HsaEX0038120 @ hg19
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind-like splicing regulator 2 [Source:HGNC Symbol;Acc:16746]
Coordinates
chr13:98009736-98018807:+
Coord C1 exon
chr13:98009736-98009889
Coord A exon
chr13:98017390-98017425
Coord C2 exon
chr13:98018713-98018807
Length
36 bp
Sequences
Splice sites
3' ss Seq
CCACCATTGCATGACATCAGGGT
3' ss Score
3.57
5' ss Seq
TTGGTAGGT
5' ss Score
7.03
Exon sequences
Seq C1 exon
GCCTTTCCCCCTGGTGCTCTTCATCCTTTACCAAAGAGACAAGCACTTGAAAAAAGCAATGGTACCAGCGCGGTCTTTAACCCCAGCGTCTTGCACTACCAGCAGGCTCTCACCAGCGCACAGTTGCAGCAACACGCCGCGTTCATTCCAACAG
Seq A exon
GGTCAGTTTTGTGCATGACACCCGCTACCAGTATTG
Seq C2 exon
TACCCATGATGCACAGCGCTACGTCCGCCACTGTCTCTGCAGCAACAACTCCTGCAACAAGTGTCCCCTTCGCAGCAACAGCCACAGCCAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793_MULTIEX2-1/2=C1-2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.567 A=0.269 C2=0.266
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTCTTGCACTACCAGCAGG
R:
TTGTTGCTGCAGAGACAGTGG
Band lengths:
116-152
Functional annotations
There are 1 annotated functions for this event
PMID: 21454535
This event
Inferred from MBNL1 ortholog: The exon 7 region enhances MBNL1-MBNL1 dimerization properties
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)