RNU1-3 (RNA, U1 small nuclear 3) - Rat Genome Database

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Gene: RNU1-3 (RNA, U1 small nuclear 3) Homo sapiens
Analyze
Symbol: RNU1-3
Name: RNA, U1 small nuclear 3
RGD ID: 1349662
HGNC Page HGNC:10130
Description: Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP.
Type: snrna
RefSeq Status: VALIDATED
Previously known as: HSD4; LOC124905808; RNU1G3; U1 spliceosomal RNA; U1C21
RGD Orthologs
Dog
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
GRCh38116,666,785 - 16,666,948 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,666,785 - 16,666,948 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,993,280 - 16,993,443 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera115,320,574 - 15,320,737 (-)NCBICelera
Cytogenetic Map1p36.13NCBI
CHM1_1117,101,632 - 17,101,795 (-)NCBICHM1_1
T2T-CHM13v2.0116,382,374 - 16,382,537 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

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

Biological Process

Cellular Component
U1 snRNP  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:3837185   PMID:6179629   PMID:29117863  


Genomics

Comparative Map Data
RNU1-3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,666,785 - 16,666,948 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,666,785 - 16,666,948 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,993,280 - 16,993,443 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera115,320,574 - 15,320,737 (-)NCBICelera
Cytogenetic Map1p36.13NCBI
CHM1_1117,101,632 - 17,101,795 (-)NCBICHM1_1
T2T-CHM13v2.0116,382,374 - 16,382,537 (-)NCBIT2T-CHM13v2.0
LOC119871041
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.0174,235,253 - 74,235,416 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl174,235,253 - 74,235,416 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1174,044,089 - 74,044,244 (+)NCBIUMICH_Zoey_3.1
UU_Cfam_GSD_1.0174,516,105 - 74,516,268 (+)NCBIUU_Cfam_GSD_1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.13(chr1:16600282-16722267)x1 copy number loss See cases [RCV000136213] Chr1:16600282..16722267 [GRCh38]
Chr1:16926777..17048762 [GRCh37]
Chr1:16799364..16921349 [NCBI36]
Chr1:1p36.13		 benign
GRCh38/hg38 1p36.13(chr1:16637078-16727421)x1 copy number loss See cases [RCV000136512] Chr1:16637078..16727421 [GRCh38]
Chr1:16963573..17053916 [GRCh37]
Chr1:16836160..16926503 [NCBI36]
Chr1:1p36.13		 benign
GRCh38/hg38 1p36.13(chr1:16621632-16905322)x1 copy number loss See cases [RCV000135910] Chr1:16621632..16905322 [GRCh38]
Chr1:16948127..17231817 [GRCh37]
Chr1:16820714..17104404 [NCBI36]
Chr1:1p36.13		 benign
GRCh38/hg38 1p36.13(chr1:16615158-16905322)x3 copy number gain See cases [RCV000135921] Chr1:16615158..16905322 [GRCh38]
Chr1:16941653..17231817 [GRCh37]
Chr1:16814240..17104404 [NCBI36]
Chr1:1p36.13		 benign
GRCh38/hg38 1p36.13(chr1:16487877-16778041)x3 copy number gain See cases [RCV000136781] Chr1:16487877..16778041 [GRCh38]
Chr1:16814372..17104536 [GRCh37]
Chr1:16686959..16977123 [NCBI36]
Chr1:1p36.13		 benign
GRCh38/hg38 1p36.13(chr1:16487877-16778041)x1 copy number loss See cases [RCV000136782] Chr1:16487877..16778041 [GRCh38]
Chr1:16814372..17104536 [GRCh37]
Chr1:16686959..16977123 [NCBI36]
Chr1:1p36.13		 benign
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 copy number loss See cases [RCV000138070] Chr1:15681812..19662339 [GRCh38]
Chr1:16008307..19988832 [GRCh37]
Chr1:15880894..19861419 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.13(chr1:16600450-16761944)x3 copy number gain See cases [RCV000139053] Chr1:16600450..16761944 [GRCh38]
Chr1:16926945..17088439 [GRCh37]
Chr1:16799532..16961026 [NCBI36]
Chr1:1p36.13		 likely benign
GRCh38/hg38 1p36.13(chr1:16600450-16856300)x3 copy number gain See cases [RCV000139689] Chr1:16600450..16856300 [GRCh38]
Chr1:16926945..17182795 [GRCh37]
Chr1:16799532..17055382 [NCBI36]
Chr1:1p36.13		 likely benign
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 copy number gain See cases [RCV000051799] Chr1:13619979..18466172 [GRCh38]
Chr1:13946474..18792666 [GRCh37]
Chr1:13819061..18665253 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1 copy number loss See cases [RCV000053769] Chr1:15173497..18242678 [GRCh38]
Chr1:15499993..18569172 [GRCh37]
Chr1:15372580..18441759 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1 copy number loss See cases [RCV000053771] Chr1:15173497..17019576 [GRCh38]
Chr1:15499993..17346071 [GRCh37]
Chr1:15372580..17218658 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:155
Count of miRNA genes:149
Interacting mature miRNAs:154
Transcripts:ENST00000384782
Prediction methods: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
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
3 8 7 8 25 4 8 3 6 2 5 23 21 26 3 12 4 1

Sequence


Ensembl Acc Id: ENST00000384782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,666,785 - 16,666,948 (-)Ensembl
RefSeq Acc Id: NR_004408
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,666,785 - 16,666,948 (-)NCBI
CHM1_1117,101,632 - 17,101,795 (-)NCBI
T2T-CHM13v2.0116,382,374 - 16,382,537 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC RNU1-3 COSMIC
Ensembl Genes ENSG00000207513 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000384782 ENTREZGENE
GTEx ENSG00000207513 GTEx
HGNC ID HGNC:10130 ENTREZGENE
Human Proteome Map RNU1-3 Human Proteome Map
NCBI Gene 26869 ENTREZGENE
PharmGKB PA34490 PharmGKB
RNAcentral URS000032B6B6 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-03-23 RNU1-3  RNA, U1 small nuclear 3  LOC124905808  U1 spliceosomal RNA  Data merged from RGD:151674908 737654 PROVISIONAL
2014-09-24 RNU1-3  RNA, U1 small nuclear 3  RNU1C2  RNA, U1C2 small nuclear  Symbol and/or name change 5135510 APPROVED