Special

HsaEX0021054 @ hg19

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56464867-56475360:-
Coord C1 exon
chr6:56475225-56475360
Coord A exon
chr6:56466241-56466474
Coord C2 exon
chr6:56464867-56465019
Length
234 bp
Sequences
Splice sites
3' ss Seq
TTGTACTACTTTTTTAACAGAAT
3' ss Score
7.67
5' ss Seq
AAGGTTTGC
5' ss Score
5.42
Exon sequences
Seq C1 exon
AATGACAGATGAAGAAAGAAATGAATTGGAAAAACAAGTGAAAACTCTTCAGGAAAGTTATAATTTATTATTCAGTGAATCTCTGAAACAGCTACAAGAATCACAAACCTCAGGAGATGTAAAGGTAGAGGAGAAG
Seq A exon
AATGTATTAAAAGACCTTGGACATACCAAAATGCAGCTGGAGACTACTGCCTTTGATGTGCAGTTCTTCATTTCTGAATATGCACAGGATCTGTCTCCCAACCAAAGCAAACAACTGCTGAGGCTCTTAAATACAACTCAGAAGTGTTTTCTTGATGTACAGGAGTCAGTAACTACCCAGGTGGAACGTTTAGAGACTCAGTTACATCTAGAACAAGATCTTGATGATCAGAAG
Seq C2 exon
ATTGTAGCAGAGCGTCAGCAGGAGTATAAAGAGAAACTCCAAGGGATATGTGATCTTCTTACCCAAACTGAAAACCGCCTAATTGGTCACCAAGAAGCCTTCATGATTGGAGATGGCACAGTTGAGTTAAAGAAATATCAGTCCAAGCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914_MULTIEX1-5/5=C1-C2
Average complexity
C2
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
Cow
(bosTau6)
ALTERNATIVE
(DST)
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
(DST)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGATGAAGAAAGAAATGAATTGGA
R:
CTCTTGCTTGGACTGATATTTCTT
Band lengths:
285-519
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