DreEX0045309 @ danRer10
Exon Skipping
Gene
ENSDARG00000018460 | mbnl2
Description
muscleblind-like splicing regulator 2 [Source:ZFIN;Acc:ZDB-GENE-030131-9582]
Coordinates
chr1:2042908-2053822:+
Coord C1 exon
chr1:2042908-2043162
Coord A exon
chr1:2053270-2053323
Coord C2 exon
chr1:2053666-2053822
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCGCTGCCTGCTATTAAAAGACT
3' ss Score
2.54
5' ss Seq
CTGGTACTA
5' ss Score
3.1
Exon sequences
Seq C1 exon
GTGTGCCGTGAGTTTCAGCGGGGTAACTGCGCGCGCGGCGAGACCGACTGCCGCTTCGCCCATCCTAGCGACAGCCCGATGATCGACACGAGCGACAACACGGTCACGGTGTGCATGGACTACATCAAGAGCCGCTGCTCACGCGAGAAGTGCAAGTATTTCCACCCTCCAGCGCACCTGCAGGCCAAGATCAAAGCAGCGCAGCATCAGGCCAACCAGACCGCCGTCGCAGCGCAGGCCGCCGCTGCAGCCATG
Seq A exon
ACTCAGTCGACTGCCAAAGCAATGAAGCGACCCCTCGAGGCATCTGTAGATCTG
Seq C2 exon
GCGTTTCCGCATGGAGTCCTGCAGCCCCTACCAAAGAGACCAGCACTAGAAAAGAGTAACGGGGCCAGCACGCTCTTCAACCCCAGTGTCTTGCACTACCAACAGGCTTTGGCCAGCGCACAGCTTCAGCAGCCCACCGCTGCGTTCTTTCCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000018460_MULTIEX1-5/5=4-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.210 A=1.000 C2=0.759
Domain overlap (PFAM):
C1:
PF149201=MTBP_C=FE(55.6=100),PF0064219=zf-CCCH=PD(81.5=25.9)
A:
PF149201=MTBP_C=FE(11.3=100)
C2:
PF149201=MTBP_C=PD(0.7=1.9)
Other Inclusion Isoforms:
Associated events
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGGCCAAGATCAAAGCAG
R:
GCTGGCCCCGTTACTCTTTTC
Band lengths:
146-200
Functional annotations
There are 2 annotated functions for this event
PMID: 21454535
Inferred from MBNL1: The exon 5 and 6 regions are both needed to control the nuclear localization of MBNL1
PMID: 27733504
The presence of alternative ex.54nt always significantly elevated MBNL1 and MBNL2 protein levels (_2.7 and _4.0-times, respectively). There were marginal changes of the GFP-MBNL level for constructs carrying ex.36nt (_1.3-times) and ex.95nt (_0.8-times). There were no significant differences between the activities of the analyzed proteins for the majority (67%) of AS events. However, these exons might have either a positive or negative effect on some specific AS events (Figure 5A and C). Interestingly, exOFF events predominated in AS events with a negative effect of ex.36nt (95%; P = 0.002) and a positive effect of ex.95nt (90%; P = 0.010). All together, these data indicate that the presence of sequences encoded by these alternative exons can significantly modulate MBNL splicing activity, but this regulation depends strongly on the targeted RNA.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]