HsaEX6040782 @ hg19
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind-like splicing regulator 2 [Source:HGNC Symbol;Acc:16746]
Coordinates
chr13:97986530-97999321:+
Coord C1 exon
chr13:97986530-97986694
Coord A exon
chr13:97995270-97995470
Coord C2 exon
chr13:97999058-97999321
Length
201 bp
Sequences
Splice sites
3' ss Seq
GTGTTGTCTTCCTTTAACAGCCC
3' ss Score
10.73
5' ss Seq
GAGGTACTT
5' ss Score
7.82
Exon sequences
Seq C1 exon
GGCCGTTGTTCGAGAGAGAACTGCAAGTATCTTCACCCTCCGACACACTTAAAAACTCAACTAGAAATTAATGGAAGGAACAATTTGATTCAGCAAAAAACTGCAGCAGCAATGCTTGCCCAGCAGATGCAATTTATGTTTCCAGGAACACCACTTCATCCAGTG
Seq A exon
CCCACTTTCCCTGTAGGTCCCGCGATAGGGACAAATACGGCTATTAGCTTTGCTCCTTACCTAGCACCTGTAACCCCTGGAGTTGGGTTGGTCCCAACGGAAATTCTGCCCACCACGCCTGTTATTGTTCCCGGAAGTCCACCGGTCACTGTCCCGGGCTCAACTGCAACTCAGAAACTTCTCAGGACTGACAAACTGGAG
Seq C2 exon
GTATGCAGGGAGTTCCAGCGAGGAAACTGTGCCCGGGGAGAGACCGACTGCCGCTTTGCACACCCCGCAGACAGCACCATGATCGACACAAGTGACAACACCGTAACCGTTTGTATGGATTACATAAAGGGGCGTTGCATGAGGGAGAAATGCAAATATTTTCACCCTCCTGCACACTTGCAGGCCAAAATCAAAGCTGCGCAGCACCAAGCCAACCAAGCTGCGGTGGCCGCCCAGGCAGCCGCGGCCGCGGCCACAGTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793-'5-9,'5-8,6-9=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.658 A=0.791 C2=0.300
Domain overlap (PFAM):
C1:
NO
A:
PF0064219=zf-CCCH=PU(11.1=4.5)
C2:
PF0064219=zf-CCCH=PD(81.5=25.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAGTATCTTCACCCTCCGA
R:
ATTTCTCCCTCATGCAACGCC
Band lengths:
295-496
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)