Special

DreEX0045311 @ danRer10

Exon Skipping

Gene
Description
muscleblind-like splicing regulator 2 [Source:ZFIN;Acc:ZDB-GENE-030131-9582]
Coordinates
chr1:2053666-2070067:+
Coord C1 exon
chr1:2053666-2053822
Coord A exon
chr1:2057873-2057967
Coord C2 exon
chr1:2066387-2070067
Length
95 bp
Sequences
Splice sites
3' ss Seq
TGGTTCCCTTCCTGAAAAAGTAC
3' ss Score
1.61
5' ss Seq
CAGGTTTGC
5' ss Score
4.86
Exon sequences
Seq C1 exon
GCGTTTCCGCATGGAGTCCTGCAGCCCCTACCAAAGAGACCAGCACTAGAAAAGAGTAACGGGGCCAGCACGCTCTTCAACCCCAGTGTCTTGCACTACCAACAGGCTTTGGCCAGCGCACAGCTTCAGCAGCCCACCGCTGCGTTCTTTCCCACAG
Seq A exon
TACCCATGATGTACAGTGCTACGCCTGCTACTGTCTCTGCAGCAACAACTCCTGCCACAAGTGTCCCCTACGCAACAACAGCACCAGCCAATCAG
Seq C2 exon
ATCATCTTGAAGTAAATCACCGAAGAGGAACGGGGTGTCAGGAAGCTGCTCTGAGAAACCCAAAAAGATCCCCGTGTAAATACGACCTGCCCTCCCCTTTAGAACTACAGCAACCTGCATGCTAAAGCGAAATACAATAGCAAGCCACTACAACACACACACTCACACACACATCTGTTATGCTCAGAAAAGTGATTTAACTGGTTACTTAAAAGATGTAAAAAAAAAAGAGACAAGAAATATATATATATATATATATATACATACATATGTATATATATGTATAGATGAACATGTTAATGTACAGCACGTTTCATAGAGGTATAAGTGAGCTTCATCTGAATGATCGGTCACCTGTCAGATAATGTGTATTTTTCTCCCATGTTTGAAATGAAATGCACAATGAGTGGGCGACAAAACACACACACATATATATATATATATATATATATATATATATATATACACACACACACACACACACTTGGTTTGCACTGTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000018460_MULTIEX2-2/2=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (disopred):
  C1=0.759 A=0.971 C2=1.000
Domain overlap (PFAM):

C1:
PF149201=MTBP_C=PD(0.7=1.9)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCAACCCCAGTGTCTTGCA
R:
GCAGGTCGTATTTACACGGGG
Band lengths:
173-268
Functional annotations
There are 1 annotated functions for this event
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]