DBASS5 - Record Details
| Gene |
NDUFS7 (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Leigh syndrome (OMIM 1, OMIM 2) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+2697
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| Mutation | E1+2702C>G | Change in the Reading Frame |
0
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| Reference(s) |
Lebon, S., Minai, L., Chretien, D., Corcos, J., Serre, V., Kadhom, N., Steffann, J., Pauchard, J.Y., Munnich, A., Bonnefont, J.P., R�tig, A. (2007) Mol. Genet. Metab., in press Pub Med Article # 17604671 |
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| Nucleotide Sequence[a] | ctccatcggg cctcacctca cccacagcga caaagtacca tcacctgggc agcttcaaca gaagctgatt gttctcacag ttctgggggc tggaaggcca agattggggg tcagcagggt tggttcctgc tgaggcctct gtccttggct tgcccgtggc catcttctcc ctgcgtcttt cctctgtaca tgtttgtgtc ctgatcgcct tttcttacaa ggacataagt catatcggat gagggcccac cctcgtgacc tcactgtcct ttataatgac cctttatttt attttttgag /ATGGAGTCT CCCTCTGTCA CCCAAGCTGG AGTGCAGTGG CGCAGCCTCT GCTCACTGCA ACCTCTACCT CCCGGGTTCA AGTGATTCTC CTGCCTCAGC CTCTCGAGTA GCTGGGATTA CAG/gtac(c >g)tgctact acacccagct aatttttgta tttttagtag agacggggtt tcaccatgtt gcccaggctg gtctcgaact cctgacctca ggtgatccac ctgcctcggc ctcctgaagt gctggaatta caggcatgag ccaccacgcc caggcattaa tgatcccttt aaagacccca tctccaaaag cagtcacatt ctgaggtcct ggggttaggg cttcagatgc aggtcgggtg gagggtcaca gttcagccgt caccagcacc aagcctgcct ttctggattc ttccttgtga | ||||
| Percent Utilisation | 100 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
N.D.
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N.D.
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| Maximum Dependence Decomposition Model [2] |
N.D.
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N.D.
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| First Order Markov Model [1] |
N.D.
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N.D.
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| Weight Matrix Model [1] |
N.D.
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N.D.
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr19:1386517/1386518 chr19:1386639/1386640 |
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| Mutation |
chr19:1386644 |
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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.