DBASS5 - Record Details
| Gene |
FGA (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Afibrinogenemia (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+4
|
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| Mutation | IVS4+1G>T | Change in the Reading Frame |
+1
|
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| Reference(s) |
Attanasio, C., de Moerloose, P., Antonarakis, S.E., Morris, M.A. and Neerman-Arbez, M. (2001) Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G->T. Blood, 97, 1879-1881. Pub Med Article # 11238133 |
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| Nucleotide Sequence[a] | tctttctttc tttctttctt tctttctcct tccttccttt cttcctttct tttttgctgg caattacaga caaatcactc agcagctact tcaataacca tattttcgat ttcagACCGT GATAATACCT ACAACCGAGT GTCAGAGGAT CTGAGAAGCA GAATTGAAGT CCTGAAGCGC AAAGTCATAG AAAAAGTACA GCATATCCAG CTTCTGCAGA AAAATGTTAG AGCTCAGTTG GTTGATATGA AACGACTGGA G(g>t)taa/ gtatgtggct gtggtcccag atgtccttgt ttctgagtag agggaaaagg aaggcgatag ttatgcactg agtgtctact atatgcagag aaaagtgtta tatccatcat ctacctaaaa gtaggtatta ttttcctcac tccacagttg aagaaaaaaa attcagagat attaagtaaa ttttccaacg gtacatagat agtaaatttc aaaagcaaat gttcagtccc tgtctaattc caaagcccat tacatcacca cacctctgag ccctcagcct gagtttcacc aaggatcatt | ||||
| Percent Utilisation | 85 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
11.08
|
4.58
|
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| Maximum Dependence Decomposition Model [2] |
14.68
|
8.38
|
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| First Order Markov Model [1] |
11.77
|
4.12
|
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| Weight Matrix Model [1] |
4.92
|
4.92
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr4:154587507/154587508 |
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| Mutation |
chr4:154587511 |
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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.