HsaEX0021043 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56324929-56328562:-
Coord C1 exon
chr6:56328363-56328562
Coord A exon
chr6:56327844-56327954
Coord C2 exon
chr6:56324929-56325052
Length
111 bp
Sequences
Splice sites
3' ss Seq
TTTGCCATTGTTCCATACAGATT
3' ss Score
8.05
5' ss Seq
GAGGTATTG
5' ss Score
7.44
Exon sequences
Seq C1 exon
CCAAAGGAAGGACAAACATGGAACTGCGTGAGAAGTTCATTTTAGCAGATGGTGCCAGCCAGGGTATGGCTGCTTTCCGACCCCGAGGCCGAAGATCCCGGCCATCATCACGAGGCGCTTCACCCAACAGATCCACTTCTGTGTCCAGTCAGGCTGCGCAGGCGGCCTCCCCACAGGTCCCTGCCACCACCACACCCAAG
Seq A exon
ATTCTCCATCCTTTAACACGCAATTATGGTAAACCATGGTTGACAAACAGCAAAATGTCAACTCCTTGTAAAGCAGCAGAGTGCTCAGACTTTCCCGTGCCATCTGCAGAG
Seq C2 exon
GGAACGCCAATACAAGGAAGCAAGCTTCGACTTCCAGGATATTTATCAGGGAAAGGCTTCCACTCTGGGGAGGACAGTGGCTTGATAACAACTGCAGCTGCCAGAGTCCGAACACAGTTTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.703 A=0.757 C2=1.000
Domain overlap (PFAM):
C1:
PF0218712=GAS2=PD(2.5=3.0)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTATGGCTGCTTTCCGACCC
R:
CTCTGGCAGCTGCAGTTGTTA
Band lengths:
243-354
Functional annotations
There are 0 annotated functions for this event
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)