HsaEX0038115 @ hg19
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind-like splicing regulator 1 [Source:HGNC Symbol;Acc:6923]
Coordinates
chr3:152165409-152174150:+
Coord C1 exon
chr3:152165409-152165562
Coord A exon
chr3:152173331-152173366
Coord C2 exon
chr3:152174056-152174150
Length
36 bp
Sequences
Splice sites
3' ss Seq
TTGCAATGCATGATGGGCAGGCT
3' ss Score
0.74
5' ss Seq
TTGGTAGGT
5' ss Score
7.03
Exon sequences
Seq C1 exon
GGAATTCCTCAAGCTGTACTTCCCCCATTACCAAAGAGGCCTGCTCTTGAAAAAACCAACGGTGCCACCGCAGTCTTTAACACTGGTATTTTCCAATACCAACAGGCTCTAGCCAACATGCAGTTACAACAGCATACAGCATTTCTCCCACCAG
Seq A exon
GCTCAATATTGTGCATGACACCCGCTACAAGTGTTG
Seq C2 exon
TTCCCATGGTGCACGGTGCTACGCCAGCCACTGTGTCCGCAGCAACAACATCTGCCACAAGTGTTCCCTTCGCTGCAACAGCCACAGCCAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601_MULTIEX2-3/5=2-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.394 A=0.297 C2=0.523
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAACATGCAGTTACAACAGC
R:
AGGGAACACTTGTGGCAGATG
Band lengths:
112-148
Functional annotations
There are 5 annotated functions for this event
PMID: 17702765
This event
C-terminal region, partly encoded by exon 7, mediates homotypic interactions which may stabilize int... [Show more]
PMID: 27733504
This event
The presence of alternative ex.54nt always significantly elevated MBNL1 and MBNL2 protein levels (_2... [Show more]
PMID: 29955876
This event
Inclusion/exclusion of the exon affects splicing activity with sequential binding motifs, as shown b... [Show more]
PMID: 30456384
This event
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]
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)