HsaEX0021045 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56330876-56334755:-
Coord C1 exon
chr6:56334681-56334755
Coord A exon
chr6:56333780-56333797
Coord C2 exon
chr6:56330876-56330993
Length
18 bp
Sequences
Splice sites
3' ss Seq
CCATTTTTCATTTTTATCAGTTC
3' ss Score
7.92
5' ss Seq
CAGGTATAA
5' ss Score
7.46
Exon sequences
Seq C1 exon
GTGACAAGGCAGGTAGCTAAGTGTAAATGTGCAAAGCGATTTCAAGTTGAGCAGATTGGTGATAATAAATACAGG
Seq A exon
TTCTTCCTGGGAAATCAG
Seq C2 exon
TTTGGAGACTCCCAGCAACTGCGACTGGTCCGGATCCTGCGGAGTACTGTGATGGTTCGTGTTGGAGGTGGATGGATGGCACTTGATGAGTTCTTAGTGAAAAATGATCCTTGCAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0218712=GAS2=PU(35.8=96.0)
A:
PF0218712=GAS2=FE(6.3=100)
C2:
PF0218712=GAS2=FE(49.4=100)
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAAAGCGATTTCAAGTTGAGCA
R:
CGAACCATCACAGTACTCCGC
Band lengths:
104-122
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)