HsaEX6047844 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56651132-56699745:-
Coord C1 exon
chr6:56699653-56699745
Coord A exon
chr6:56670641-56670807
Coord C2 exon
chr6:56651132-56651244
Length
167 bp
Sequences
Splice sites
3' ss Seq
ACACTTTCTGTTATATCTAGATA
3' ss Score
7.72
5' ss Seq
CAGGTATGG
5' ss Score
9.99
Exon sequences
Seq C1 exon
GTGAAATTAGTGAATATTAGAAATGATGACATAACAGATGGAAATCCCAAATTGACTTTGGGATTAATCTGGACAATAATTTTGCACTTTCAG
Seq A exon
ATATCTGATATCCATGTTACTGGAGAGTCAGAGGATATGTCTGCAAAAGAGAGATTGCTACTCTGGACGCAGCAGGCAACAGAGGGTTATGCTGGAATTCGGTGTGAAAATTTCACTACCTGCTGGAGAGATGGAAAATTATTTAATGCCATCATTCATAAATACAG
Seq C2 exon
GCCGGACCTGATAGATATGAATACTGTTGCTGTTCAAAGCAACCTTGCAAATTTAGAGCATGCTTTTTACGTAGCAGAAAAAATTGGTGTTATAAGACTTCTGGACCCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'26-40,'26-38,39-40
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.002 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(29.7=100)
A:
PF0030726=CH=PU(39.2=71.4)
C2:
PF0030726=CH=FE(37.3=100)
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:
AGAAATGATGACATAACAGATGGAAA
R:
TCAGGGTCCAGAAGTCTTATAACAC
Band lengths:
186-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains