DBASS5 - Record Details
| Gene |
EP300 (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
||
| Phenotype |
Breast cancer cell line (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+28
|
||
| Mutation | IVS30+2T>A | Change in the Reading Frame |
+1
|
||
| Reference(s) |
Gayther, S.A., Batley, S.J., Linger, L., Bannister, A., Thorpe, K., Chin, S.F., Daigo, Y., Russell, P., Wilson, A., Sowter, H.M. et al. (2000) Mutations truncating the EP300 acetylase in human cancers. Nat Genet, 24, 300-303. Pub Med Article # 10700188 |
||||
| Nucleotide Sequence[a] | GATCCTGATC CTCTCATCCC CTGCGATCTG ATGGATGGTC GGGATGCGTT TCTCACGCTG GCAAGGGACA AGCACCTGGA GTTCTCTTCA CTCCGAAGAG CCCAGTGGTC CACCATGTGC ATGCTGGTGG AGCTGCACAC GCAGAGCCAG GACCGCTTTG TCTACACCTG CAATGAATGC AAGCACCATG TGGAGACACG CTGGCACTGT ACTGTCTGTG AGg(t>a)ag gcaccgggtt gtgggaagga ggag/gtgag ctccgcaggg ttgttctgag gggccatgca gccacgtatt ttatagaggc ctgtgggatg ctaggggctt ggcctcgtgt ttgaggggca gagctgaaga ggctagtttt tgttctacga aaggggcttt tctagcccaa acaatatcta aaatactttt gaatgactta aatcttggag agtttacgtg cacctcctgt tttttcccta gGATTATGAC TTGTGTATCA CCTGCTATAA CACTAAAAAC CATGACCACA AAATGGAGAA ACTAGGCCTT GGCTTAGATG | ||||
| Terminal Exon? | Yes | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
|||
| Maximum Entropy Model [1] |
8.99
|
8.70
|
|||
| Maximum Dependence Decomposition Model [2] |
11.98
|
12.28
|
|||
| First Order Markov Model [1] |
8.19
|
9.33
|
|||
| Weight Matrix Model [1] |
9.26
|
9.26
|
|||
| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr22:41176556/41176557 |
||||
| Mutation |
chr22:41176530 |
||||
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.