SNORA50B (small nucleolar RNA, H/ACA box 50B) - Rat Genome Database

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Gene: SNORA50B (small nucleolar RNA, H/ACA box 50B) Homo sapiens
Analyze
Symbol: SNORA50B
Name: small nucleolar RNA, H/ACA box 50B
RGD ID: 12789684
HGNC Page HGNC:50432
Description: Predicted to be involved in RNA processing. Predicted to be located in nucleolus.
Type: snorna
RefSeq Status: VALIDATED
RGD Orthologs
Mouse
Dog
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382233,704,786 - 33,704,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2233,704,786 - 33,704,920 (-)EnsemblGRCh38hg38GRCh38
GRCh372234,100,772 - 34,100,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map22q12.3NCBI
T2T-CHM13v2.02234,162,229 - 34,162,363 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleolus  (IEA)

References
Additional References at PubMed
PMID:27174936  


Genomics

Comparative Map Data
SNORA50B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382233,704,786 - 33,704,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2233,704,786 - 33,704,920 (-)EnsemblGRCh38hg38GRCh38
GRCh372234,100,772 - 34,100,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map22q12.3NCBI
T2T-CHM13v2.02234,162,229 - 34,162,363 (-)NCBIT2T-CHM13v2.0
Gm22516
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39231,079,703 - 31,079,825 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl231,079,703 - 31,079,826 (+)EnsemblGRCm39 Ensembl
GRCm38231,189,691 - 31,189,813 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl231,189,691 - 31,189,814 (+)EnsemblGRCm38mm10GRCm38
Cytogenetic Map2BNCBI
LOC119873792
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1030,000,053 - 30,000,190 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01030,851,736 - 30,851,873 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11030,570,370 - 30,570,507 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01030,888,919 - 30,889,056 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01031,066,551 - 31,066,688 (+)NCBIUU_Cfam_GSD_1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3(chr22:33460734-33815605)x1 copy number loss See cases [RCV000142141] Chr22:33460734..33815605 [GRCh38]
Chr22:33856720..34211592 [GRCh37]
Chr22:32186720..32541592 [NCBI36]
Chr22:22q12.3		 uncertain significance
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q12.3(chr22:33456690-33741049)x1 copy number loss See cases [RCV000139657] Chr22:33456690..33741049 [GRCh38]
Chr22:33852676..34137036 [GRCh37]
Chr22:32182676..32467036 [NCBI36]
Chr22:22q12.3		 likely benign|uncertain significance
GRCh38/hg38 22q12.3(chr22:33380871-33754201)x1 copy number loss See cases [RCV000052874] Chr22:33380871..33754201 [GRCh38]
Chr22:33776857..34150188 [GRCh37]
Chr22:32106857..32480188 [NCBI36]
Chr22:22q12.3		 pathogenic
GRCh38/hg38 22q12.3(chr22:33687894-33711350)x1 copy number loss See cases [RCV000140768] Chr22:33687894..33711350 [GRCh38]
Chr22:34083880..34107336 [GRCh37]
Chr22:32413880..32437336 [NCBI36]
Chr22:22q12.3		 likely benign
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:262
Count of miRNA genes:223
Interacting mature miRNAs:236
Transcripts:ENST00000517198
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.


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 endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system nervous system renal system reproductive system respiratory system
High
Medium 1 2
Low 17 2 2 12 2 1 1 32 5
Below cutoff 10 8 7 7 7 6 1 6 6 7

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000517198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,704,786 - 33,704,920 (-)Ensembl
RefSeq Acc Id: NR_145833
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,704,786 - 33,704,920 (-)NCBI
T2T-CHM13v2.02234,162,229 - 34,162,363 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC SNORA50B COSMIC
Ensembl Genes ENSG00000253007 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000517198 ENTREZGENE
GTEx ENSG00000253007 GTEx
HGNC ID HGNC:50432 ENTREZGENE
Human Proteome Map SNORA50B Human Proteome Map
NCBI Gene SNORA50B ENTREZGENE
RNAcentral URS00006CD075 RNACentral