Special

HsaEX6047868 @ hg38

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56624530-56627287:-
Coord C1 exon
chr6:56627204-56627287
Coord A exon
chr6:56625157-56625264
Coord C2 exon
chr6:56624530-56624628
Length
108 bp
Sequences
Splice sites
3' ss Seq
TTATTGACTCCTTTATACAGGAC
3' ss Score
8.27
5' ss Seq
GAGGTAATA
5' ss Score
7.96
Exon sequences
Seq C1 exon
ATGCTGGTGTCCGAAATAGAAATGAAACAGAGCAAAATGGACGAGTGTCAAAAATATGCAGAACAGTACTCAGCTACAGTGAAG
Seq A exon
GACTATGAATTACAAACAATGACCTACCGGGCCATGGTAGATTCACAACAAAAATCTCCAGTGAAACGCCGAAGAATGCAGAGTTCAGCAGATCTCATTATTCAAGAG
Seq C2 exon
TTCATGGACCTAAGGACTCGATATACTGCCCTGGTCACTCTCATGACACAATATATTAAATTTGCTGGTGATTCATTGAAGAGGCTGGAAGAGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'81-87,'81-86,83-87=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.381 C2=0.100
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)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGGTGTCCGAAATAGAAA
R:
CCTCCTCTTCCAGCCTCTTCA
Band lengths:
180-288
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains