DBASS5 - Record Details
| Gene |
HGSNAT/TMEM76 (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Sanfilippo syndrome (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+89
|
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| Mutation | IVS9+5G>A | Change in the Reading Frame |
+2
|
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| Reference(s) |
Hreb�cek M., Mr�zov� L., Seyrantepe V., Durand S., Roslin N.M., Noskov� L., Hartmannov� H., Iv�nek R., C�zkova A., Poupetov� H., Sikora J., Urinovsk� J., Straneck� V., Zeman J., Lepage P., Roquis D., Verner A., Ausseil J., Beesley C.E., Maire I., Poorthuis B.J., van de Kamp J., van Diggelen O.P., Wevers R.A., Hudson T.J., Fujiwara T.M., Majewski J., Morgan K., Kmoch S., Pshezhetsky A.V. (2006) Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am. J. Hum. Genet., 79, 807-819. Pub Med Article # 17033958 |
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| Nucleotide Sequence[a] | acactagatt taggaggtat ttgtattcta gagtcctttt gcttatgctt tgtacttgtt ctgcagGGCT GACAGTGGCT GACCTCGTGT TCCCGTGgtg a(g>a)ttgc cggtctgccc tcttctcttc cacgggttga ctccaatctc ctgtttttca gatgatgctg gagcctctct tctgagacgg /gcatgtgtt atgtggttag gaagtccttc caaaagtcct gttactggat agttctcata cttgacccag tgcctacacg tgtgtataaa | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
8.95
|
1.03
|
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| Maximum Dependence Decomposition Model [2] |
12.88
|
4.12
|
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| First Order Markov Model [1] |
8.31
|
1.09
|
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| Weight Matrix Model [1] |
0.10
|
0.10
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr8:43173832/43173833 |
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| Mutation |
chr8:43173748 |
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| Comments | activates GC cryptic site | ||||
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.