HsaEX0021046 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56335904-56338800:-
Coord C1 exon
chr6:56338671-56338800
Coord A exon
chr6:56336857-56337020
Coord C2 exon
chr6:56335904-56336066
Length
164 bp
Sequences
Splice sites
3' ss Seq
CCGAAGTTATACCTTCACAGGAA
3' ss Score
4.09
5' ss Seq
GAGGTTTGG
5' ss Score
3.53
Exon sequences
Seq C1 exon
ACCTTCATGGAGGAAATGACCAGAAAACAGCCTGATGTTGATAAAGTAACGAAGACCTATAAGAGGAGAGCTGCTGATCCTTCCTCATTACAATCCCATATTCCAGTCTTGGATAAGGGACGAGCAGGAA
Seq A exon
GAAAACGCTTTCCAGCATCAAGCTTGTATCCCTCTGGGTCACAGACACAAATTGAAACCAAAAATCCTAGGGTAAACTTACTGGTGAGCAAATGGCAGCAAGTCTGGCTCCTGGCGTTGGAAAGAAGGAGGAAACTCAATGATGCCTTGGACAGACTAGAGGAG
Seq C2 exon
CTGAGGGAATTTGCTAACTTTGATTTTGATATCTGGCGCAAAAAATACATGCGATGGATGAATCACAAGAAATCTCGAGTGATGGACTTCTTCAGGAGAATTGATAAAGACCAGGATGGGAAAATAACGCGGCAGGAATTTATTGATGGAATTCTTTCCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.268 A=0.169 C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(43.4=75.0)
A:
NO
C2:
PF134991=EF-hand_7=PU(56.0=76.4)
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:
TGACCAGAAAACAGCCTGATGT
R:
GCCGCGTTATTTTCCCATCCT
Band lengths:
247-411
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)