12980247 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1090A>G (p.Ile364Val) single nucleotide variant not specified [RCV004195266] Chr12:12826054 [GRCh38]
Chr12:12978988 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.13G>A (p.Glu5Lys) single nucleotide variant not specified [RCV004121228] Chr12:12813380 [GRCh38]
Chr12:12966314 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.185G>A (p.Arg62His) single nucleotide variant not specified [RCV004245306] Chr12:12821211 [GRCh38]
Chr12:12974145 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.304C>T (p.Arg102Trp) single nucleotide variant not specified [RCV004151707] Chr12:12821330 [GRCh38]
Chr12:12974264 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.894T>A (p.Ser298Arg) single nucleotide variant not specified [RCV004205290] Chr12:12824013 [GRCh38]
Chr12:12976947 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.44A>C (p.Gln15Pro) single nucleotide variant not specified [RCV004204706] Chr12:12813411 [GRCh38]
Chr12:12966345 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.680C>T (p.Ala227Val) single nucleotide variant not specified [RCV004226352] Chr12:12823249 [GRCh38]
Chr12:12976183 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1010A>G (p.Asn337Ser) single nucleotide variant not specified [RCV004195781] Chr12:12824652 [GRCh38]
Chr12:12977586 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1140C>G (p.His380Gln) single nucleotide variant not specified [RCV004093498] Chr12:12827279 [GRCh38]
Chr12:12980213 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.904C>T (p.Arg302Cys) single nucleotide variant not specified [RCV004091669] Chr12:12824546 [GRCh38]
Chr12:12977480 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.595C>T (p.Arg199Trp) single nucleotide variant not specified [RCV004177008] Chr12:12822694 [GRCh38]
Chr12:12975628 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.820A>G (p.Asn274Asp) single nucleotide variant not specified [RCV004119902] Chr12:12823939 [GRCh38]
Chr12:12976873 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.418G>A (p.Ala140Thr) single nucleotide variant not specified [RCV004222018] Chr12:12821702 [GRCh38]
Chr12:12974636 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.988C>A (p.Pro330Thr) single nucleotide variant not specified [RCV004186928] Chr12:12824630 [GRCh38]
Chr12:12977564 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_016355.4(DDX47):c.854A>G (p.Asn285Ser) single nucleotide variant not specified [RCV004323585] Chr12:12823973 [GRCh38]
Chr12:12976907 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.682G>A (p.Val228Ile) single nucleotide variant not specified [RCV004248299] Chr12:12823251 [GRCh38]
Chr12:12976185 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.475A>G (p.Asn159Asp) single nucleotide variant not specified [RCV004263253] Chr12:12821997 [GRCh38]
Chr12:12974931 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1274G>A (p.Arg425Gln) single nucleotide variant not specified [RCV004339125] Chr12:12829460 [GRCh38]
Chr12:12982394 [GRCh37]
Chr12:12p13.1		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_016355.4(DDX47):c.622A>G (p.Met208Val) single nucleotide variant not specified [RCV004375858] Chr12:12822721 [GRCh38]
Chr12:12975655 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.940C>T (p.Arg314Cys) single nucleotide variant not specified [RCV004375860] Chr12:12824582 [GRCh38]
Chr12:12977516 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.952C>A (p.Leu318Ile) single nucleotide variant not specified [RCV004375861] Chr12:12824594 [GRCh38]
Chr12:12977528 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1271C>T (p.Ser424Leu) single nucleotide variant not specified [RCV004375854] Chr12:12829457 [GRCh38]
Chr12:12982391 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.229G>A (p.Ala77Thr) single nucleotide variant not specified [RCV004375855] Chr12:12821255 [GRCh38]
Chr12:12974189 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1138C>T (p.His380Tyr) single nucleotide variant not specified [RCV004375849] Chr12:12827277 [GRCh38]
Chr12:12980211 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1227T>G (p.Phe409Leu) single nucleotide variant not specified [RCV004375850] Chr12:12827366 [GRCh38]
Chr12:12980300 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1232G>A (p.Arg411Gln) single nucleotide variant not specified [RCV004375851] Chr12:12827371 [GRCh38]
Chr12:12980305 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1248G>C (p.Glu416Asp) single nucleotide variant not specified [RCV004375852] Chr12:12829434 [GRCh38]
Chr12:12982368 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.1268G>A (p.Arg423His) single nucleotide variant not specified [RCV004375853] Chr12:12829454 [GRCh38]
Chr12:12982388 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.554A>C (p.Glu185Ala) single nucleotide variant not specified [RCV004375857] Chr12:12822076 [GRCh38]
Chr12:12975010 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_016355.4(DDX47):c.829C>G (p.Gln277Glu) single nucleotide variant not specified [RCV004375859] Chr12:12823948 [GRCh38]
Chr12:12976882 [GRCh37]
Chr12:12p13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1571
Count of miRNA genes:808
Interacting mature miRNAs:932
Transcripts:ENST00000352940, ENST00000358007, ENST00000392155, ENST00000426619, ENST00000535722, ENST00000541537, ENST00000542123, ENST00000542832, ENST00000544032, ENST00000544400, ENST00000544497, ENST00000545038
Prediction methods:Microtar, Miranda, Rnahybrid
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
SHGC-80741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371212,981,853 - 12,982,140UniSTSGRCh37
Build 361212,873,120 - 12,873,407RGDNCBI36
Celera1218,130,583 - 18,130,870RGD
Cytogenetic Map12p13.1UniSTS
HuRef1212,751,527 - 12,751,814UniSTS
TNG Radiation Hybrid Map124986.0UniSTS
D12S929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371212,982,434 - 12,982,840UniSTSGRCh37
Build 361212,873,701 - 12,874,107RGDNCBI36
Celera1218,131,164 - 18,131,570RGD
Cytogenetic Map12p13.1UniSTS
HuRef1212,752,108 - 12,752,514UniSTS
D12S1235E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371212,974,922 - 12,975,612UniSTSGRCh37
Build 361212,866,189 - 12,866,879RGDNCBI36
Celera1218,123,652 - 18,124,342RGD
Cytogenetic Map12p13.1UniSTS
HuRef1212,744,595 - 12,745,285UniSTS
A002Q26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371212,982,643 - 12,982,822UniSTSGRCh37
Build 361212,873,910 - 12,874,089RGDNCBI36
Celera1218,131,373 - 18,131,552RGD
Cytogenetic Map12p13.1UniSTS
HuRef1212,752,317 - 12,752,496UniSTS
GeneMap99-GB4 RH Map1249.69UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 7 7 7 4 79 3 3 5 26 1 40 8 4 1 2 2
Low 1199 1009 916 300 909 188 3004 526 932 250 945 1364 124 954 1568 4
Below cutoff 1083 1258 659 233 488 189 966 1186 1546 138 413 210 44 227 845

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF036507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000352940   ⟹   ENSP00000319578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,316 - 12,829,979 (+)Ensembl
RefSeq Acc Id: ENST00000358007   ⟹   ENSP00000350698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,346 - 12,829,981 (+)Ensembl
RefSeq Acc Id: ENST00000392155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,820,348 - 12,821,337 (+)Ensembl
RefSeq Acc Id: ENST00000426619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,346 - 12,821,969 (+)Ensembl
RefSeq Acc Id: ENST00000535722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,824,385 - 12,826,292 (+)Ensembl
RefSeq Acc Id: ENST00000541537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,316 - 12,825,107 (+)Ensembl
RefSeq Acc Id: ENST00000542123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,358 - 12,829,981 (+)Ensembl
RefSeq Acc Id: ENST00000542832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,820,277 - 12,823,259 (+)Ensembl
RefSeq Acc Id: ENST00000544032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,346 - 12,822,048 (+)Ensembl
RefSeq Acc Id: ENST00000544400   ⟹   ENSP00000444000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,360 - 12,824,567 (+)Ensembl
RefSeq Acc Id: ENST00000544497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,355 - 12,814,658 (+)Ensembl
RefSeq Acc Id: ENST00000545038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,813,354 - 12,829,979 (+)Ensembl
RefSeq Acc Id: NM_016355   ⟹   NP_057439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,813,346 - 12,829,981 (+)NCBI
GRCh371212,966,280 - 12,982,915 (+)RGD
Build 361212,857,547 - 12,874,182 (+)NCBI Archive
Celera1218,115,010 - 18,131,645 (+)RGD
HuRef1212,735,953 - 12,752,589 (+)RGD
CHM1_11212,931,661 - 12,948,296 (+)NCBI
T2T-CHM13v2.01212,686,924 - 12,703,560 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201224   ⟹   NP_957518
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,813,346 - 12,829,981 (+)NCBI
GRCh371212,966,280 - 12,982,915 (+)RGD
Build 361212,857,547 - 12,874,182 (+)NCBI Archive
Celera1218,115,010 - 18,131,645 (+)RGD
HuRef1212,735,953 - 12,752,589 (+)RGD
CHM1_11212,931,661 - 12,948,296 (+)NCBI
T2T-CHM13v2.01212,686,924 - 12,703,560 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_057439   ⟸   NM_016355
- Peptide Label: isoform 1
- UniProtKB: Q96NV8 (UniProtKB/Swiss-Prot),   Q96GM0 (UniProtKB/Swiss-Prot),   G5E955 (UniProtKB/Swiss-Prot),   B3KXP4 (UniProtKB/Swiss-Prot),   Q9UI98 (UniProtKB/Swiss-Prot),   Q9H0S4 (UniProtKB/Swiss-Prot),   Q9H4E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_957518   ⟸   NM_201224
- Peptide Label: isoform 2
- UniProtKB: Q9H4E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000444000   ⟸   ENST00000544400
RefSeq Acc Id: ENSP00000319578   ⟸   ENST00000352940
RefSeq Acc Id: ENSP00000350698   ⟸   ENST00000358007
Protein Domains
DEAD-box RNA helicase Q   Helicase ATP-binding   Helicase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0S4-F1-model_v2 AlphaFold Q9H0S4 1-455 view protein structure

Promoters
RGD ID:7223243
Promoter ID:EPDNEW_H17367
Type:initiation region
Name:DDX47_1
Description:DEAD-box helicase 47
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17364  EPDNEW_H17368  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,813,361 - 12,813,421EPDNEW
RGD ID:7223245
Promoter ID:EPDNEW_H17368
Type:initiation region
Name:DDX47_3
Description:DEAD-box helicase 47
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17364  EPDNEW_H17367  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,823,220 - 12,823,280EPDNEW
RGD ID:6789849
Promoter ID:HG_KWN:15078
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001RAX.1,   UC001RAY.1,   UC009ZHW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361212,857,359 - 12,857,859 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18682 AgrOrtholog
COSMIC DDX47 COSMIC
Ensembl Genes ENSG00000213782 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000352940 ENTREZGENE
  ENST00000352940.8 UniProtKB/Swiss-Prot
  ENST00000358007 ENTREZGENE
  ENST00000358007.7 UniProtKB/Swiss-Prot
  ENST00000544400.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213782 GTEx
HGNC ID HGNC:18682 ENTREZGENE
Human Proteome Map DDX47 Human Proteome Map
InterPro DDX47/Rrp3_DEADc 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:51202 UniProtKB/Swiss-Prot
NCBI Gene 51202 ENTREZGENE
OMIM 615428 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE RHLE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134918403 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 B3KXP4 ENTREZGENE
  DDX47_HUMAN UniProtKB/Swiss-Prot
  F5H1N9_HUMAN UniProtKB/TrEMBL
  G5E955 ENTREZGENE
  Q96GM0 ENTREZGENE
  Q96NV8 ENTREZGENE
  Q9H0S4 ENTREZGENE
  Q9H4E3 ENTREZGENE, UniProtKB/TrEMBL
  Q9UI98 ENTREZGENE
UniProt Secondary B3KXP4 UniProtKB/Swiss-Prot
  G5E955 UniProtKB/Swiss-Prot
  Q96GM0 UniProtKB/Swiss-Prot
  Q96NV8 UniProtKB/Swiss-Prot
  Q9UI98 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 DDX47  DEAD-box helicase 47    DEAD (Asp-Glu-Ala-Asp) box polypeptide 47  Symbol and/or name change 5135510 APPROVED