Special

HsaEX6047849 @ hg19

Exon Skipping

Gene
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56507208-56510980:-
Coord C1 exon
chr6:56510885-56510980
Coord A exon
chr6:56510664-56510791
Coord C2 exon
chr6:56507208-56507301
Length
128 bp
Sequences
Splice sites
3' ss Seq
AAGTTTTTTGTTTTCTCAAGATT
3' ss Score
5.31
5' ss Seq
AAGGTAGGC
5' ss Score
10.08
Exon sequences
Seq C1 exon
GCACTTTATAATCAGTATTTACAGTTTAAAGAAACAGAAATTCCACCAAAGGAGACAGAAAAATCAAAAATTAAACGTCTATATAAATTATTAGAG
Seq A exon
ATTTGGATAGAATTTGGACGCATCAAGCTCCTTCAAGGTTATCATCCAAATGACATAGAAAAAGAGTGGGGGAAACTCATTATTGCCATGCTAGAGAGAGAGAAGGCCCTTCGTCCAGAAGTAGAAAG
Seq C2 exon
GTTAGAAATGTTGCAACAGATTGCCAACAGAGTTCAGAGGGACAGTGTCATCTGTGAAGACAAACTGATTCTTGCTGGAAATGCTCTTCAGTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'32-38,'32-32,33-38=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

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

C1:
PF0043516=Spectrin=FE(28.7=100)
A:
PF0043516=Spectrin=PD(35.2=88.4)
C2:
NO


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)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGTTTAAAGAAACAGAAATTCCAC
R:
AGACTGAAGAGCATTTCCAGCA
Band lengths:
170-298
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains