HsaEX0021042 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56568469-56572266:-
Coord C1 exon
chr6:56572100-56572266
Coord A exon
chr6:56569856-56570012
Coord C2 exon
chr6:56568469-56568595
Length
157 bp
Sequences
Splice sites
3' ss Seq
GTATGATTTTTGTTATGTAGAAA
3' ss Score
5.32
5' ss Seq
AAGGTGAAT
5' ss Score
6.38
Exon sequences
Seq C1 exon
GAATCAACTTCTGAATTTTTAGAACACAAGAAACATCTTGAAGTTTTGCATAGTCTCTTGAAGGAGATATCCAGCCATGGCTTACCAAGTGATAAGGCTTTGGTCCTTGAAAAAACAAATAATTTGTCAAAGAAATTCAAGGAAATGGAGGATACCATCAAAGAAAA
Seq A exon
AAAAGAAGCTGTAACTTCTTGTCAAGAACAGTTGGATGCTTTCCAAGTTCTTGTTAAATCATTGAAGTCATGGATAAAAGAAACAACAAAAAAAGTTCCCATTGTACAGCCTTCTTTTGGTGCAGAGGATTTAGGAAAATCTTTGGAAGACACTAAG
Seq C2 exon
AAATTACAAGAAAAGTGGAGTTTAAAAACACCAGAGATTCAGAAAGTAAACAACAGTGGGATCTCACTATGTAACTTAATAAGTGCTGTGACCACCCCTGCAAAGGCAATAGCAGCAGTTAAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'127-134,'127-133,128-134
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.071 A=0.019 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGCATAGTCTCTTGAAGGAGA
R:
AACTGCTGCTATTGCCTTTGC
Band lengths:
243-400
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development