HsaEX6047866 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56492002-56494241:-
Coord C1 exon
chr6:56494048-56494241
Coord A exon
chr6:56492797-56492959
Coord C2 exon
chr6:56492002-56492085
Length
163 bp
Sequences
Splice sites
3' ss Seq
TTCGGTTACTATTCTCTTAGGTT
3' ss Score
5.74
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
CAATGGAGATCTGAAGTAGATGAAAAGAGACAGGTATTCCATGCCTTAGAGGATGAGTTGCAGAAAGCTAAAGCCATCAGTGATGAAATGTTTAAAACGTATAAAGAACGGGACCTTGATTTTGACTGGCACAAAGAAAAAGCAGATCAATTAGTTGAAAGGTGGCAAAATGTTCATGTGCAGATTGACAACAG
Seq A exon
GTTACGGGACTTAGAGGGCATTGGCAAATCACTGAAGTACTACAGAGACACTTACCATCCTTTAGATGATTGGATCCAGCAGGTTGAAACTACTCAGAGAAAGATTCAGGAAAATCAGCCTGAAAATAGTAAAACCCTAGCCACACAGTTGAATCAACAGAAG
Seq C2 exon
ATGCTGGTGTCCGAAATAGAAATGAAACAGAGCAAAATGGACGAGTGTCAAAAATATGCAGAACAGTACTCAGCTACAGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'61-61,'61-59,62-61=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.381 C2=0.000
Domain overlap (PFAM):
C1:
PF0348312=B3_4=PD(37.8=64.6)
A:
NO
C2:
PF083857=DHC_N1=FE(21.2=100)
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:
ACAGGTATTCCATGCCTTAGAGGA
R:
TGTAGCTGAGTACTGTTCTGCA
Band lengths:
243-406
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)