DBASS5 - Record Details
| Gene |
TP53 (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
||
| Phenotype |
acetyl-defective K120 (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-16
|
||
| Mutation | c.359A>G | Change in the Reading Frame |
+1
|
||
| Reference(s) |
Lee SY, Park JH, Jeong S, Kim BY, Kang YK, Xu Y, et al. K120R mutation inactivates p53 by creating an aberrant splice site leading to nonsense-mediated mRNA decay. Oncogene. 2019 Mar;38(10):1597-610. Pub Med Article # 30348990 |
||||
| Nucleotide Sequence[a] | gacctggtcc tctgactgct cttttcaccc atctacagTC CCCCTTGCCG TCCCAAGCAA TGGATGATTT GATGCTGTCC CCGGACGATA TTGAACAATG GTTCACTGAA GACCCAGGTC CAGATGAAGC TCCCAGAATG CCAGAGGCTG CTCCCCCCGT GGCCCCTGCA CCAGCAGCTC CTACACCGGC GGCCCCTGCA CCAGCCCCCT CCTGGCCCCT GTCATCTTCT GTCCCTTCCC AGAAAACCTA CCAGGGCAGC TACGGTTTCC GTCTGGGCTT CTTGCATTCT GGGACAGCCA (A>G)/GTCT GTGACTTGCA CGgtcagttg ccctgagggg ctggcttcca tgagacttca atgcctggcc gtatccccct gcatttcttt tgtttggaac tttgggattc ctcttcaccc tttggcttcc tgtcagtgtt tttttatagt ttacccactt aatgtgtgat ctctgactcc tgtcccaaag ttgaatattc cccccttgaa tttgggcttt tatccatccc atcacaccct cagcatctct cctggggatg cagaactttt ctttttcttc atccacgtgt attccttggc | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
|||
| Maximum Entropy Model [1] |
8.02
|
6.84
|
|||
| Maximum Dependence Decomposition Model [2] |
11.28
|
10.18
|
|||
| First Order Markov Model [1] |
7.96
|
6.13
|
|||
| Weight Matrix Model [1] |
5.84
|
5.61
|
|||
| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr17:7676009/7676010 |
||||
| Mutation |
chr17:7676010 |
||||
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.