DBASS5 - Record Details
| Gene |
ADA (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Adenosine deaminase deficiency (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+4
|
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| Mutation | IVS10+1G>A | Change in the Reading Frame |
+1
|
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| Reference(s) |
Santisteban, I., Arredondo-Vega, F.X., Kelly, S., Mary, A., Fischer, A., Hummell, D.S., Lawton, A., Sorensen, R.U., Stiehm, E.R., Uribe, L., Weinberg, K., Hershfield, M.S. (1993) Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. J.Clin.Invest., 92, 2291-2302. Pub Med Article # 8227344 |
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| Nucleotide Sequence[a] | tgaacaagtc acctaagttc tgaatttatt tccccctctg cacaaggatc agatctttca gatctgtttg aggctgctgt gaggatcaaa ggcgggtgaa cgtcaatgtg ttctgactat ttatgtaaga gtaaaaggag gctgattctc tcctcctccc tcttctgcag GCTCAAAAAT GACCAGGCTA ACTACTCGCT CAACACAGAT GACCCGCTCA TCTTCAAGTC CACCCTGGAC ACTGATTACC AGATGACCAA ACGGGACATG GGCTTTACTG AAGAGGAGTT TAAAAGGCTG (g>a)tga/g tgggtgtgag ccatactggc cttgactcgg gtttgggagt atggtatcta caggtccagt ccggggcctg gaatctttgg agagagggag tgagtctgcc tcaacagtcc aagacaagcc caacctagac actttccaca gagaagacat ctttgtgttg acgtcctgac ctaggaccag gtttttgatc ctttgcttgg gttgagtgcc tttaaagaat ccagtgaaag ctgtcaaccc tctccccaga aaggtgtgtg cagcagctat gaagtcttgc acactctctt | ||||
| Percent Utilisation | 100 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
10.10
|
-0.56
|
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| Maximum Dependence Decomposition Model [2] |
14.48
|
5.08
|
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| First Order Markov Model [1] |
9.36
|
2.76
|
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| Weight Matrix Model [1] |
1.84
|
1.84
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr20:44621013/44621014 |
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| Mutation |
chr20:44621017 |
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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.