DBASS3 - Record Details
| Gene |
FLNA (Ensembl) |
Location of Aberrant 3' Splice Site | Intron |
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| Phenotype |
Septo-optic dysplasia (OMIM) |
Distance between Authentic and Aberrant 3' Splice Site (nt) |
-86, -83
|
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| Mutation | c.6355+4_6355+5delAG | Change in the Reading Frame |
+2
|
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| Reference(s) |
Fernandez-Marmiesse A, Perez-Poyato MS, Fontalba A, Marco de Lucas E, Martinez MT, Cabero Perez MJ, et al. Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report. BMC Med Genet. 2019 Jun 24;20(1):112. Pub Med Article # 31234783 |
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| Nucleotide Sequence[a] | TGGTCAGGGC CTTCACGAAG GCCACACCTT TGAGCCTGCA GAGTTTATCA TTGATACCCG CGATGCAGgt aggcagtggc tgcccaccag ctggggcggg agcactgtgc atagcaccga ggctcagggg tatccatccc ctagGCTATG GTGGGCTCAG CCTGTCCATT GAGGGCCCCA GCAAGGTGGA CATCAACACA GAGGACCTGG AGGACGGGAC GTGCAGGGTC ACCTACTGCC CCACAGAGCC AGGCAACTAC ATCATCAACA TCAAGTTTGC CGACCAGCAC GTGCCTGgtg (ag)tgcag/ cag/tgcctc ggcagccccc ctcactacac cagggcccac aggcagtatg tgactggagg ggcgtgggcc gtgctttctt cctgcagGCA GCCCCTTCTC TGTGAAGGTG ACAGGCGAGG GCCGGGTGAA AGAGAGCATC ACCCGCAGGC GTCGGGCTCC TTCAGTGGCC AACGTTGGTA GTCATTGTGA CCTCAGCCTG AAAATCCCTG | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model |
12.22
|
-6.20
|
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| First Order Markov Model |
11.52
|
-5.71
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| Weight Matrix Model |
12.67
|
-2.10
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chrX:154352758/154352759 chrX:154352761/154352762 |
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| Mutation |
chrX:154352766 |
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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, 2). Maximum entropy and the first-order Markov and weight matrix models were computed as described (3).
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.
- Senapathy, P., Shapiro, M.B. and Harris, N.L. (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol., 183, 252-278.
- Yeo, G. and Burge, C.B. (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.