DBASS3 - Record Details
| Gene |
AR (Ensembl) |
Location of Aberrant 3' Splice Site | Intron |
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| Phenotype |
Complete androgen insensitivity syndrome (OMIM) |
Distance between Authentic and Aberrant 3' Splice Site (nt) |
-202
|
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| Mutation | c.2540-118A>G | Change in the Reading Frame |
+1
|
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| Reference(s) |
Kansakoski J, Jaaskelainen J, Jaaskelainen T, Tommiska J, Saarinen L, Lehtonen R, et al. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. Sci Rep. 2016 Sep 9;6:32819. Pub Med Article # 27609317 |
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| Nucleotide Sequence[a] | gaggcatttc ctcctggaaa gatttcctct tctgccaaca ggaggagatc tatgtaagca actcagatag gatttgtatg gcagccaagg aacttttctt taatatcttt tctaagagcc ctctcttagc ccctacggag ggagaagggc aaaatttgat attcaaagct atgtgttttg gttatctaaa tcagggtttt actgtgaatg acataaaagc ttaggtccta aaaaatgagt atctgagaag agtagaaaaa gaaaaggttc aggaaatttg atttacttga ctcctttcag /atcggatcc agctatcctt tcccctgaga tctccctgac agactgaagg ccccaagcac acagacttca actaacagga agcca(a>g) gtagatggtt ccctgtgggg gtgggggtca agtctgtggt cagaaaactt ggtgctttgt ctaatgctcc ttcgtgggca tgcttcccct ccccattctg tcttcatccc acatcagTTC CAGTGGATGG GCTGAAAAAT CAAAAATTCT TTGATGAACT TCGAATGAAC TACATCAAGG AACTCGATCG TATCATTGCA TGCAAAAGAA AAAATCCCAC ATCCTGCTCA AGACGCTTCT ACCAGCTCAC CAAGCTCCTG GACTCCGTGC | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model |
4.75
|
9.24
|
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| First Order Markov Model |
5.54
|
9.80
|
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| Weight Matrix Model |
7.41
|
10.02
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chrX:67722624/67722625 |
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| Mutation |
chrX:67722709 |
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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, 2). Maximum entropy and the first-order Markov and weight matrix models were computed as described (3).
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.
- Senapathy, P., Shapiro, M.B. and Harris, N.L. (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol., 183, 252-278.
- Yeo, G. and Burge, C.B. (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.