DBASS5 - Record Details
| Gene |
TP53 (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Primary sarcoma (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+5
|
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| Mutation | c.672 G>A | Change in the Reading Frame |
+2
|
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| Reference(s) |
Austin F, Oyarbide U, Massey G, Grimes M, Corey SJ. Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas. Pediatr Blood Cancer. 2017 Nov;64(11). Pub Med Article # 28475293 |
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| Nucleotide Sequence[a] | GTCTGGCCCC TCCTCAGCAT CTTATCCGAG TGGAAGGAAA TTTGCGTGTG GAGTATTTGG ATGACAGAAA CACTTTTCGA CATAGTGTGG TGGTGCCCTA TGAGCCGCCT GA(G>C)gtc tg/gtttgca actggggtct ctgggaggag gggttaaggg tggttgtcag tggccctcca ggtgagcagt aggggggctt tctcctgctg cttatttgac ctccctataa ccccatgaga tgtgcaaagt aaatgggttt aactattgca cagttgaaaa aactgaagct tacagaggct aagggcctcc cctgcttggc tgggcgcagt ggctcatgcc tgtaatccca gcactttggg aggccaaggc aggcggatca cgaggttggg agatcgagac catcctggct aacggtgaaa | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
2.59
|
0.72
|
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| Maximum Dependence Decomposition Model [2] |
6.48
|
4.58
|
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| First Order Markov Model [1] |
3.46
|
2.60
|
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| Weight Matrix Model [1] |
3.47
|
1.92
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr17:7674853/7674854 |
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| Mutation |
chr17:7674859 |
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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). Maximum entropy and the first-order Markov and weight matrix models were computed as described (2)
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.
- Yeo, G. and Burge, C.B. (2004) Maximum entropy modelling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.
- Burge, C. 1998. Modeling dependencies in pre-mRNA splicing signals. In Computational methods in molecular biology (eds. S.L. Salzberg et al.), chapter 8, pp. 129–164. Elsevier Science, Philadelphia, PA.