DBASS5 - Record Details
| Gene |
IGHG2 (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
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| Phenotype |
Acute lymphoblastic leukemia (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-16
|
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| Mutation | IVS1+4A>G | Change in the Reading Frame |
+1
|
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| Reference(s) |
Zhao, Y., Pan-Hammarstrom, Q., Zhao, Z., Wen, S., Hammarstrom, L.(2005) Selective IgG2 deficiency due to a point mutation causing abnormal splicing of the Cgamma2 gene. Int. Immunol., 17, 95-101. Pub Med Article # 15569770 |
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| Nucleotide Sequence[a] | CCTCCACCAA GGGCCCATCG GTCTTCCCCC TGGCGCCCTG CTCCAGGAGC ACCTCCGAGA GCACAGCGGC CCTGGGCTGC CTGGTCAAGG ACTACTTCCC CGAACCGGTG ACGGTGTCGT GGAACTCAGG CGCTCTGACC AGCGGCGTGC ACACCTTCCC GGCTGTCCTA CAGTCCTCAG GACTCTACTC CCTCAGCAGC GTGGTGACCG TGCCCTCCAG CAACTTCGGC ACCCAGACCT ACACCTGCAA CGTAGATCAC AAGCCCAGCA ACACCAAG/G TGGACAAGAC AGTTGgtg(a >g)gaggcca gctcagggag ggagggtgtc tgctggaagc caggctcagc cctcctgcct ggacgcaccc cggctgtgca gccccagccc agggcagcaa ggcaggcccc atctgtctcc tcacccggag gcctctgccc gccccactca tgctcaggga gagggtcttc tggctttttc caccaggctc caggcaggca caggctgggt gcccctaccc caggcccttc acacacaggg gcaggtgctt ggctcagacc tgccaaaagc catatccggg aggaccctgc ccctgaccta | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
-3.49
|
2.93
|
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| Maximum Dependence Decomposition Model [2] |
-1.68
|
7.78
|
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| First Order Markov Model [1] |
-3.53
|
3.11
|
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| Weight Matrix Model [1] |
4.27
|
4.27
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr14:105644511/105644512 |
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| Mutation |
chr14:105644492 |
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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). 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.