HsaEX6047864 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56494048-56496187:-
Coord C1 exon
chr6:56496009-56496187
Coord A exon
chr6:56495043-56495181
Coord C2 exon
chr6:56494048-56494241
Length
139 bp
Sequences
Splice sites
3' ss Seq
TGTTTAATTTCCTTTTTAAGGTT
3' ss Score
11.72
5' ss Seq
AAGGTATGA
5' ss Score
9.11
Exon sequences
Seq C1 exon
AAACTAAAGAAAGAGCTGGAACGACTTAAAGATGATTTGGGAACAATCACAAATAAGTGTGAGGAGTTTTTCAGTCAAGCAGCAGCCTCTTCATCAGTCCCTACCCTACGATCAGAGCTTAATGTGGTCCTTCAGAACATGAACCAAGTCTATTCTATGTCTTCCACTTACATAGATAA
Seq A exon
GTTGAAAACTGTTAACTTGGTGTTAAAAAACACTCAAGCTGCAGAAGCCCTCGTAAAACTCTATGAAACTAAACTGTGTGAAGAAGAAGCAGTTATAGCTGACAAGAATAATATTGAGAATCTAATAAGTACTTTAAAG
Seq C2 exon
CAATGGAGATCTGAAGTAGATGAAAAGAGACAGGTATTCCATGCCTTAGAGGATGAGTTGCAGAAAGCTAAAGCCATCAGTGATGAAATGTTTAAAACGTATAAAGAACGGGACCTTGATTTTGACTGGCACAAAGAAAAAGCAGATCAATTAGTTGAAAGGTGGCAAAATGTTCATGTGCAGATTGACAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'58-58,'58-57,60-58=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0348312=B3_4=PU(18.9=35.0)
A:
PF0348312=B3_4=FE(41.4=100)
C2:
PF0348312=B3_4=PD(37.8=64.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCAGTCAAGCAGCAGCCTC
R:
TGCCAGTCAAAATCAAGGTCCC
Band lengths:
242-381
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)