HsaEX0021051 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56600069-56610562:-
Coord C1 exon
chr6:56610427-56610562
Coord A exon
chr6:56603564-56603713
Coord C2 exon
chr6:56600069-56600221
Length
150 bp
Sequences
Splice sites
3' ss Seq
ATGTCCAACTTTGTTTTTAGTTT
3' ss Score
7.73
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
AATGACAGATGAAGAAAGAAATGAATTGGAAAAACAAGTGAAAACTCTTCAGGAAAGTTATAATTTATTATTCAGTGAATCTCTGAAACAGCTACAAGAATCACAAACCTCAGGAGATGTAAAGGTAGAGGAGAAG
Seq A exon
TTTTCCAGTGAATTACAGCAGTGTTTACAGCACACTGAAAAAATGCATGAGTATTTGACATTGCTTCAAGATATGAAACCCCCCTTAGACAACCAGGAATCTCTGGATAACAACTTGGAAGCTTTGAAGAATCAACTTAGACAGTTGGAG
Seq C2 exon
ATTGTAGCAGAGCGTCAGCAGGAGTATAAAGAGAAACTCCAAGGGATATGTGATCTTCTTACCCAAACTGAAAACCGCCTAATTGGTCACCAAGAAGCCTTCATGATTGGAGATGGCACAGTTGAGTTAAAGAAATATCAGTCCAAGCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_MULTIEX3-2/7=C1-6
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.249 A=0.520 C2=0.052
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGATGAAGAAAGAAATGAATTGGA
R:
TGCCATCTCCAATCATGAAGGC
Band lengths:
250-400
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