HsaEX6047867 @ hg19
Exon Skipping
Gene
ENSG00000151914 | DST
Description
dystonin [Source:HGNC Symbol;Acc:1090]
Coordinates
chr6:56489955-56492959:-
Coord C1 exon
chr6:56492797-56492959
Coord A exon
chr6:56492002-56492085
Coord C2 exon
chr6:56489955-56490062
Length
84 bp
Sequences
Splice sites
3' ss Seq
TAAACTGTGTATATTTATAGATG
3' ss Score
5.73
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GTTACGGGACTTAGAGGGCATTGGCAAATCACTGAAGTACTACAGAGACACTTACCATCCTTTAGATGATTGGATCCAGCAGGTTGAAACTACTCAGAGAAAGATTCAGGAAAATCAGCCTGAAAATAGTAAAACCCTAGCCACACAGTTGAATCAACAGAAG
Seq A exon
ATGCTGGTGTCCGAAATAGAAATGAAACAGAGCAAAATGGACGAGTGTCAAAAATATGCAGAACAGTACTCAGCTACAGTGAAG
Seq C2 exon
GACTATGAATTACAAACAATGACCTACCGGGCCATGGTAGATTCACAACAAAAATCTCCAGTGAAACGCCGAAGAATGCAGAGTTCAGCAGATCTCATTATTCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151914-'62-62,'62-61,63-62=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.381 A=0.000 C2=0.367
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=PU(4.5=85.7)
A:
PF083857=DHC_N1=FE(21.2=100)
C2:
PF083857=DHC_N1=FE(27.3=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:
AGGGCATTGGCAAATCACTGA
R:
GCCCGGTAGGTCATTGTTTGT
Band lengths:
181-265
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)