HsaEX0021035 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56701888-56704369:-
Coord C1 exon
chr6:56704280-56704369
Coord A exon
chr6:56703711-56703746
Coord C2 exon
chr6:56701888-56701965
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_CASSETTE10
Average complexity
S*
Mappability confidence:
100%=50=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)
Main Inclusion Isoform:
ENST00000361203fB2201
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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