DBASS5 - Record Details
| Gene |
BTK (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
X-linked agammaglobulinemia (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+20
|
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| Mutation | IVS13+2delT | Change in the Reading Frame |
+2
|
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| Reference(s) |
Brooimans, R.A., van den Berg, A.J., Rijkers, G.T., Sanders, L.A., van Amstel, J.K., Tilanus, M.G., Grubben, M.J., Zegers, B.J. (1997) Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. J. Med. Genet., 34, 484-488. Pub Med Article # 9192269 |
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| Nucleotide Sequence[a] | GACTCATATC CAGGCTCAAA TATCCAGTGT CTCAACAAAA CAAGAATGCA CCTTCCACTG CAGGCCTGGG ATACGg(t)a actccttatt tctctggg/g tagggtggac tggccagttg caaaaactac ctttgctggc cttgccttag ggagtgtcct tgaggtacac tgttctgcag cagctgcctc aaggacgctc aagacagatc caagcaaaag ttattcactg attttcttcc tctagtggct | ||||
| Percent Utilisation | 100 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
7.53
|
3.94
|
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| Maximum Dependence Decomposition Model [2] |
8.48
|
7.68
|
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| First Order Markov Model [1] |
6.94
|
5.06
|
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| Weight Matrix Model [1] |
6.28
|
6.28
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chrX:101357487/101357488 |
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| Mutation |
chrX:101357506 |
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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.