HsaEX1012417 @ hg38
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56614356-56624628:-
Coord C1 exon
chr6:56624530-56624628
Coord A exon
chr6:56617241-56617418
Coord C2 exon
chr6:56614356-56614484
Length
178 bp
Sequences
Splice sites
3' ss Seq
TTTATAAATTCCTGTTACAGATA
3' ss Score
8.88
5' ss Seq
ATGGTGATC
5' ss Score
0.74
Exon sequences
Seq C1 exon
TTCATGGACCTAAGGACTCGATATACTGCCCTGGTCACTCTCATGACACAATATATTAAATTTGCTGGTGATTCATTGAAGAGGCTGGAAGAGGAGGAG
Seq A exon
ATAGCTAAGAACAAGCAGTATGATATGCATACAGAAGTCACAACATTAAAACAAGAAAAGAACCCAGTTCCCAGTGCTGAAGAATGGATGCTTGAAGGGTGCAGAGCATCTGGTGGACTCAAGAAAGGGGATTTCCTTAAGAAGGGCTTAGAACCAGAGACCTTCCAGAACTTTGATG
Seq C2 exon
AAGTCACTGGAAGAAGAAAAGAAAGAACATGTTGAAAAAGCCAAAGAATTGCAAAAATGGGTATCAAATATCAGCAAGACATTGAAAGATGCAGAGAAGGCTGGAAAACCTCCCTTCTCTAAGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_MULTIEX2-3/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.100 A=0.130 C2=0.535
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000361203fB14324
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCATGGACCTAAGGACTCGA
R:
TTTGCTTAGAGAAGGGAGGTTTTCC
Band lengths:
226-404
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains