DBASS5 - Record Details
| Gene |
HMBS (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
||
| Phenotype |
Acute intermittent porphyria (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-9
|
||
| Mutation | E10+114G>T | Change in the Reading Frame |
0
|
||
| Reference(s) |
Delfau, M. H., Picat, C., De Rooij, F., Voortman, G., Deybach, J. C., Nordmann, Y., and Grandchamp, B. (1991). Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease. Am J Hum Genet 49, 421-428. Pub Med Article # 1714233 |
||||
| Nucleotide Sequence[a] | cattaagctg agagctggaa gatgactgaa agtcagccag ctagagaggg aaagacagac tcaggcagag ggaaccgcac gaggccccag attgcccgac actgtggtcc ttagcaactc tccacagCGG GGAAACCTCA ACACCCGGCT TCGGAAGCTG GACGAGCAGC AGGAGTTCAG TGCCATCATC CTGGCAACAG CTGGCCTGCA GCGCATGGGC TGGCACAACC GG/GTGGGGC A(G>T)gtag ggcctgcccc tatcctctcc ccagctcatc tgcatctcct ttctgcctta cagtcatccc caatttagga tttttagact ttatgattgt gtgaaagcga tatacgttca gtagaaactg tacttagtac ccatacagcc attctgtttt ttactttcag tacagtattc | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
|||
| Maximum Entropy Model [1] |
9.46
|
3.69
|
|||
| Maximum Dependence Decomposition Model [2] |
13.08
|
7.88
|
|||
| First Order Markov Model [1] |
9.04
|
5.10
|
|||
| Weight Matrix Model [1] |
6.11
|
6.11
|
|||
| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr11:119091517/119091518 |
||||
| Mutation |
chr11:119091526 |
||||
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.