DBASS5 - Record Details
| Gene |
ECHS1 (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
early childhood Leigh syndrome (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+11
|
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| Mutation | c.88+5G>A | Change in the Reading Frame |
+2
|
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| Reference(s) |
Al Mutairi F, Shamseldin HE, Alfadhel M, Rodenburg RJ, Alkuraya FS. A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. Clin Genet. 2017 Apr;91(4):629-33. Pub Med Article # 27905109 |
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| Nucleotide Sequence[a] | GGGCGAGGAG TCCAGAGAGC CATGGCCGCC CTGCGTGTCC TGCTGTCCTG CGTCCGCGGC CCGCTGAGGC CCCCGGTTCG CTGTCCCGCC TGGCGTCCCT TCGCCTCGGg tga(g>a)tg cgcg/gtgag agctggcggc ccgaatctcc tcctgactcc gacctgcacg cccagaccag atcccagacc gcacccccct cccacctgac cccgcatccc ccacctgacc ccaacccaca cccctcttcc gcctgacccc gcaccctcac ctgaccccta cccgcacccc actccgcctg accccgcacc cccccgcctg accccgcacc cccccacctg accccgcacc ctccggcctg acccctaccc gcaccccact ccgcctgacc ccgcaccccc ccacctgacc ccgcaccccc | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
9.89
|
7.40
|
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| Maximum Dependence Decomposition Model [2] |
13.98
|
12.08
|
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| First Order Markov Model [1] |
10.12
|
8.77
|
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| Weight Matrix Model [1] |
9.42
|
6.80
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr10:133373234/133373235 |
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| Mutation |
chr10:133373241 |
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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.