DUS3L (dihydrouridine synthase 3 like) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: DUS3L (dihydrouridine synthase 3 like) Homo sapiens
Analyze
Symbol: DUS3L
Name: dihydrouridine synthase 3 like
RGD ID: 1604330
HGNC Page HGNC:26920
Description: Enables mRNA dihydrouridine synthase activity and tRNA dihydrouridine synthase activity. Involved in regulation of translation and tRNA dihydrouridine synthesis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: dihydrouridine synthase 3-like; DUS3; FLJ13896; mRNA-dihydrouridine synthase DUS3L; tRNA-dihydrouridine synthase 3-like; tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like
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
GRCh38195,785,140 - 5,791,163 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl195,784,832 - 5,791,225 (-)EnsemblGRCh38hg38GRCh38
GRCh37195,785,151 - 5,791,174 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36195,736,151 - 5,742,192 (-)NCBINCBI36Build 36hg18NCBI36
Celera195,723,144 - 5,730,021 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef195,546,085 - 5,552,589 (-)NCBIHuRef
CHM1_1195,785,079 - 5,791,308 (-)NCBICHM1_1
T2T-CHM13v2.0195,771,937 - 5,778,591 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:21832049   PMID:21873635   PMID:22681889   PMID:22863883   PMID:24104479   PMID:24163370   PMID:24623722  
PMID:26186194   PMID:26344197   PMID:28514442   PMID:29229926   PMID:29467282   PMID:29845934   PMID:30561431   PMID:31091453   PMID:31586073   PMID:32203420   PMID:32572027   PMID:32814053  
PMID:33742100   PMID:33961781   PMID:34011540   PMID:34556860   PMID:34798057   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35563538   PMID:35944360   PMID:36215168  
PMID:37827155  


Genomics

Comparative Map Data
DUS3L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38195,785,140 - 5,791,163 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl195,784,832 - 5,791,225 (-)EnsemblGRCh38hg38GRCh38
GRCh37195,785,151 - 5,791,174 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36195,736,151 - 5,742,192 (-)NCBINCBI36Build 36hg18NCBI36
Celera195,723,144 - 5,730,021 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef195,546,085 - 5,552,589 (-)NCBIHuRef
CHM1_1195,785,079 - 5,791,308 (-)NCBICHM1_1
T2T-CHM13v2.0195,771,937 - 5,778,591 (-)NCBIT2T-CHM13v2.0
Dus3l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,069,224 - 57,077,093 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,071,757 - 57,077,093 (+)EnsemblGRCm39 Ensembl
GRCm381756,764,751 - 56,770,093 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,764,757 - 56,770,093 (+)EnsemblGRCm38mm10GRCm38
MGSCv371756,904,174 - 56,909,516 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361756,449,902 - 56,454,965 (+)NCBIMGSCv36mm8
Celera1761,108,892 - 61,114,234 (+)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.5NCBI
Dus3l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr891,680,619 - 1,685,784 (+)NCBIGRCr8
mRatBN7.291,593,491 - 1,598,663 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl91,594,123 - 1,598,655 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx92,028,265 - 2,032,806 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.097,377,380 - 7,381,917 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,333,460 - 6,338,001 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0910,289,440 - 10,294,213 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl910,289,446 - 10,293,980 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.099,286,520 - 9,291,291 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,918,090 - 6,922,626 (-)NCBICelera
Cytogenetic Map9q11NCBI
Dus3l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554953,653,257 - 3,660,331 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554953,653,613 - 3,660,331 (+)NCBIChiLan1.0ChiLan1.0
DUS3L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22010,179,205 - 10,186,888 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1199,403,225 - 9,413,083 (-)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl195,731,457 - 5,737,775 (-)Ensemblpanpan1.1panPan2
DUS3L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12054,250,369 - 54,255,981 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2054,250,871 - 54,255,995 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,977,808 - 53,983,421 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,902,723 - 54,908,336 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,903,204 - 54,908,350 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,969,030 - 53,974,635 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02054,449,603 - 54,455,181 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02054,646,813 - 54,652,426 (+)NCBIUU_Cfam_GSD_1.0
