ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Fragile X mental retardation 1	LO000401F	FMR1	X	Xq27.3

Synonyms:
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM locus description GenBank sequence Integrated X Chromosome Database (IXDB) NCBI Genes and Disease HGMD PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: The gene encodes the fragile X mental retardation protein (FMRP), which has been implicated in RNA-binding and is possibly involved in translational control (Siomi et. al.1993). Fragile X syndrome, a common form of inherited mental retardation, was one of the first identified human disorders caused by dynamic mutation, a CGG trinucleotide repeat expansion located in the 5'-UTR of the gene FMR1. Fragile X syndrome is associated with a fragile site , designated FRAXA. Using exon-exon PCR and restriction analysis, the FMR1 gene has been determined to consist of 17 exons spanning 38 kb of Xq27.3 by Eichler et al. 1993. Within the 4.4 kb of FMR1 Transcript, a CGG trinucleotide repeat is located at the 5'- untranslated region (5'-UTR). CGG repeat can be categorized in at least four forms based on size of the repeat: full mutation (> 230 repeats), premutation (61-230 repeat), intermediate (41-60 repeat), and common (6-40 repeat) (Crawford et. al. 2001).

For more detailed information about fragile X syndrome, please see review article by Jin et. al. 2000.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description) dbSNP rs#
(Navigates to dbSNP
reference page) Chr-Position Status # Populations
typed
FRAXAC1 (version 1)     146794013 2
FRAXAC1 (version 2)     146794013 3
2-site haplotype(FRAXAC1, DXS548)     146794013 1
DXS548 Dinucleotide Repeat (version 1)     146803448 5
DXS548 Dinucleotide Repeat (version 2)     146803448 2
FRAXAC2     146813618 2
rs10521868 rs10521868    146991504 50
rs1805421 rs1805421    146994916 50
ATL1 rs4949    146999181 1
IVS10 rs25714    147018146 1
rs25704 rs25704    147031538 50
rs6626284 rs6626284    147035886 50
CGG trinucleotide repeat     3
2-site haplotype(CGG, FRAXAC1)     1
2-site haplotype(CGG, DXS548)     1

References:
- Crawford DC, Acuna JM, Sherman SL. "FMR1 and the fragile X syndrome: human genome epidemiology review". Genet Med. 3:359-71. . (2001) Online citation.

- Eichler EE, Richards S, Gibbs RA, Nelson DL. "Fine structure of the human FMR1 gene". Hum Mol Genet. 2:1147-53. (1993) Online citation.

- Jin P, Warren ST. "Understanding the molecular basis of fragile X syndrome". Hum Mol Genet. 9:901-8. (2000) Online citation.

- Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. "The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein". Cell 74:291-8. (1993) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan