HsaEX0021035 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56566686-56569167:-
Coord C1 exon
chr6:56569078-56569167
Coord A exon
chr6:56568509-56568544
Coord C2 exon
chr6:56566686-56566763
Length
36 bp
Sequences
Splice sites
3' ss Seq
CTGTCTGTTATATTCATTAGCCA
3' ss Score
3.78
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
GTTCGAAAACATGTGAATGATCTCTATGAAGACTTAAGGGATGGACACAATTTGATTTCTCTTTTAGAGGTTCTTTCAGGAGATACCTTG
Seq A exon
CCAAGGGAGCGAGATTTTTTGAAGACCTTACGATTG
Seq C2 exon
CCCAGAGAAAAAGGTCGGATGCGTTTTCACAGACTACAGAATGTACAAATTGCACTTGACTATTTGAAAAGACGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'19-23,'19-22,20-23
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(28.7=100)
A:
PF0030726=CH=FE(9.7=100)
C2:
PF0030726=CH=FE(24.8=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCGAAAACATGTGAATGATCTCT
R:
TGTGAAAACGCATCCGACCTT
Band lengths:
121-157
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)