RNVU1-4 (RNA, variant U1 small nuclear 4) - Rat Genome Database

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Gene: RNVU1-4 (RNA, variant U1 small nuclear 4) Homo sapiens
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Symbol: RNVU1-4
Name: RNA, variant U1 small nuclear 4
RGD ID: 7254608
HGNC Page HGNC:48312
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: RNA, variant U1 small nuclear 5; RNU1-102; RNU1-110; RNU1-50; RNVU1-20; RNVU1-5; vU1.20; vU1.4; vU1.5
RGD Orthologs
Mouse
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
GRCh381120,942,600 - 120,942,763 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1120,942,600 - 120,942,763 (+)EnsemblGRCh38hg38GRCh38
GRCh371144,311,213 - 144,311,376 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1p11.2NCBI
CHM1_11121,600,690 - 121,600,853 (+)NCBICHM1_1
T2T-CHM13v2.01120,951,991 - 120,952,154 (+)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

Cellular Component
U1 snRNP  (IEA)

Molecular Function

References
Additional References at PubMed
PMID:23070852  


Genomics

Comparative Map Data
RNVU1-4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381120,942,600 - 120,942,763 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1120,942,600 - 120,942,763 (+)EnsemblGRCh38hg38GRCh38
GRCh371144,311,213 - 144,311,376 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1p11.2NCBI
CHM1_11121,600,690 - 121,600,853 (+)NCBICHM1_1
T2T-CHM13v2.01120,951,991 - 120,952,154 (+)NCBIT2T-CHM13v2.0
Gm23928
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39791,316,357 - 91,316,497 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl791,316,357 - 91,316,501 (-)EnsemblGRCm39 Ensembl
GRCm38791,667,149 - 91,667,289 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl791,667,149 - 91,667,293 (-)EnsemblGRCm38mm10GRCm38
Cytogenetic Map7E1NCBI
LOC120098357
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81863,314,627 - 63,314,791 (-)NCBIGRCr8
mRatBN7.21861,044,741 - 61,044,905 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1861,044,741 - 61,044,905 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0 Ensembl1863,230,007 - 63,230,171 (-)NCBIRnor6.0rn6Rnor6.0
Cytogenetic Map18q12.1NCBI


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22		 pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human


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
renal system
reproductive system
respiratory system
sensory system
783 1263 848 687 2417 991 1219 3 229 1185 139 1319 2841 3021 49 1633 262 799 993 100

Sequence


Ensembl Acc Id: ENST00000612985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1120,942,600 - 120,942,763 (+)Ensembl
RefSeq Acc Id: NR_104073
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381120,942,600 - 120,942,763 (+)NCBI
CHM1_11121,600,690 - 121,600,853 (+)NCBI
T2T-CHM13v2.01120,951,991 - 120,952,154 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC RNVU1-4 COSMIC
Ensembl Genes ENSG00000277610 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000612985 ENTREZGENE
GTEx ENSG00000277610 GTEx
HGNC ID HGNC:48312 ENTREZGENE
Human Proteome Map RNVU1-4 Human Proteome Map
NCBI Gene RNVU1-4 ENTREZGENE
RNAcentral URS0000681820 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-09 RNVU1-4  RNA, variant U1 small nuclear 4  RNVU1-5  RNA, variant U1 small nuclear 5  Data merged from RGD:7249836 737654 PROVISIONAL