DBASS

DBASS5 - Record Details

Gene CYP17A1
(Ensembl) 		Location of Aberrant 5' Splice Site
Intron
Phenotype 17alpha-hydroxylase deficiency
(OMIM) 		Distance between Authentic and Aberrant 5' Splice Site (nt)
+351
Mutation IVS+2T>C Change in the Reading Frame
0
Reference(s)

Hwang DY, Hung CC, Riepe FG, Auchus RJ, Kulle AE, Holterhus PM, et al. CYP17A1 intron mutation causing cryptic splicing in 17alpha-hydroxylase deficiency. PLoS One. 2011;6(9):e25492. Pub Med Article # 21966534

Nucleotide Sequence[a] CCATGTGGGA   GCTCGTGGCT   CTCTTGCTGC   TTACCCTAGC   TTATTTGTTT   TGGCCCAAGA   GAAGGTGCCC   TGGTGCCAAG   TACCCCAAGA   GCCTCCTGTC   CCTGCCCCTG   GTGGGCAGCC   TGCCATTCCT   CCCCAGACAC   GGCCATATGC   ATAACAACTT   CTTCAAGCTG   CAGAAAAAAT   ATGGCCCCAT   CTATTCGGTT   CGTATGGGCA   CCAAGACTAC   AGTGATTGTC   GGCCACCACC   AGCTGGCCAA   GGAGGTGCTT   ATTAAGAAGG   GCAAGGACTT   CTCTGGGCGG   CCTCAAATGg   (t>c)aagtg   gtgcccatct   cctccctgcc   cccttcacca   ccccctggga   ttgttcaggt   cttcagacca   tgcctagaat   ggggcttcca   gctccaacaa   cctgtaattc   ttcccaaagt   agactagtgg   gatgatgtga   agggagtgaa   ccttcagacc   cccacccagc   ctctaaatta   ggcaggaaga   attaaaggaa   tgtctcctct   accaggctgc   ccaggaggtg   ggatgggagg   accacagtgg   tctgaggggt   caaggaatcc   tcactccact   cctctctctg   agcctagact   tctctaatgg   actgagaagg   tgcatgtaca   gcacttagcc   tagcacccag   caca/gtaag   tgccccttat   acagccagga   ttcatgttac   ttttcatgga   aaatgggggc   agtgactact   gtcctccatg   aaagctgctg   gggagaatta   gcctagctat   tgcaggctgg   gattgctgct   ttcctggtgc   tatttccagc   tactcaggct   cacaggggca   gttttctaca   atgacatttc   agggttgctg   atgagcctcc   cactcagcag   ggcccccagc   ctctcagcat   tttttttttt   tttttttttt   tttgagacag   agtctctctc   tgtcgcccag   cctggagtgc  
Terminal Exon? No
Splice Site Strength[b]
Authentic Site
Aberrant Site
  Maximum Entropy Model [1]
11.01
9.49
  Maximum Dependence Decomposition Model [2]
15.48
13.78
  First Order Markov Model [1]
10.10
7.80
  Weight Matrix Model [1]
10.67
7.19
Genomic Co-ordinates (hg38)
  Aberrant Splice Site

chr10:102836713/102836714
Mutation

chr10:102837063

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

  1. 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.
  2. 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.
  3. 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.