DBASS5 - Record Details
| Gene |
MCCB (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
3-methylcrotonyl-CoA carboxylase deficiency (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+922
|
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| Mutation | E11+55G>A | Change in the Reading Frame |
+1
|
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| 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 |
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| 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 |
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| Maximum Entropy Model [1] |
N.D.
|
11.01
|
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| Maximum Dependence Decomposition Model [2] |
N.D.
|
15.48
|
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| First Order Markov Model [1] |
N.D.
|
10.10
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| Weight Matrix Model [1] |
N.D.
|
10.67
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr5:71636103/71636104 chr5:71636167/71636168 |
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| Mutation |
chr5:71641057 |
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| 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
- 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.