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RefSeq Gene
## RefSeq Gene SNRPN RefSeq: NM_022806.2 Status: Reviewed CCDS: CCDS10017.1 CDS: full length
OMIM: 182279 Entrez Gene: 6638 PubMed on Gene: SNRPN PubMed on Product: small nuclear ribonucleoprotein polypeptide N GeneLynx SNRPN GeneCards: SNRPN AceView: SNRPN Stanford SOURCE: NM_022806
### Summary of SNRPN The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. ### mRNA/Genomic Alignments
     SIZE IDENTITY CHROMOSOME  STRAND    START     END              QUERY      START  END  TOTAL
    --------------------------------------------------------------------------------------------
     1616  100.0%         15     +  22619887  22774822             NM_022806     1  1616  1616
Position: chr15:22619887-22774822 Band: 15q11.2 Genomic Size: 154936 Strand: + ### Links to sequence: Predicted Protein mRNA Sequence may be different from the genomic sequence. Genomic Sequence from assembly View table schema ## Description The RefSeq Genes track shows known protein-coding genes taken from the NCBI mRNA reference sequences collection (RefSeq). On assemblies in which incremental GenBank downloads are supported, the data underlying this track are updated nightly. ## Display Conventions and Configuration This track follows the display conventions for gene prediction tracks. The color shading indicates the level of review the RefSeq record has undergone: predicted (light), provisional (medium), reviewed (dark). In some assemblies, non-coding RNA genes are shown in a separate track. The item labels and display colors of features within this track can be configured through the controls at the top of the track description page. This page is accessed via the small button to the left of the track's graphical display or through the link on the track's control menu. Label: By default, items are labeled by gene name. Click the appropriate Label option to display the accession name instead of the gene name, show both the gene and accession names, or turn off the label completely. Codon coloring: This track contains an optional codon coloring feature that allows users to quickly validate and compare gene predictions. To display codon colors, select the genomic codons option from the Color track by codons pull-down menu. Click here for more information about this feature. ## Methods RefSeq mRNAs were aligned against the human genome using blat; those with an alignment of less than 15% were discarded. When a single mRNA aligned in multiple places, the alignment having the highest base identity was identified. Only alignments having a base identity level within 0.1% of the best and at least 96% base identity with the genomic sequence were kept. ## Credits This track was produced at UCSC from mRNA sequence data generated by scientists worldwide and curated by the NCBI RefSeq project. ## References Kent, W.J. BLAT - the BLAST-like alignment tool. Genome Res. 12(4), 656-664 (2002). |