Special

HsaEX0021053 @ hg19

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56464867-56475360:-
Coord C1 exon
chr6:56475225-56475360
Coord A exon
chr6:56467680-56467829
Coord C2 exon
chr6:56464867-56465019
Length
150 bp
Sequences
Splice sites
3' ss Seq
TGCACAATTTTTTTTTCTAGTCT
3' ss Score
7.45
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
Exon sequences
Seq C1 exon
AATGACAGATGAAGAAAGAAATGAATTGGAAAAACAAGTGAAAACTCTTCAGGAAAGTTATAATTTATTATTCAGTGAATCTCTGAAACAGCTACAAGAATCACAAACCTCAGGAGATGTAAAGGTAGAGGAGAAG
Seq A exon
TCTAAACTAGCAGTTTCCCATGAAGAATTTCTGCATAAACTTAAGTCATTCTCAGATTGGGTATCAGAGAAGAGCAAATCTGTGAAGGATATTGAGATTGTGAATGTTCAAGATTCTGAGTATGTAAAGAAACGTTTGGAGTTTCTCAAG
Seq C2 exon
ATTGTAGCAGAGCGTCAGCAGGAGTATAAAGAGAAACTCCAAGGGATATGTGATCTTCTTACCCAAACTGAAAACCGCCTAATTGGTCACCAAGAAGCCTTCATGATTGGAGATGGCACAGTTGAGTTAAAGAAATATCAGTCCAAGCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_MULTIEX1-4/5=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.277 A=0.000 C2=0.065
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
ALTERNATIVE
(DST)
Chicken
(galGal4)
ALTERNATIVE
(DST)
Chicken
(galGal3)
ALTERNATIVE
(DST)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGATGAAGAAAGAAATGAATTGGA
R:
TGCCATCTCCAATCATGAAGGC
Band lengths:
250-400
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development