Dus3l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118214,497,957 - 214,502,948 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365883,331,904 - 3,337,277 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365883,331,563 - 3,337,276 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DUS3L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl273,197,669 - 73,204,977 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1273,197,614 - 73,202,676 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2273,719,549 - 73,724,598 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DUS3L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.165,430,558 - 5,437,638 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl65,430,580 - 5,437,452 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660812,627,456 - 2,630,452 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dus3l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248284,431,167 - 4,437,365 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248284,431,172 - 4,437,459 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DUS3L
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_020175.3(DUS3L):c.1621A>G (p.Ile541Val) single nucleotide variant not specified [RCV004325124] Chr19:5785733 [GRCh38]
Chr19:5785744 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_020175.3(DUS3L):c.1810T>C (p.Tyr604His) single nucleotide variant not specified [RCV004298013] Chr19:5785453 [GRCh38]
Chr19:5785464 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:5455422-5995450)x3 copy number gain not provided [RCV000740012] Chr19:5455422..5995450 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:5543902-5787595)x3 copy number gain not provided [RCV000740015] Chr19:5543902..5787595 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:5655792-5867913)x3 copy number gain not provided [RCV000740016] Chr19:5655792..5867913 [GRCh37]
Chr19:19p13.3		 benign
NM_020175.3(DUS3L):c.1477C>G (p.Pro493Ala) single nucleotide variant not specified [RCV004288518] Chr19:5786758 [GRCh38]
Chr19:5786769 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1406G>A (p.Arg469Gln) single nucleotide variant not specified [RCV004294902] Chr19:5786829 [GRCh38]
Chr19:5786840 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_5678562)_(5903719_?)dup duplication not provided [RCV002239957] Chr19:5678562..5903719 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.799G>A (p.Ala267Thr) single nucleotide variant not specified [RCV004261841] Chr19:5789308 [GRCh38]
Chr19:5789319 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_5678562)_(5897028_?)dup duplication not provided [RCV001918791] Chr19:5678562..5897028 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.287A>C (p.Gln96Pro) single nucleotide variant not specified [RCV004329181] Chr19:5790147 [GRCh38]
Chr19:5790158 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.520G>A (p.Gly174Ser) single nucleotide variant not specified [RCV004226538] Chr19:5789587 [GRCh38]
Chr19:5789598 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.698G>A (p.Arg233His) single nucleotide variant not specified [RCV004088256] Chr19:5789409 [GRCh38]
Chr19:5789420 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1523G>A (p.Arg508His) single nucleotide variant not specified [RCV004127369] Chr19:5786506 [GRCh38]
Chr19:5786517 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1822C>T (p.Arg608Cys) single nucleotide variant not specified [RCV004088350] Chr19:5785441 [GRCh38]
Chr19:5785452 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.767G>A (p.Arg256Lys) single nucleotide variant not specified [RCV004212827] Chr19:5789340 [GRCh38]
Chr19:5789351 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.982G>A (p.Gly328Arg) single nucleotide variant not specified [RCV004091071] Chr19:5788137 [GRCh38]
Chr19:5788148 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.986C>T (p.Ala329Val) single nucleotide variant not specified [RCV004240742] Chr19:5788133 [GRCh38]
Chr19:5788144 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1876A>C (p.Ile626Leu) single nucleotide variant not specified [RCV004204246] Chr19:5785387 [GRCh38]
Chr19:5785398 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1838C>T (p.Thr613Met) single nucleotide variant not specified [RCV004181446] Chr19:5785425 [GRCh38]
Chr19:5785436 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1478C>T (p.Pro493Leu) single nucleotide variant not specified [RCV004203665] Chr19:5786757 [GRCh38]
Chr19:5786768 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.435C>G (p.His145Gln) single nucleotide variant not specified [RCV004106922] Chr19:5789672 [GRCh38]
Chr19:5789683 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.700C>T (p.Arg234Trp) single nucleotide variant not specified [RCV004111851] Chr19:5789407 [GRCh38]
Chr19:5789418 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.911G>A (p.Arg304His) single nucleotide variant not specified [RCV004086174] Chr19:5788388 [GRCh38]
Chr19:5788399 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.229C>G (p.Leu77Val) single nucleotide variant not specified [RCV004087036] Chr19:5790205 [GRCh38]
Chr19:5790216 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.155A>C (p.Lys52Thr) single nucleotide variant not specified [RCV004197875] Chr19:5790279 [GRCh38]
Chr19:5790290 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.397G>A (p.Ala133Thr) single nucleotide variant not specified [RCV004166445] Chr19:5789710 [GRCh38]
Chr19:5789721 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1715G>A (p.Arg572Gln) single nucleotide variant not specified [RCV004212343] Chr19:5785639 [GRCh38]
Chr19:5785650 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1664A>C (p.Asn555Thr) single nucleotide variant not specified [RCV004258290] Chr19:5785690 [GRCh38]
Chr19:5785701 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.350A>T (p.Asn117Ile) single nucleotide variant not specified [RCV004254984] Chr19:5790084 [GRCh38]
Chr19:5790095 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.568A>C (p.Asn190His) single nucleotide variant not specified [RCV004266039] Chr19:5789539 [GRCh38]
Chr19:5789550 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.977G>A (p.Arg326His) single nucleotide variant not specified [RCV004263270] Chr19:5788142 [GRCh38]
Chr19:5788153 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1462G>A (p.Ala488Thr) single nucleotide variant not specified [RCV004267931] Chr19:5786773 [GRCh38]
Chr19:5786784 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1454G>A (p.Cys485Tyr) single nucleotide variant not specified [RCV004294852] Chr19:5786781 [GRCh38]
Chr19:5786792 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1183G>A (p.Gly395Ser) single nucleotide variant not specified [RCV004255455] Chr19:5787618 [GRCh38]
Chr19:5787629 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1090G>A (p.Val364Ile) single nucleotide variant not specified [RCV004259330] Chr19:5788029 [GRCh38]
Chr19:5788040 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1925C>T (p.Pro642Leu) single nucleotide variant not specified [RCV004347830] Chr19:5785231 [GRCh38]
Chr19:5785242 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1729G>C (p.Glu577Gln) single nucleotide variant not specified [RCV004358330] Chr19:5785625 [GRCh38]
Chr19:5785636 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1522C>T (p.Arg508Cys) single nucleotide variant not specified [RCV004347958] Chr19:5786507 [GRCh38]
Chr19:5786518 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_020175.3(DUS3L):c.1357G>A (p.Glu453Lys) single nucleotide variant not specified [RCV004379614] Chr19:5787093 [GRCh38]
Chr19:5787104 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.280G>C (p.Gly94Arg) single nucleotide variant not specified [RCV004379618] Chr19:5790154 [GRCh38]
Chr19:5790165 [GRCh37]
Chr19:19p13.3		 likely benign
NM_020175.3(DUS3L):c.899G>A (p.Arg300Gln) single nucleotide variant not specified [RCV004379619] Chr19:5789208 [GRCh38]
Chr19:5789219 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1256A>G (p.Gln419Arg) single nucleotide variant not specified [RCV004379613] Chr19:5787318 [GRCh38]
Chr19:5787329 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1762G>A (p.Val588Met) single nucleotide variant not specified [RCV004379616] Chr19:5785501 [GRCh38]
Chr19:5785512 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1778G>A (p.Arg593Gln) single nucleotide variant not specified [RCV004379617] Chr19:5785485 [GRCh38]
Chr19:5785496 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.985G>T (p.Ala329Ser) single nucleotide variant not specified [RCV004379620] Chr19:5788134 [GRCh38]
Chr19:5788145 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_020175.3(DUS3L):c.1748G>A (p.Cys583Tyr) single nucleotide variant not specified [RCV004379615] Chr19:5785606 [GRCh38]
Chr19:5785617 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4760
Count of miRNA genes:994
Interacting mature miRNAs:1245
Transcripts:ENST00000309061, ENST00000320699, ENST00000585587, ENST00000589085, ENST00000589841, ENST00000589854, ENST00000590087, ENST00000590110, ENST00000590343, ENST00000590681, ENST00000591560, ENST00000592468, ENST00000592491, ENST00000592673, ENST00000593229
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH98517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,785,203 - 5,785,449UniSTSGRCh37
Build 36195,736,203 - 5,736,449RGDNCBI36
Celera195,723,196 - 5,723,442RGD
Cytogenetic Map19p13.3UniSTS
HuRef195,546,137 - 5,546,383UniSTS
GeneMap99-GB4 RH Map1934.07UniSTS


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 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001161619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF074704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA839738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000309061   ⟹   ENSP00000311977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,785,140 - 5,791,163 (-)Ensembl
Ensembl Acc Id: ENST00000320699   ⟹   ENSP00000315558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,785,140 - 5,791,206 (-)Ensembl
Ensembl Acc Id: ENST00000585587   ⟹   ENSP00000468233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,789,251 - 5,790,954 (-)Ensembl
Ensembl Acc Id: ENST00000589085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,785,140 - 5,791,210 (-)Ensembl
Ensembl Acc Id: ENST00000589841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,785,456 - 5,785,999 (-)Ensembl
Ensembl Acc Id: ENST00000589854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,789,937 - 5,791,210 (-)Ensembl
Ensembl Acc Id: ENST00000590087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,787,247 - 5,788,170 (-)Ensembl
Ensembl Acc Id: ENST00000590110   ⟹   ENSP00000465369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,788,024 - 5,791,225 (-)Ensembl
Ensembl Acc Id: ENST00000590343   ⟹   ENSP00000466351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,784,832 - 5,785,755 (-)Ensembl
Ensembl Acc Id: ENST00000590681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,789,294 - 5,791,038 (-)Ensembl
Ensembl Acc Id: ENST00000591560   ⟹   ENSP00000467987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,785,456 - 5,788,176 (-)Ensembl
Ensembl Acc Id: ENST00000592468   ⟹   ENSP00000468075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,785,456 - 5,788,034 (-)Ensembl
Ensembl Acc Id: ENST00000592491   ⟹   ENSP00000467302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,789,134 - 5,790,265 (-)Ensembl
Ensembl Acc Id: ENST00000592673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,785,464 - 5,786,930 (-)Ensembl
Ensembl Acc Id: ENST00000593229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,787,556 - 5,788,122 (-)Ensembl
RefSeq Acc Id: NM_001161619   ⟹   NP_001155091
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,785,140 - 5,791,163 (-)NCBI
GRCh37195,785,151 - 5,791,249 (-)RGD
Celera195,723,144 - 5,730,021 (-)RGD
HuRef195,546,085 - 5,552,589 (-)ENTREZGENE
CHM1_1195,785,079 - 5,791,308 (-)NCBI
T2T-CHM13v2.0195,771,937 - 5,778,591 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020175   ⟹   NP_064560
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,785,140 - 5,791,163 (-)NCBI
GRCh37195,785,151 - 5,791,249 (-)RGD
Build 36195,736,151 - 5,742,192 (-)NCBI Archive
Celera195,723,144 - 5,730,021 (-)RGD
HuRef195,546,085 - 5,552,589 (-)ENTREZGENE
CHM1_1195,785,079 - 5,791,308 (-)NCBI
T2T-CHM13v2.0195,771,937 - 5,778,591 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027020   ⟹   XP_016882509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,785,140 - 5,791,163 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439111   ⟹   XP_047295067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,785,767 - 5,791,163 (-)NCBI
RefSeq Acc Id: XM_054321508   ⟹   XP_054177483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0195,771,937 - 5,778,591 (-)NCBI
RefSeq Acc Id: XM_054321509   ⟹   XP_054177484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0195,772,564 - 5,778,591 (-)NCBI
RefSeq Acc Id: XR_008485167
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0195,773,264 - 5,778,591 (-)NCBI
RefSeq Acc Id: XR_244033
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,786,467 - 5,791,163 (-)NCBI
GRCh37195,785,151 - 5,791,249 (-)NCBI
Sequence:
RefSeq Acc Id: NP_064560   ⟸   NM_020175
- Peptide Label: isoform 1
- UniProtKB: Q9H877 (UniProtKB/Swiss-Prot),   Q9BSU4 (UniProtKB/Swiss-Prot),   Q96HM5 (UniProtKB/Swiss-Prot),   Q9NPR1 (UniProtKB/Swiss-Prot),   Q96G46 (UniProtKB/Swiss-Prot),   B2RDV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155091   ⟸   NM_001161619
- Peptide Label: isoform 2
- UniProtKB: Q96G46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882509   ⟸   XM_017027020
- Peptide Label: isoform X1
- UniProtKB: B2RDV7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000311977   ⟸   ENST00000309061
Ensembl Acc Id: ENSP00000315558   ⟸   ENST00000320699
Ensembl Acc Id: ENSP00000468233   ⟸   ENST00000585587
Ensembl Acc Id: ENSP00000466351   ⟸   ENST00000590343
Ensembl Acc Id: ENSP00000465369   ⟸   ENST00000590110
Ensembl Acc Id: ENSP00000467987   ⟸   ENST00000591560
Ensembl Acc Id: ENSP00000468075   ⟸   ENST00000592468
Ensembl Acc Id: ENSP00000467302   ⟸   ENST00000592491
RefSeq Acc Id: XP_047295067   ⟸   XM_047439111
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177483   ⟸   XM_054321508
- Peptide Label: isoform X1
- UniProtKB: B2RDV7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177484   ⟸   XM_054321509
- Peptide Label: isoform X2
Protein Domains
C3H1-type   DUS-like FMN-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96G46-F1-model_v2 AlphaFold Q96G46 1-650 view protein structure

Promoters
RGD ID:6795363
Promoter ID:HG_KWN:28623
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:UC002MDC.1,   UC002MDD.1,   UC010DUK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36195,741,771 - 5,742,312 (-)MPROMDB
RGD ID:7238173
Promoter ID:EPDNEW_H24832
Type:initiation region
Name:DUS3L_1
Description:dihydrouridine synthase 3 like
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
GRCh38195,791,163 - 5,791,223EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26920 AgrOrtholog
COSMIC DUS3L COSMIC
Ensembl Genes ENSG00000141994 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000309061 ENTREZGENE
  ENST00000309061.12 UniProtKB/Swiss-Prot
  ENST00000320699 ENTREZGENE
  ENST00000320699.12 UniProtKB/Swiss-Prot
  ENST00000585587.1 UniProtKB/TrEMBL
  ENST00000590110.2 UniProtKB/TrEMBL
  ENST00000590343.1 UniProtKB/TrEMBL
  ENST00000591560.5 UniProtKB/TrEMBL
  ENST00000592468.5 UniProtKB/TrEMBL
  ENST00000592491.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc finger, CCCH-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141994 GTEx
HGNC ID HGNC:26920 ENTREZGENE
Human Proteome Map DUS3L Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUS-like_FMN-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA_hU_synthase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56931 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56931 ENTREZGENE
PANTHER TRNA-DIHYDROURIDINE(47) SYNTHASE [NAD(P)(+)]-LIKE UniProtKB/Swiss-Prot
  TRNA-DIHYDROURIDINE(47) SYNTHASE [NAD(P)(+)]-LIKE UniProtKB/Swiss-Prot
  TRNA-DIHYDROURIDINE(47) SYNTHASE [NAD(P)(+)]-LIKE UniProtKB/TrEMBL
  TRNA-DIHYDROURIDINE(47) SYNTHASE [NAD(P)(+)]-LIKE UniProtKB/TrEMBL
Pfam Dus UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671938 PharmGKB
PROSITE UPF0034 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FMN-linked oxidoreductases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RDV7 ENTREZGENE, UniProtKB/TrEMBL
  DUS3L_HUMAN UniProtKB/Swiss-Prot
  K7EJX8_HUMAN UniProtKB/TrEMBL
  K7EM42_HUMAN UniProtKB/TrEMBL
  K7EPA4_HUMAN UniProtKB/TrEMBL
  K7EQU9_HUMAN UniProtKB/TrEMBL
  K7ER20_HUMAN UniProtKB/TrEMBL
  K7ERF2_HUMAN UniProtKB/TrEMBL
  Q96G46 ENTREZGENE
  Q96HM5 ENTREZGENE
  Q9BSU4 ENTREZGENE
  Q9H877 ENTREZGENE
  Q9NPR1 ENTREZGENE
UniProt Secondary Q96HM5 UniProtKB/Swiss-Prot
  Q9BSU4 UniProtKB/Swiss-Prot
  Q9H877 UniProtKB/Swiss-Prot
  Q9NPR1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 DUS3L  dihydrouridine synthase 3 like    dihydrouridine synthase 3-like  Symbol and/or name change 5135510 APPROVED
2015-07-07 DUS3L  dihydrouridine synthase 3-like    dihydrouridine synthase 3-like (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED