DBASS3 - Record Details
| Gene |
ATM (Ensembl) |
Location of Aberrant 3' Splice Site | Exon |
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| Phenotype |
Ataxia telangiectasia (OMIM) |
Distance between Authentic and Aberrant 3' Splice Site (nt) |
+7
|
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| Mutation | IVS11-2A>G | Change in the Reading Frame |
+1
|
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| Reference(s) |
Eng et al. (2004) Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Hum. Mutat., 23, 67-76. Pub Med Article # 14695534 |
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| Nucleotide Sequence[a] | tctatatatt tccttttagt ttgttaatgt gatggaatag ttttcaaatt atcctttttt tttttttttt (a>g)gGCTA CAG/ATTGCA ACCCAATTAA TATCAAAGTA TCCTGCAAGT TTACCTAACT GTGAGCTGTC TCCATTACTG ATGATACTAT CTCAGCTTCT ACCCCAACAG CGACATGGGG AACGTACACC ATATGTGTTA CGATGCCTTA CGGAAGTTGC ATTGTGTCAA GACAAGAGGT CAAACCTAGA AAGCTCACAA AAGTCAGATT TATTAAAACT CTGGAATAAA ATTTGGTGTA TTACCTTTCG TGGTATAAGT TCTGAGCAAA TACAAGCTGA AAACTTTGGC TTACTTGGAG CCATAATTCA | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model |
12.11
|
1.91
|
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| First Order Markov Model |
14.26
|
3.19
|
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| Weight Matrix Model |
17.84
|
11.03
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr11:108250707/108250708 |
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| Mutation |
chr11:108250699 |
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Legend
- [a] /, cryptic or de novo splice sites; > nucleotide substitutions; (), deletions; [], duplications or insertions. Intronic sequences are in lower case (in blue), exons are in upper case (in green)
- [b] Shapiro and Senapathy matrix scores were calculated according to an algorithm published previously (1, 2). Maximum entropy and the first-order Markov and weight matrix models were computed as described (3).
References
- Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
- Senapathy, P., Shapiro, M.B. and Harris, N.L. (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol., 183, 252-278.
- Yeo, G. and Burge, C.B. (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.