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) |
+11
|
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| Mutation | IVS6+13C>T | Change in the Reading Frame |
+2
|
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| Reference(s) |
Spena, S., Duga, S., Asselta, R., Malcovati, M., Peyvandi, F., Tenchini, M.L. (2002) Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. Blood, 100, 4478-4484. Pub Med Article # 12393540 |
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| Nucleotide Sequence[a] | GATGGACAGT GATTCAGAAC CGTCAAGACG GTAGTGTTGA CTTTGGCAGG AAATGGGATC CATATAAACA GGGATTTGGA AATGTTGCAA CCAACACAGA TGGGAAGAAT TACTGTGGCC TACCAGgtaa cgaacag/g( c>t)atgcaa aataaaatca ttctatttga aatgggattt tttttaatta aaaaacattc attgttggaa gcctgtttta ggcagttaag aggagtttcc tgacaaaaat gtggaagcta aagataaggg aagaaaggca gtttttagtt tcccaaaatt ttatttttgg tgagatttta ttttgttttt | ||||
| Percent Utilisation | 90 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
10.52
|
9.37
|
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| Maximum Dependence Decomposition Model [2] |
13.68
|
12.48
|
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| First Order Markov Model [1] |
8.77
|
9.03
|
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| Weight Matrix Model [1] |
8.30
|
8.90
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr4:154569318/154569319 |
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| Mutation |
chr4:154569320 |
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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.