HsaEX0021044 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56463565-56466195:-
Coord C1 exon
chr6:56466078-56466195
Coord A exon
chr6:56464685-56464756
Coord C2 exon
chr6:56463565-56463764
Length
72 bp
Sequences
Splice sites
3' ss Seq
TCCTGTGTCATTTTTTCTAGTTC
3' ss Score
9
5' ss Seq
TAGGTTGGC
5' ss Score
2.04
Exon sequences
Seq C1 exon
TTTGGAGACTCCCAGCAACTGCGACTGGTCCGGATCCTGCGGAGTACTGTGATGGTTCGTGTTGGAGGTGGATGGATGGCACTTGATGAGTTCTTAGTGAAAAATGATCCTTGCAGGG
Seq A exon
TTCATCATCATGGGAGTAAAATGTTACGTTCGGAATCAAACTCTTCAATTACTACTACTCAGCCTACTATAG
Seq C2 exon
CCAAAGGAAGGACAAACATGGAACTGCGTGAGAAGTTCATTTTAGCAGATGGTGCCAGCCAGGGTATGGCTGCTTTCCGACCCCGAGGCCGAAGATCCCGGCCATCATCACGAGGCGCTTCACCCAACAGATCCACTTCTGTGTCCAGTCAGGCTGCGCAGGCGGCCTCCCCACAGGTCCCTGCCACCACCACACCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_CASSETTE2
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=0.920 C2=0.701
Domain overlap (PFAM):
C1:
PF0218712=GAS2=FE(49.4=100)
A:
PF0218712=GAS2=PD(2.5=8.0)
C2:
PF0218712=GAS2=PD(2.5=3.0)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGTTGGAGGTGGATGGATG
R:
GTGATGATGGCCGGGATCTTC
Band lengths:
172-244
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