Special

MmuEX0028104 @ mm10

Exon Skipping

Gene
Description
muscleblind-like 2 [Source:MGI Symbol;Acc:MGI:2145597]
Coordinates
chr14:120396451-120431697:+
Coord C1 exon
chr14:120396451-120396604
Coord A exon
chr14:120404638-120404732
Coord C2 exon
chr14:120428935-120431697
Length
95 bp
Sequences
Splice sites
3' ss Seq
CATGGTTCCCCTCCTGAAAGTAC
3' ss Score
3.97
5' ss Seq
CAGGTTTGC
5' ss Score
4.86
Exon sequences
Seq C1 exon
GCCTTCCCTCCGGGTGCTCTTCATCCCTTACCAAAGAGACAAGCACTTGAAAAAAGCAACGGGGCCAGCACGGTCTTCAACCCCAGCGTCTTGCACTACCAGCAGGCTCTGACCAGTGCGCAGCTGCAGCAGCACACGGCGTTCATCCCCACAG
Seq A exon
TACCCATGATGCACAGCGCTACGTCCGCCACTGTCTCTGCAGCAACAACTCCTGCAACAAGTGTCCCCTTCGCAGCAACAGCCACAGCCAATCAG
Seq C2 exon
ATAATTCTGAAATAATCAACAGAAATGGAATGGAATGCCAAGAATCTGCATTGAGAATAACTAAACATTGTTACTGTACATATTACCCCGTTTCCTCCTCAATAGAATTGCCACAAACTGCATGCTAAATTTAGTTCTTCTGGACAGACCACAACCCTAAGGCTAGTTCTGCTATGTCATATATGAGTATTAAATATGGTATGCTTAGTATACTCCAGCCTAAGATAGTTAACCACCTGAGACCAGCTGTGATGTTCGAAGACATACAGGATGAGGTTTTCTTTCACAGGGTTCTGAGCATAGTTTCTGTCCCAGGAATATTGTCTTATCTCCATAACTATAGCTGATGCAGAAAGTCCAGACAATATACTCATTTCGACTCAGAATATTTCAAATTTAGCAATAAACAGTTAGCTTTAGTTTTAAGTACCTATTCCAAGGGCAGGTTCGATTGTAACTCCAATCACAACCATTTCATTTCCTGACTGGATCGAAGGGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000022139_MULTIEX2-6/6=4-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (disopred):
  C1=0.188 A=1.000 C2=0.812
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACCAGCAGGCTCTGACCAG
R:
GCATGCAGTTTGTGGCAATTCT
Band lengths:
183-278
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]


SPECIAL DATASETS

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