HsaEX6047869 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56479154-56490062:-
Coord C1 exon
chr6:56489955-56490062
Coord A exon
chr6:56489328-56489426
Coord C2 exon
chr6:56479154-56479282
Length
99 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTTCCTTACTTGCAGTTC
3' ss Score
10.16
5' ss Seq
GAGGTAATC
5' ss Score
7.05
Exon sequences
Seq C1 exon
GACTATGAATTACAAACAATGACCTACCGGGCCATGGTAGATTCACAACAAAAATCTCCAGTGAAACGCCGAAGAATGCAGAGTTCAGCAGATCTCATTATTCAAGAG
Seq A exon
TTCATGGACCTAAGGACTCGATATACTGCCCTGGTCACTCTCATGACACAATATATTAAATTTGCTGGTGATTCATTGAAGAGGCTGGAAGAGGAGGAG
Seq C2 exon
AAGTCACTGGAAGAAGAAAAGAAAGAACATGTTGAAAAAGCCAAAGAATTGCAAAAATGGGTATCAAATATCAGCAAGACATTGAAAGATGCAGAGAAGGCTGGAAAACCTCCCTTCTCTAAGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'64-67,'64-63,65-67=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.367 A=0.095 C2=0.537
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=FE(27.3=100)
A:
PF083857=DHC_N1=FE(25.0=100)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATCTCCAGTGAAACGCCGA
R:
GGTTTTCCAGCCTTCTCTGCA
Band lengths:
167-266
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)