DBASS5 - Record Details
| Gene |
FGB (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Afibrinogenemia (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+2103
|
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| Mutation | IVS1+2076A>G | Change in the Reading Frame |
0
|
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| Reference(s) |
Davis R.L., Homer V.M., George P.M., Brennan S.O. (2009) A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum. Mut., 30, 221-227. Pub Med Article # 18853456 |
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| Nucleotide Sequence[a] | gccttgagaa ttattttaaa tataagaaaa tcataatgtt tgataaagaa atcatgtaag aaatttcaag ataatggttt aacaaataat tttgttgata gaagataaga ctaaaagtga aattcgaagt ggagaggaca cttaaactgt agtacttgtt atgtgtgatt ccagtaaaaa tagtaatgag cacttattat tgccaagtac tgttctgagg gtaccatatg caataagtta tttaatcctt acaataatct tgtaaggcag attcaaacta tcattacact tattttacag /ATGAGAAAA CTGGGGCACA GAT(A>G)AA GCAACTTGCC CAAGGTCTCA TAGCT/gtaa gtcaacccta cggtcaagac ctacaagtag ccgagctcca gagtacatta tgagggtcaa agattgtctt attacaaata aattccaagt agaatcaacc tttaataagt ctttaatgtc tcttaaatat gtttatatag gagtctaatc accaattcac aaaaatgaaa gtagggaaat gattaacaat aatcatagga atctaacaat ccaagtggct tgagaatatt cattcttctt gacagtatag attctttaca atttcgtaag ttccaatgta tgttttagga | ||||
| Percent Utilisation | 100 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
N.D.
|
8.56
|
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| Maximum Dependence Decomposition Model [2] |
N.D.
|
12.68
|
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| First Order Markov Model [1] |
N.D.
|
6.46
|
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| Weight Matrix Model [1] |
N.D.
|
5.41
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr4:154565185/154565186 chr4:154565235/154565236 |
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| Mutation |
chr4:154565208 |
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| Comments | creates pseudoexon | ||||
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.