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RefSeq Gene
## RefSeq Gene FMR1 RefSeq: NM_002024.3 Status: Provisional CCDS: CCDS14682.1 CDS: completeness unknown
OMIM: 309550 Entrez Gene: 2332 PubMed on Gene: FMR1 PubMed on Product: fragile X mental retardation 1 GeneLynx FMR1 GeneCards: FMR1 AceView: FMR1 Stanford SOURCE: NM_002024
### Summary of FMR1 X-linked mental retardation associated with marXq28, or fragile X syndrome, is characterized by moderate to severe mental retardation, macroorchidism, large ears, prominent jaw, and high-pitched jocular speech. Expression is variable, with mental retardation being the most common feature. This phenotype is associated with mutations in the FMR1 gene. McCabe et al. (1999) [PubMed 10398250] summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.[supplied by OMIM]. ### mRNA/Genomic Alignments
     SIZE IDENTITY CHROMOSOME  STRAND    START     END              QUERY      START  END  TOTAL
    --------------------------------------------------------------------------------------------
     4322   99.8%          X     + 146699055 146738157             NM_002024     1  4362  4362
Position: chrX:146699055-146738157 Band: Xq27.3 Genomic Size: 39103 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). |