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

NameALFRED UIDLocus SymbolChromosomeBand Position
Ataxia telangiectasia mutated (includes complementation groups A, C and D)LO000297SATM1111q22-q23
Synonyms: AT ; AT1 ; TPLL ; T-PLL ; T-cell prolymphocytic leukemia ; ATA ; ATC ; ATD ; ATDC ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   GenBank sequence   GenBank sequence   GenBank sequence    NCBI Genes and Disease    Ataxia-Telangiectasia Mutation Database    Ataxia-Telangiectasia and variants   GeneSNPs SNPs information    UniGene   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: The gene responsible for ataxia telangiectasia (A-T), an autosomal recessive disorder, is ATM (ataxia-telangiectasia mutant). The ATM gene product is a member of the phosphatidylinositol-3-kinase superfamily and has important roles in cell cycle control and radiation signal transduction (Jackson, 1995 [PubMed ID: 8574569], Lavin, 1995 [PubMed ID: 8533147], and Zakian, 1995 [PubMed ID: 7671296]). The ATM locus was identified by positional cloning on chromosome 11q22-q23 by Savitsky et al. (1995) [PubMed ID: 7792600]. The ATM gene spans approximately 150 kb and consists of 66 exons. The initiation codon falls within exon 4 and the last exon is 3.8 kb and contains the stop codon (Uziel et al., 1996 [PubMed ID: 8660985] and Zhang et al., 1997) [PubMed ID: 9223307]). For the list of SNPs (as of 2002) on the ATM locus, please view the GeneSNPs site at http://www.genome.utah.edu/genesnps/genes/frame.cgi?gene=ATM.
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-PositionStatus# Populations
typed
rs189037rs189037   1080938331
rs228591rs228591   10809733351
rs623860rs623860   10810678250
rs12287161rs12287161   10810792450
rs694376rs694376   1081190481
rs2235000rs2235000   10812173350
rs228592rs228592   1081231891
rs672655rs672655   1081296571
rs11212570rs11212570   10813071250
rs3218673rs3218673   10813804550
rs664677rs664677   1081431821
rs1800057rs1800057   1081434561
rs11212579rs11212579   1081506641
rs624366rs624366   1081540971
rs609261rs609261   10815813450
rs1800058rs1800058   10816035051
rs1800889rs1800889   10816348751
rs600329rs600329   1081637331
rs645485rs645485   1081688631
rs619972rs619972   10816961950
rs3092829rs3092829   1081753941
rs1801516rs1801516   10817546251
rs17107917rs17107917   1081880391
rs609655rs609655   1082042531
rs227060rs227060   10820488151
rs227062rs227062   1082053831
rs227063rs227063   1082073041
rs227064rs227064   10820739350
rs664143rs664143   1082256611
rs652541rs652541   1082260251
rs170548rs170548   1082348361
14-site haplotype   5

References:
- Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL. "Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium". Am. J. Hum. Genet. 67:1437-1451. (2000) Online citation.

- Jackson SP. "Cancer predisposition. Ataxia-telangiectasia at the crossroads". Curr. Biol. 5:1210-2. (1995) Online citation.

- Lavin MF, Khanna KK, Beamish H, Spring K, Watters D, Shiloh Y. "Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase". Trends. Biochem. Sci. 20:382-3. (1995) Online citation.

- Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, et al. "A single ataxia telangiectasia gene with a product similar to PI-3 kinase". Science 268:1749-53. (1995) Online citation.

- Uziel T, Savitsky K, Platzer M, Ziv Y, Helbitz T, Nehls M, Boehm T, Rosenthal A, Shiloh Y, Rotman G. "Genomic Organization of the ATM gene". Genomics 33:317-20. (1996) Online citation.

- Zakian VA. "ATM-related genes: what do they tell us about functions of the human gene?". Cell 82:685-7. (1995) Online citation.

- Zhang N, Chen P, Khanna KK, Scott S, Gatei M, Kozlov S, Watters D, Spring K, Yen T, Lavin MF. "Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype". Proc. Natl. Acad. Sci. U. S. A. 94:8021-6. (1997) Online citation.

Top

© 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