HsaEX6040781 @ hg19
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind-like splicing regulator 2 [Source:HGNC Symbol;Acc:16746]
Coordinates
chr13:97999058-98017425:+
Coord C1 exon
chr13:97999058-97999321
Coord A exon
chr13:98009736-98009889
Coord C2 exon
chr13:98017390-98017425
Length
154 bp
Sequences
Splice sites
3' ss Seq
ATCGAATTCTTCATTTCTAGGCC
3' ss Score
7.16
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GTATGCAGGGAGTTCCAGCGAGGAAACTGTGCCCGGGGAGAGACCGACTGCCGCTTTGCACACCCCGCAGACAGCACCATGATCGACACAAGTGACAACACCGTAACCGTTTGTATGGATTACATAAAGGGGCGTTGCATGAGGGAGAAATGCAAATATTTTCACCCTCCTGCACACTTGCAGGCCAAAATCAAAGCTGCGCAGCACCAAGCCAACCAAGCTGCGGTGGCCGCCCAGGCAGCCGCGGCCGCGGCCACAGTCATG
Seq A exon
GCCTTTCCCCCTGGTGCTCTTCATCCTTTACCAAAGAGACAAGCACTTGAAAAAAGCAATGGTACCAGCGCGGTCTTTAACCCCAGCGTCTTGCACTACCAGCAGGCTCTCACCAGCGCACAGTTGCAGCAACACGCCGCGTTCATTCCAACAG
Seq C2 exon
GGTCAGTTTTGTGCATGACACCCGCTACCAGTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793-'9-13,'9-12,11-13=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.300 A=0.567 C2=0.269
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PD(81.5=25.0)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GAGACCGACTGCCGCTTTG
R:
TACTGGTAGCGGGTGTCATGC
Band lengths:
258-412
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)