DBASS5 - Record Details
| Gene |
HMBS (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Acute intermittent porphyria (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+67
|
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| Mutation | IVS1+3G>T | Change in the Reading Frame |
+1
|
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| Reference(s) |
Mustajoki, S., Pihlaja, H., Ahola, H., Petersen, N.E., Mustajoki, P. and Kauppinen, R. (1998) Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria. Hum Genet, 102, 541-548. Pub Med Article # 9654202 |
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| Nucleotide Sequence[a] | CCGGAAGTGA CGCGAGGCTC TGCGGAGACC AGGAGTCAGA CTGTAGGACG ACCTCGGGTC CCACGTGTCC CCGGTACTCG CCGGCCGGAG CCCCCGGCTT CCCGGGGCCG GGGGACCTTA GCGGCACCCA CACACAGCCT ACTTTCCAAG CGGAGCCATG TCTGGTAACG GCAATGCGGC TGCAACGGCG gt(g>t)agt gctgagccgg tgaccagcac actttgggct tctggacgag ccgtgcagcg attggcccca g/gttgccat cctcagtcgt ctattggtca gaacggctat cttttttttt tttttttttt tttttttttt ggtccgagta gcttttaaag ggccagtagc tcggttgccc tccggaagga atggggaaat cagagagcgg tgatactggg ttaagagtgg aaggattgtt | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
10.49
|
-2.52
|
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| Maximum Dependence Decomposition Model [2] |
14.08
|
4.68
|
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| First Order Markov Model [1] |
10.40
|
2.34
|
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| Weight Matrix Model [1] |
0.69
|
0.69
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr11:119085133/119085134 |
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| Mutation |
chr11:119085069 |
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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.