DBASS

DBASS5 - Record Details

Gene MCCB
(Ensembl)
Location of Aberrant 5' Splice Site
Intron
Phenotype 3-methylcrotonyl-CoA carboxylase deficiency
(OMIM)
Distance between Authentic and Aberrant 5' Splice Site (nt)
+922
Mutation E11+55G>A Change in the Reading Frame
+1
Reference(s)

Stucki M., Suormala T., Fowler B., Valle D., Baumgartner M.R. (2009) Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. J Biol Chem., 284, 28953-28957. Pub Med Article # 19706617

Nucleotide Sequence[a] tttttaaatt   aggaaattat   cttaatatca   aattctgtac   tggaagtttt   aatatttcaa   attatatttt   ccccttgact   ataaaatatt   atatattagt   tgtgaaaaat   atagaaaata   cagaaaagaa   aaaaattaaa   ttgcatataa   ttccaccctc   tagagaaggt   ggctaatatt   tggatgtttt   aggttaatgt   gtatatacgc   acatttttat   gtagttgaga   tagtctatac   gtatattttt   ttgttttact   ttttctagtt   taaattataa   acattttccc   atgtctttag   /AAATTCTTC   ATGAAATATT   TTCTACGGCT   AGATCTTAAT   TCCTATAATA   GTACTTGGCA   ACATG/gtaa   gtagtcagta   actattttct   gaatgcattg   atggatataa   tgttctgttg   tatggattta   tttaggcaat   accccagcat   tgctagtggg   tcttaaatcc   tggattttat   tgagcttcaa   gtgatacttc   actttagcaa   acgtgactta   gttaattgta   aatttttaaa   tgaggttttt   agtttaactt   ttaattaatt   ataagcacag   gaaaaaatgg   tacttaaact   ctgacatact   tgaaaaatgt   gttgggccag   gcgcagtggt   tcatgcctgt   aatcccagca   ctttgggaag   tggaggcagg   cagatccctt   gagtctagga   gatcagctgg   ctaacatggt   gaaaccccat   ctctactaaa   catacaaaaa   ttagccgggc   gtggtagcac   atgcctgtaa   tcccagctac   tcgggaggcc   gaaacaagag   aatcgcttga   acctgggagc   agaggttgca   gtgaaccgag   attgcactac   tgcactccag   cctgggtgac   agagtgagac   tctgtctcaa   ataaataaat   aaataaataa   agataaaaat   aaacaaataa   ataaaagaga   aaaatgagtt   gttccaggta   gccaagttct   ctggttggct   gagaattcac   cctttttcgt   gtaaccactg   caaccactgc   ttcccaggtt   caagcgattc   tcctgcctca   gcctcccgag   tagctgggat   tacaggcacc   cgccaccata   cctggctaat   ttttgtattt   ttagtagagg   cggggtttca   ccatgttggt   ctggcttttc   tcgaactcct   gaccttaggt   gatccgccca   cctcagcctt   ccgaagtgct   gggattacag   atgtgagcca   ccacacctgg   ccaattaata   cattctttta   aaaaaaatgt   attaaagtta   tagcttttaa   gttcagctta   aagatacatt   attctatgta   taagtctagg   aaattttaac   atttcccccc   ttcttcctaa   gaaattttca   aatatgctga   gatgttcaaa   gaataataca   atgatcacct   gtatatgaac   ctcatagagt   caacaattgt   tagaacttgt   gtcatttgtg   tgtgaaatac   attttaaagc   acaggcacac   ctcagataca   ttgtgggttc   agttccagat   cactgcaata   aagttaatat   cacaataaag   tgagtcacat   gaactttttg   gttttccaga   gcatataaaa   gttatattta   tactatattg   tagtctgttc   agtgtgcagg   agcaccttgc   ctttaaaaag   tacatacatt   aatttaaaaa   taccttattg   cttttaaaaa   tgctaacaat   catctgaacc   ttcagtgaat   catcttttgc   tggtggaggg   tcttgccttg   atgctaatga   cagccaacta   atcagggtag   aggttgctga   aggttggggt   ggctgtggca   atttcttaaa   agaagacaac   aatgaagtct   gccacactga   ctgactcttg   cttttatgaa   atattctctg   tagtatgcaa   tactgtttgc   tagcatttga   tccagggtag   aactttgttt   tttttcagac   tgagtctcac   tctgtcaccc   aggctggagt   gcagtggcgc   gatctcagct   cactgcaagc   tcagcctcct   gggttcatgc   cattctcctg   cctcctgagt   agcagggact   acaggtgccc   gccactgcgc   ctggctaatt   ttttgtattt   ttagtagaga   cggggtttca   ccgtattagc   caggatagtc   ttgatctccg   gacttcatga   tctgcccgcc   tcggcctccc   aaagtgctgg   gattacaggc   atcacccacc   gcgcctggcc   cagggtagaa   ctttcaaaat   gagtcagtcc   tctcaaacct   gactactgct   ttattaacta   aatttatgta   atactctata   tccgtaattg   tcatttcaca   gtgtttgtag   catcttcacc   aggagtacat   tctatctcaa   gaaacttctt   tttttgctca   ttcataagaa   gcagctcctc   atctgttcaa   gtttgaacat   gaaattgcag   cagttcagtt   acatcttcag   actccacttc   taactctagt   tatctccacc   acatctgaag   tgacttcatc   cattgaaatc   ttgaacccct   caaagttacc   catgagggtt   ggaatcaact   tcttccagta   tctttaattt   aattaaatat   ccttaatgtt   gatattttga   cctcctcgca   tgaatcgtga   atattctcaa   tggcatctag   aatggtgaat   cctttccaaa   