DreEX0045303 @ danRer10
Exon Skipping
Gene
ENSDARG00000052978 | mbnl1
Description
muscleblind-like splicing regulator 1 [Source:ZFIN;Acc:ZDB-GENE-060929-704]
Coordinates
chr2:47963380-47970194:+
Coord C1 exon
chr2:47963380-47963533
Coord A exon
chr2:47967190-47967225
Coord C2 exon
chr2:47970103-47970194
Length
36 bp
Sequences
Splice sites
3' ss Seq
TTGCAATGCATGATGGGCAGGCT
3' ss Score
0.74
5' ss Seq
TGGGTAGGT
5' ss Score
6.86
Exon sequences
Seq C1 exon
GGAATTCCTCACAGTGTCATGCCACCTTTACCAAAGCGACCCGCGCTTGAGAAAGCCAACGGTGCCACGAGCATGTTCAGCGCTGGCATGCTCCAGTACCAGCAGGCTTTGGCCAACATGCAGTTTCAGCAGCAGGCAGCCTTTATTCCTTCAG
Seq A exon
GCTCAATATTGTGCATGACCCCTGCAGCGAGCGTGG
Seq C2 exon
TTCCCATGATGCACGGCGCTTCCCCGGCCGCTGTGTCTGCAGCAACCACATCTGCCACAAGTGTTCCCTTCGCATCTGCATCAGCCAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSDARG00000052978_MULTIEX1-3/5=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.247 A=0.031 C2=0.316
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAACATGCAGTTTCAGCAGC
R:
GATGCAGATGCGAAGGGAACA
Band lengths:
124-160
Functional annotations
There are 5 annotated functions for this event
PMID: 17702765
C-terminal region, partly encoded by exon 7, mediates homotypic interactions which may stabilize int... [Show more]
PMID: 27733504
The presence of alternative ex.54nt always significantly elevated MBNL1 and MBNL2 protein levels (_2... [Show more]
PMID: 29955876
Inclusion/exclusion of the exon affects splicing activity with sequential binding motifs, as shown b... [Show more]
PMID: 30456384
Exon 7 is the most differentially included exon in cancer, both in cell lines and in patients' sampl... [Show more]
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]