DBASS5 - Record Details
| Gene |
CYP11B1 (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
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| Phenotype |
11beta-hydroxylase deficiency (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-46
|
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| Mutation | E4+204G>A | Change in the Reading Frame |
+1
|
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| Reference(s) |
Soardi F.C., Penachioni J.Y., Justo G.Z., Bachega T.A., In�cio M., Mendon�a B.B., de Castro M., de Mello M.P. (2009) NOVEL MUTATIONS IN CYP11B1 GENE LEADING TO 11{beta}-HYDROXYLASE DEFICIENCY IN BRAZILIAN PATIENTS. J Clin Endocrinol Metab., in press. Pub Med Article # 19567537 |
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| Nucleotide Sequence[a] | CCAGCAACTT GGCTCTTTTT GGAGAGCGGC TGGGCCTGGT TGGCCACAGC CCCAGTTCTG CCAGCCTGAA CTTCCTCCAT GCCCTGGAGG TCATGTTCAA ATCCACCGTC CAGCTCATGT TCATGCCCAG GAGCCTGTCT CGCTGGACCA GCCCCAAG/G TGTGGAAGGA GCACTTTGAG GCCTGGGACT GCATCTTCCA GTAC(G>A)g tgaggccagg gacccgggca gtgctatggg gaagggacac catgggggcc caatttctcc ctctccacca cccagtgggg aatggaggcc acagggaggg gtcggggatt cctcaccttc ctgccaggga gattggtgcg aggctggggc tgggctgggc tgatccggag aatttgggat gagagcaggg agacttgggt gtcggggcag tctgggcagg aggaggacac tgaaggatgt ctcccagcac caaagtctga gggctgcctc ccgctccccg | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
9.20
|
5.28
|
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| Maximum Dependence Decomposition Model [2] |
12.88
|
10.98
|
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| First Order Markov Model [1] |
9.24
|
5.03
|
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| Weight Matrix Model [1] |
7.45
|
7.45
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr8:142876727/142876728 |
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| Mutation |
chr8:142876682 |
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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.