aggttttcga   tttactttgc   ccagatctgt   cagaggaatc   actatctatg   gcagctatag   cctgaggaaa   tgtatttctt   tttttttgag   acggagtctc   gctctgtcgc   ccaggctgga   atgcagtggc   gcaatcttgg   ctcactgcaa   cctctatctt   ccaggttcaa   gcaattctcc   tgcctcagcc   tcccaagtag   ctgggattac   aggtgcatgc   caccattccc   agctaatttt   tgtattttta   gtagagacag   ggttttacca   tattggtcag   gctggtcttg   aactcctgac   ctcaggtgat   ccacccgtct   tggcctccca   aagtgctgag   aatacaggtg   tgagccacca   cgcccggccc   aggaaatgta   tttcttaaat   aataagactt   aaaagtaaaa   atgactcctt   gctccgtggg   ctacagagtg   gatgttataa   cagcaggcat   gaaaagaaca   ctcatctctt   tgtgcatctc   tatcagagtc   ttgagtgacc   aggtatattg   ttagtgagca   gtaatatttt   gaaagaaatc   tttttttctg   agtagtaggt   ctcaacagtg   gccttaaaaa   ttcattaaac   catgccacaa   atacgtatgc   tgtcatccag   ggtttgctgt   tacatttata   gagcacaggc   agagtagatt   taggataatt   ctgcaactta   aagtcaccag   ctgcattagc   ctttaacgag   agagtaagcc   tgtcctcaga   cgacgtgcac   taacctctcc   ccagctatga   aagtcctagg   tggcatcttc   ttccaccaga   aggctgtttc   atctacactg   aaaatctgtt   gtttaatgta   gccaccttca   tcaatgatct   tagctagatc   ttctggataa   cttgctgtag   cttctataat   acatcagcac   ttgctgcctc   accttatact   tttgtggtac   aaatggcttt   ttttttttta   aacctcatga   accaatctct   gctagcttca   aatttttctt   ctgcgacttc   acctatccaa   gccttcaggg   aactgaagag   agttaagacc   ttgctctgga   ttaaagggaa   tgttgtgcct   ggcttgattt   tctatccaga   ctactcaaac   cttctccata   tcagcaacaa   ggctgttttt   gctttctcga   cattatggat   tttttgtgaa   gataagtgaa   tgtattttat   gtggcctggt   ggtgttaatt   gtaatgcaaa   tacaacatag   tttttcacta   aatggtccta   aattgctgtg   ccctttgagc   agccgtatct   ctgtgtggaa   gaatgatagt   tgttacgtgt   tgattgcttg   ttaaaggtac   aatttttaca   ggtatatagc   acccaaaaca   gataactgtt   acattcccat   tgtattattg   gattttttag   gaaaagaagt   aaaaaataat   tcagagtaaa   cttttacttg   atggtgagaa   agatgttggg   aagcattcac   tcagttttca   gcctttgcat   catacaaaac   aagattttga   ttgatgtggc   agacagaaaa   agcgaagtgc   aaactatgta   gaaaaatagt   atgtatcatc   taaaatagtt   tctgaaattg   aaaatatgct   tcctgtttag   aactccttac   agtagtcctg   atatataatg   ataagcccca   gggataaact   atttagtaat   ttccactcct   ttatacatat   gtggatgatc   cttcaagtat   accagattca   gaatcaatga   gtctttatta   agtgcttaat   aatagtgata   gctacacttt   aatgagagcc   tgacagtatg   ctttagttag   cactttattt   ttatttttta   cttttttatt   tttctttttt   ctaccctgtt   aactgatagt   gctgtttatc   cttttatttt   tttttctaat   ttattatttc   ttgctgaaag   gaatagttag   cactttttac   attttttttt   tttttttttt   ttaacagatg   aggaaactga   agcttaaaga   attttctagt   ttctcagtcg   gagagctggg   agtcagagct   ggcttttcat   gtcagcatga   tttttgtagg   ttcctacttc   cttacaagta   gatcatatct   tcacagctct   tctgttccat   cattccagaa   gtgagaactg   agactcagag   gggtgaagtg   acttactcca   gggcatacca   gtcatacttg   ataccttaga   ttggagcctg   tgtcttttga   ctctgagccc   tgtctctacc   cagctttctc   attgcatccc   tgaacctctg   ccggtacatt   cgaacagtcc   ttgaagctct   aagtctagca   accagccctt   ggagcctttc   ctgcttttct   tgcatgcagc   atggtgctgt   tgcttgtata   gtgaagtata   aaatcagaac   ccagaatgac   ttcagggcat   taaccaggca   tgtcaaatga   aattctagtg   agattttctg   tgtagtgtga   aattttgtga   aagtgacaac   ttcactgtga   attgttttcc   tataagtaac   tttaatacaa   aaattctttt   gcaatataat   ttctcaaggc   cattgttgtt   tttcctctta   gGTCATTGCT   AGAATCGTGG   ATGGAAGCAG   ATTCACTGAG   TTCAAAGCCT   TTTAT(G>A)   GAGACACATT  
Percent Utilisation 100
Terminal Exon? No
Splice Site Strength[b]
Authentic Site
Aberrant Site
  Maximum Entropy Model [1]
N.D.
11.01
  Maximum Dependence Decomposition Model [2]
N.D.
15.48
  First Order Markov Model [1]
N.D.
10.10
  Weight Matrix Model [1]
N.D.
10.67
Genomic Co-ordinates (hg38)
  Aberrant Splice Site

chr5:71636103/71636104

chr5:71636167/71636168

Mutation

chr5:71641057

Comments creates pseudoexon by inactivating ESE in upstream exon 11.

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.