Special

MmuEX0028109 @ mm9

Exon Skipping

Gene
Description
muscleblind-like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444912]
Coordinates
chrX:48476994-48482248:-
Coord C1 exon
chrX:48482098-48482248
Coord A exon
chrX:48479303-48479338
Coord C2 exon
chrX:48476994-48477088
Length
36 bp
Sequences
Splice sites
3' ss Seq
CTTTTCTGCATGGCGTGCAGGGC
3' ss Score
6.02
5' ss Seq
TTGGTAGGT
5' ss Score
7.03
Exon sequences
Seq C1 exon
GCCCTGCCGCATGGTGCACTTCAACTGATACCAAAGAGGTCAGCCCTTGACAAGGCCAATGGTGCCACTCCAGTCTTTAACCCCAGTGTTTTCCACTGCCAACAGGCTCTGGCTAACATGCAGATTCCTCAGCAGGCTTTTATCCCAACAG
Seq A exon
GGCAAATACTGTGCATGACTCCTACTTCAACTTTTG
Seq C2 exon
TGCCCATGATGCACGGTGCTACACCTTCCACTGTGTCTACAGCAACACCACCTGCCAGCAACGTTCCCTACGTTCCAACAACTACAGGCAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000036109_MULTIEX1-4/6=3-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (disopred):
  C1=0.789 A=0.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGATTCCTCAGCAGGCTTT
R:
TGCCTGTAGTTGTTGGAACGT
Band lengths:
122-158
Functional annotations
There are 2 annotated functions for this event
PMID: 21454535
Inferred from MBNL1 ortholog: The exon 7 region enhances MBNL1-MBNL1 dimerization properties
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]


SPECIAL DATASETS

  • Pre-implantation embryo development
  • Neural differentiation time course
  • Muscular differentiation time course
  • Spermatogenesis cell types
  • Reprogramming of fibroblasts to iPSCs
  • Hematopoietic precursors and cell types