Identity
HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
RNU12-1,RNU12L,RNU12P,dJ222E13.7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 267010
HGNC: 19380
Ensembl: ENSG00000276027
Variants:
dbSNP: 267010
ClinVar: 267010
TCGA: ENSG00000276027
COSMIC: RNU12
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33577674 | 2021 | The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability. | 6 |
| 34085356 | 2021 | Biallelic variants in RNU12 cause CDAGS syndrome. | 3 |
| 33577674 | 2021 | The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability. | 6 |
| 34085356 | 2021 | Biallelic variants in RNU12 cause CDAGS syndrome. | 3 |
| 27863452 | 2017 | Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. | 44 |
| 27863452 | 2017 | Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. | 44 |
| 25586593 | 2015 | Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. | 113 |
| 25586593 | 2015 | Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. | 113 |
Citation
Dessen P
RNU12 (RNA, U12 small nuclear)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72726/rnu12-(rna-u12-small-nuclear)
