HsaEX6047865 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56492797-56495181:-
Coord C1 exon
chr6:56495043-56495181
Coord A exon
chr6:56494048-56494241
Coord C2 exon
chr6:56492797-56492959
Length
194 bp
Sequences
Splice sites
3' ss Seq
TACCAATTAATGTATTTTAGCAA
3' ss Score
5.48
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
Exon sequences
Seq C1 exon
GTTGAAAACTGTTAACTTGGTGTTAAAAAACACTCAAGCTGCAGAAGCCCTCGTAAAACTCTATGAAACTAAACTGTGTGAAGAAGAAGCAGTTATAGCTGACAAGAATAATATTGAGAATCTAATAAGTACTTTAAAG
Seq A exon
CAATGGAGATCTGAAGTAGATGAAAAGAGACAGGTATTCCATGCCTTAGAGGATGAGTTGCAGAAAGCTAAAGCCATCAGTGATGAAATGTTTAAAACGTATAAAGAACGGGACCTTGATTTTGACTGGCACAAAGAAAAAGCAGATCAATTAGTTGAAAGGTGGCAAAATGTTCATGTGCAGATTGACAACAG
Seq C2 exon
GTTACGGGACTTAGAGGGCATTGGCAAATCACTGAAGTACTACAGAGACACTTACCATCCTTTAGATGATTGGATCCAGCAGGTTGAAACTACTCAGAGAAAGATTCAGGAAAATCAGCCTGAAAATAGTAAAACCCTAGCCACACAGTTGAATCAACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'60-59,'60-58,61-59=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=0.381
Domain overlap (PFAM):
C1:
PF0348312=B3_4=FE(41.4=100)
A:
PF0348312=B3_4=PD(37.8=64.6)
C2:
PF083857=DHC_N1=PU(4.5=85.7)
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:
TGCAGAAGCCCTCGTAAAACT
R:
TCAACTGTGTGGCTAGGGTTT
Band lengths:
252-446
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)