Special

HsaEX6047843 @ hg38

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56670641-56701965:-
Coord C1 exon
chr6:56701888-56701965
Coord A exon
chr6:56699653-56699745
Coord C2 exon
chr6:56670641-56670807
Length
93 bp
Sequences
Splice sites
3' ss Seq
CTTCTTCACATTCAAAACAGGTG
3' ss Score
8.64
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
CCCAGAGAAAAAGGTCGGATGCGTTTTCACAGACTACAGAATGTACAAATTGCACTTGACTATTTGAAAAGACGCCAG
Seq A exon
GTGAAATTAGTGAATATTAGAAATGATGACATAACAGATGGAAATCCCAAATTGACTTTGGGATTAATCTGGACAATAATTTTGCACTTTCAG
Seq C2 exon
ATATCTGATATCCATGTTACTGGAGAGTCAGAGGATATGTCTGCAAAAGAGAGATTGCTACTCTGGACGCAGCAGGCAACAGAGGGTTATGCTGGAATTCGGTGTGAAAATTTCACTACCTGCTGGAGAGATGGAAAATTATTTAATGCCATCATTCATAAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_CASSETTE9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.002
Domain overlap (PFAM):

C1:
PF0030726=CH=FE(24.8=100)
A:
PF0030726=CH=FE(29.7=100)
C2:
PF0030726=CH=PU(39.2=71.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(DST)
Chicken
(galGal3)
HIGH PSI
(DST)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGTCGGATGCGTTTTCACA
R:
ACACCGAATTCCAGCATAACCC
Band lengths:
173-266
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains