HsaEX0038121 @ hg19
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind-like splicing regulator 2 [Source:HGNC Symbol;Acc:16746]
Coordinates
chr13:98009736-98046374:+
Coord C1 exon
chr13:98009736-98009889
Coord A exon
chr13:98018713-98018807
Coord C2 exon
chr13:98043576-98046374
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
GCCTTTCCCCCTGGTGCTCTTCATCCTTTACCAAAGAGACAAGCACTTGAAAAAAGCAATGGTACCAGCGCGGTCTTTAACCCCAGCGTCTTGCACTACCAGCAGGCTCTCACCAGCGCACAGTTGCAGCAACACGCCGCGTTCATTCCAACAG
Seq A exon
TACCCATGATGCACAGCGCTACGTCCGCCACTGTCTCTGCAGCAACAACTCCTGCAACAAGTGTCCCCTTCGCAGCAACAGCCACAGCCAATCAG
Seq C2 exon
ATAATTCTGAAATAATCAGCAGAAACGGAATGGAATGCCAAGAATCTGCATTGAGAATAACTAAACATTGTTACTGTACATACTATCCTGTTTCCTCCTCAATAGAATTGCCACAAACTGCATGCTAAATAAAGATGTAGTTCTTCTGGACAGACCACAACTCTAAGAAGCTAGTGCTGCTATCTCATATATGAGTATTAAATATGGTATGCTTAGTATATTCCAACCTAAGATAGTTAACTACCTGAGACCAGCTGTGATGTTTAAAGACATAAAGGATAAAGTTTACTTTTAAAGGGTTTCTAAACATAGTTTCTGTCCTAGGAATATTGTCTTATCTCCATAACTATAGCTGATGCAGAAAGTCCAGCCAGTTTACTCATTTCGATTCAGAATATTTCAAATTTAGCAATAAACAATTAGCATTAGTTAAAAAAGAAACATATTCCAAGGGCAGGTTCGATTCTAGCTCTAATTACTGTCATGTCATTTACCCACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793_MULTIEX2-2/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.567 A=0.266 C2=0.520
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACCAGCAGGCTCTCACCAG
R:
GCATGCAGTTTGTGGCAATTCT
Band lengths:
183-278
Functional annotations
There are 1 annotated functions for this event
PMID: 27733504
This event
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
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)