HsaEX6047838 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56765219-56819413:-
Coord C1 exon
chr6:56819205-56819413
Coord A exon
chr6:56818583-56818617
Coord C2 exon
chr6:56765219-56765419
Length
35 bp
Sequences
Splice sites
3' ss Seq
TTTATCTCTTTTCTCCCCAGATG
3' ss Score
13.11
5' ss Seq
GAGGTAATT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GTCGAGTCGCCCTCGCCTCGCCCGCACCATGATCGCCGCGGCTTTCCTCGTCTTGCTGAGACCCTACAGCATCCAATGTGCCCTCTTCCTCTTGTTGCTTCTGCTGGGCACCATCGCCACCATCGTCTTCTTCTGCTGCTGGCACCGCAAGCTCCAGAAAGGGAGGCATCCGATGAAATCGGTCTTCTCGGGTCGTTCAAGAAGCCGAG
Seq A exon
ATGCTGTTTTGAGATCGCACCACTTTCGTTCTGAG
Seq C2 exon
GGATTCAGAGCAAGCCCTCGGCATCTTAGAAGACGAGTTGCAGCGGCCGCAGCTGCCCGTCTGGAAGAAGTGAAGCCCGTGGTGGAAGTTCACCATCAGAGTGAGCAAGAAACTTCAGTGAGGAAACGAAGAATCAAGAAGAGCAGCCGAGTCCAGCCAGAATTTTATCACTCTGTTCAAGGTGCTTCAATCAGGAGGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'1-3,'1-2,3-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.101 A=0.208 C2=0.567
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAATCGGTCTTCTCGGGTCG
R:
GGCTTCACTTCTTCCAGACGG
Band lengths:
112-147
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)