Special

HsaEX6047838 @ hg38

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Coordinates
chr6:56900421-56954628:-
Coord C1 exon
chr6:56954407-56954628
Coord A exon
chr6:56953785-56953819
Coord C2 exon
chr6:56900421-56900621
Length
35 bp
Sequences
Splice sites
3' ss Seq
TTTATCTCTTTTCTCCCCAGATG
3' ss Score
13.11
5' ss Seq
GAGGTAATT
5' ss Score
8.88
Exon sequences
Seq C1 exon
CTCCAGCCCCGCCGTCGAGTCGCCCTCGCCTCGCCCGCACCATGATCGCCGCGGCTTTCCTCGTCTTGCTGAGACCCTACAGCATCCAATGTGCCCTCTTCCTCTTGTTGCTTCTGCTGGGCACCATCGCCACCATCGTCTTCTTCTGCTGCTGGCACCGCAAGCTCCAGAAAGGGAGGCATCCGATGAAATCGGTCTTCTCGGGTCGTTCAAGAAGCCGAG
Seq A exon
ATGCTGTTTTGAGATCGCACCACTTTCGTTCTGAG
Seq C2 exon
GGATTCAGAGCAAGCCCTCGGCATCTTAGAAGACGAGTTGCAGCGGCCGCAGCTGCCCGTCTGGAAGAAGTGAAGCCCGTGGTGGAAGTTCACCATCAGAGTGAGCAAGAAACTTCAGTGAGGAAACGAAGAATCAAGAAGAGCAGCCGAGTCCAGCCAGAATTTTATCACTCTGTTCAAGGTGCTTCAATCAGGAGGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_CASSETTE11
Average complexity
S*
Mappability confidence:
100%=50=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.090 A=0.000 C2=0.485
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
(DST)
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAATCGGTCTTCTCGGGTCG
R:
GGCTTCACTTCTTCCAGACGG
Band lengths:
112-147
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains