Special

HsaEX6047863 @ hg38

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56630245-56632040:-
Coord C1 exon
chr6:56631883-56632040
Coord A exon
chr6:56631211-56631389
Coord C2 exon
chr6:56630245-56630383
Length
179 bp
Sequences
Splice sites
3' ss Seq
GTTTGTTCTCTGTTTTATAGAAA
3' ss Score
8.92
5' ss Seq
TAAGTATGT
5' ss Score
4.58
Exon sequences
Seq C1 exon
AGGAGCAAGAGGAATCAGTTTATAATCTCTACATCTCTGAAGTTCGAAACATTAGACTTCGGTTAGAGAACTGTGAAGATCGGCTGATTAGACAGATTCGAACTCCCCTGGAAAGAGATGATTTGCATGAAAGTGTGTTCAGAATCACAGAACAGGAG
Seq A exon
AAACTAAAGAAAGAGCTGGAACGACTTAAAGATGATTTGGGAACAATCACAAATAAGTGTGAGGAGTTTTTCAGTCAAGCAGCAGCCTCTTCATCAGTCCCTACCCTACGATCAGAGCTTAATGTGGTCCTTCAGAACATGAACCAAGTCTATTCTATGTCTTCCACTTACATAGATAA
Seq C2 exon
GTTGAAAACTGTTAACTTGGTGTTAAAAAACACTCAAGCTGCAGAAGCCCTCGTAAAACTCTATGAAACTAAACTGTGTGAAGAAGAAGCAGTTATAGCTGACAAGAATAATATTGAGAATCTAATAAGTACTTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'76-78,'76-77,77-78
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(DST)
Chicken
(galGal3)
HIGH PSI
(DST)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAGCAAGAGGAATCAGTTTAT
R:
ACTGCTTCTTCTTCACACAGT
Band lengths:
251-430
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains