RNVU1-31 (RNA, variant U1 small nuclear 31) - Rat Genome Database

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Gene: RNVU1-31 (RNA, variant U1 small nuclear 31) Homo sapiens
Analyze
Symbol: RNVU1-31
Name: RNA, variant U1 small nuclear 31
RGD ID: 16565644
HGNC Page HGNC:54448
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: LOC124904619; U1; U1 spliceosomal RNA
RGD Orthologs
Mouse
Dog
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,465,617 - 145,465,780 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,465,617 - 145,465,780 (-)EnsemblGRCh38hg38GRCh38
Cytogenetic Map1q21.1NCBI
T2T-CHM13v2.01144,582,485 - 144,582,648 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Genomics

Comparative Map Data
RNVU1-31
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,465,617 - 145,465,780 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,465,617 - 145,465,780 (-)EnsemblGRCh38hg38GRCh38
Cytogenetic Map1q21.1NCBI
T2T-CHM13v2.01144,582,485 - 144,582,648 (-)NCBIT2T-CHM13v2.0
Gm22614
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39396,396,045 - 96,396,209 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl396,396,045 - 96,396,209 (+)EnsemblGRCm39 Ensembl
GRCm38396,488,729 - 96,488,893 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl396,488,729 - 96,488,893 (+)EnsemblGRCm38mm10GRCm38
Cytogenetic Map3F2.1NCBI
LOC119867884
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha36616,874 - 617,037 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.036597,371 - 597,534 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl36597,371 - 597,534 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.136602,995 - 603,158 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.036666,036 - 666,199 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.036679,833 - 679,996 (+)NCBIUU_Cfam_GSD_1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1 copy number loss See cases [RCV000134757] Chr1:145138148..146401981 [GRCh38]
Chr1:149155041..149699396 [GRCh37]
Chr1:147421665..147966020 [NCBI36]
Chr1:1q21.1		 benign
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3 copy number gain See cases [RCV000135720] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1 copy number loss See cases [RCV000053728] Chr1:145335791..146944906 [GRCh38]
Chr1:145271814..147848311 [GRCh37]
Chr1:143983171..146314935 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3 copy number gain See cases [RCV000053580] Chr1:145335791..146127929 [GRCh38]
Chr1:145310253..145899398 [GRCh37]
Chr1:144021610..144610755 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
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 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3 copy number gain See cases [RCV000053579] Chr1:145335791..146146477 [GRCh38]
Chr1:145291698..146037042 [GRCh37]
Chr1:144003055..144748399 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1 copy number loss See cases [RCV000053732] Chr1:145335791..146133507 [GRCh38]
Chr1:145304668..145738275 [GRCh37]
Chr1:144016025..144449632 [NCBI36]
Chr1:1q21.1		 pathogenic

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
646 510 769 372 1647 614 766 3 203 455 135 1161 1533 1664 29 1091 172 789 557 77

Sequence


Ensembl Acc Id: ENST00000605806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,465,617 - 145,465,780 (-)Ensembl
RefSeq Acc Id: NR_189289
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,465,617 - 145,465,780 (-)NCBI
T2T-CHM13v2.01144,582,485 - 144,582,648 (-)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC RNVU1-31 COSMIC
Ensembl Genes ENSG00000270722 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000605806 ENTREZGENE
GTEx ENSG00000270722 GTEx
HGNC ID HGNC:54448 ENTREZGENE
Human Proteome Map RNVU1-31 Human Proteome Map
NCBI Gene RNVU1-31 ENTREZGENE
RNAcentral URS000063B690 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-11-23 RNVU1-31  RNA, variant U1 small nuclear 31  RNVU1-31  RNA, variant U1 small nuclear 31  Data Merged 737654 PROVISIONAL
2022-10-20 RNVU1-31  RNA, variant U1 small nuclear 31  LOC124904619  U1 spliceosomal RNA  Symbol and/or name change 19259462 PROVISIONAL
2022-04-12 LOC124904619  U1 spliceosomal RNA  U1  U1 spliceosomal RNA  Symbol and/or name change 5135510 APPROVED