HsaEX6040784 @ hg19
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind-like splicing regulator 2 [Source:HGNC Symbol;Acc:16746]
Coordinates
chr13:97874574-97986694:+
Coord C1 exon
chr13:97874574-97874785
Coord A exon
chr13:97927886-97928663
Coord C2 exon
chr13:97986530-97986694
Length
778 bp
Sequences
Splice sites
3' ss Seq
ATTTCATTTCTGTTTTGCAGGTT
3' ss Score
11.29
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
AGCAACAGAGTTTAGACTGTCTTTGCTTCATCATCTGAAGGTAAAATTTTCCAGATACGGCAGACGGCTTTCAGAGTACAATAAACAGGGAATGAGAACTATTTACATGGAAGTTTCTTTCTCATGATGCGGTGGAGAAGCCTCGGCCACTTGGTTCTGCCAGATGTTCCTGGGGTTACTGTAAATGGGAAGGACAGGCAGAGCTAAACAAG
Seq A exon
GTTTATCATTTAAAAGTGCCTGTGTGAAGTCACTTTTGCTGGAAAACTGCAGCTTGGGAGCTTTCTTTGTATTCACATCCCACTCTTCTGTCAAGTACACTTTACCCTGACCTTATGAGTGGATGAAGATACCTCAGTTGTCTGACTTTGCCAATTGCTTAATTTCAGAATTTAAAAAGGGGAAAGAAAAACATCCTGCTAAAATATGAACATCTGAGTGTCTTATTTTCCAACATCGTCAATAGCTGTGAGCGTCAGCATTAAATATTCTCCCAAGGAGTGCCATGATATTGAAGTCACTTTATTAATAACAGCTGTATCTGCAAAACAGTCAAGAGACTCGGACGTTGAAAGCCAGAGATGACACTGAGCATGCTTTTATTGCGGCCTACCATCTTTAAGTGGGACATATTGATTGATGAGTGATTGCCTGTCCATACACTCTCTCATCATCCTGTTCCTTGGATTGGACTTCACTAAGCAATTTATCACTCACCTTCAGACTTACATGTGGGAGTTTTCACAACAGTAGTTTTGGAATCATTAGAACTTGGATTGATTTCATCATTTAACAGAAACAAACAGCCCAAATTACTTTATCACCATGGCTTTGAACGTTGCCCCAGTCAGAGATACAAAATGGCTGACATTAGAAGTCTGCAGACAGTTTCAAAGAGGAACATGCTCACGCTCTGATGAAGAATGCAAATTTGCTCATCCCCCCAAAAGTTGTCAGGTTGAAAATGGAAGAGTAATTGCCTGCTTTGATTCCCTAAAG
Seq C2 exon
GGCCGTTGTTCGAGAGAGAACTGCAAGTATCTTCACCCTCCGACACACTTAAAAACTCAACTAGAAATTAATGGAAGGAACAATTTGATTCAGCAAAAAACTGCAGCAGCAATGCTTGCCCAGCAGATGCAATTTATGTTTCCAGGAACACCACTTCATCCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793-'1-7,'1-4,3-7=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (disopred):
C1=NA A=0.157 C2=0.658
Domain overlap (PFAM):
C1:
NA
A:
PF0064219=zf-CCCH=WD(100=43.1)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCAACAGAGTTTAGACTGTCTTTGC
R:
AAATTGCATCTGCTGGGCAAG
Band lengths:
346-1124
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)