HsaEX6047865 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56627999-56630383:-
Coord C1 exon
chr6:56630245-56630383
Coord A exon
chr6:56629250-56629443
Coord C2 exon
chr6:56627999-56628161
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-'78-82,'78-79,79-82=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:
NO
A:
NO
C2:
NO
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