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
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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:
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).
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