DBASS5 - Record Details
| Gene |
ELN (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
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| Phenotype |
Supravalvular aortic stenosis (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-4
|
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| Mutation | E26+121G>A | Change in the Reading Frame |
+1
|
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| Reference(s) |
Urban, Z., Michels, V.V., Thibodeau, S.N., Donis-Keller, H., Csiszar, K. and Boyd, C.D. (1999) Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet, 104, 135-142. Pub Med Article # 10190324 |
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| Nucleotide Sequence[a] | GAGCTGCAGC TGGGCTTGGT GCTGGCATCC CTGGACTTGG AGTTGGTGTC GGCGTCCCTG GACTTGGAGT TGGTGCTGGT GTTCCTGGAC TTGGAGTTGG TGCTGGTGTT CCTGGCTTCC (G>A)G/GCA Ggtgcagatg agggagttag gcggagcctg tcccctgagc tcagggaagg agatccctcc tcctctcagc acctccccag caccccctca tcacccaggg gtgcatagta aaatccttgt taggttctcc taagcatctg ggggtaacag atagcgggag gagggcagac caggccaagg | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
4.95
|
2.53
|
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| Maximum Dependence Decomposition Model [2] |
10.08
|
5.82
|
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| First Order Markov Model [1] |
5.36
|
2.98
|
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| Weight Matrix Model [1] |
2.95
|
2.95
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr7:74060497/74060498 |
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| Mutation |
chr7:74060496 |
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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.