SNORD114-22 (small nucleolar RNA, C/D box 114-22) - Rat Genome Database

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Gene: SNORD114-22 (small nucleolar RNA, C/D box 114-22) Homo sapiens
Analyze
No known orthologs.
Symbol: SNORD114-22
Name: small nucleolar RNA, C/D box 114-22
RGD ID: 1602348
HGNC Page HGNC:33010
Description: Predicted to be involved in RNA processing. Predicted to be located in nucleolus; INTERACTS WITH 2-hydroxypropanoic acid; benzo[a]pyrene; bisphenol A.
Type: snorna
RefSeq Status: VALIDATED
Previously known as: 14q(II-22)
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814100,982,926 - 100,982,996 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14100,982,926 - 100,982,997 (+)EnsemblGRCh38hg38GRCh38
GRCh3714101,449,263 - 101,449,333 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614100,519,016 - 100,519,086 (+)NCBINCBI36Build 36hg18NCBI36
Celera1481,505,263 - 81,505,333 (+)NCBICelera
Cytogenetic Map14q32.31NCBI
HuRef1481,632,716 - 81,632,786 (+)NCBIHuRef
CHM1_114101,387,390 - 101,387,460 (+)NCBICHM1_1
T2T-CHM13v2.01495,218,358 - 95,218,428 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
nucleolus  (IEA)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:12045206   PMID:19446021  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1 copy number loss See cases [RCV000139723] Chr14:100262836..102500697 [GRCh38]
Chr14:100729173..102967034 [GRCh37]
Chr14:99798926..102036787 [NCBI36]
Chr14:14q32.2-32.31		 pathogenic
GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1 copy number loss See cases [RCV000142774] Chr14:99930669..101022599 [GRCh38]
Chr14:100397006..101488936 [GRCh37]
Chr14:99466759..100558689 [NCBI36]
Chr14:14q32.2-32.31		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NC_000014.9:g.100806482_101281031del474550 deletion Paternal uniparental disomy of chromosome 14 [RCV000149429] Chr14:100806482..101281031 [GRCh38]
Chr14:101272819..101747368 [GRCh37]
Chr14:14q32.2-32.31		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:55
Count of miRNA genes:45
Interacting mature miRNAs:46
Transcripts:ENST00000365423
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 circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 1
Low 4 5 15 6 11 6 7 6 27 1 14 13 1 4
Below cutoff 2 2 10 3 4 3 6 8 15 4 2 2 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000365423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14100,982,926 - 100,982,997 (+)Ensembl
RefSeq Acc Id: NR_003215
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814100,982,926 - 100,982,996 (+)NCBI
GRCh3714101,449,263 - 101,449,333 (+)RGD
Build 3614100,519,016 - 100,519,086 (+)NCBI Archive
Celera1481,505,263 - 81,505,333 (+)RGD
HuRef1481,632,716 - 81,632,786 (+)ENTREZGENE
CHM1_114101,387,390 - 101,387,460 (+)NCBI
T2T-CHM13v2.01495,218,358 - 95,218,428 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC SNORD114-22 COSMIC
Ensembl Genes ENSG00000202293 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000365423 ENTREZGENE
GTEx ENSG00000202293 GTEx
HGNC ID HGNC:33010 ENTREZGENE
Human Proteome Map SNORD114-22 Human Proteome Map
NCBI Gene 767600 ENTREZGENE
PharmGKB PA162404194 PharmGKB
RNAcentral URS000075A044 RNACentral