The RNU4ATAC gene homepage

General information
Gene symbol RNU4ATAC
Gene name RNA, U4atac small nuclear (U12-dependent splicing)
Chromosome 2
Chromosomal band q14.2
Imprinted Unknown
Genomic reference NG_029832.1
Transcript reference NR_023343.1
Associated with diseases MOPD, MOPD1, RFMN
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 119
Unique public DNA variants reported 43
Individuals with public variants 86
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 07, 2023
Version RNU4ATAC:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 34016
Entrez Gene 100151683
PubMed articles RNU4ATAC
OMIM - Gene 601428
OMIM - Diseases MOPD1 (dwarfism, primordial, osteodysplastic, microcephalic, type 1 (MOPD-1, Taybi-Linder syndrome))
RFMN (Roifman syndrome (RFMN))
GeneCards RNU4ATAC
GeneTests RNU4ATAC
Orphanet RNU4ATAC

Active transcripts




NCBI ID     

NCBI Protein ID     

00017971 2 RNA, U4atac small nuclear (U12-dependent splicing) NR_023343.1 - 119

Copyright & disclaimer
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