HsaEX6045706 @ hg19
Exon Skipping
Gene
ENSG00000096696 | DSP
Description
desmoplakin [Source:HGNC Symbol;Acc:3052]
Coordinates
chr6:7555951-7559633:+
Coord C1 exon
chr6:7555951-7556053
Coord A exon
chr6:7558349-7558497
Coord C2 exon
chr6:7559459-7559633
Length
149 bp
Sequences
Splice sites
3' ss Seq
ATGTGAGTGTTTTCTTTCAGGAA
3' ss Score
9.06
5' ss Seq
AAGGTATTG
5' ss Score
7.76
Exon sequences
Seq C1 exon
TCAAACCGGCACGATGTCCAGGCACCAGAACCAGAACACCATCCAGGAGCTGCTGCAGAACTGCTCCGACTGCTTGATGCGAGCAGAGCTCATCGTGCAGCCT
Seq A exon
GAATTGAAGTATGGAGATGGAATACAACTGACTCGGAGTCGAGAATTGGATGAGTGTTTTGCCCAGGCCAATGACCAAATGGAAATCCTCGACAGCTTGATCAGAGAGATGCGGCAGATGGGCCAGCCCTGTGATGCTTACCAGAAAAG
Seq C2 exon
GCTTCTTCAGCTCCAAGAGCAAATGCGAGCCCTTTATAAAGCCATCAGTGTCCCTCGAGTCCGCAGGGCCAGCTCCAAGGGTGGTGGAGGCTACACTTGTCAGAGTGGCTCTGGCTGGGATGAGTTCACCAAACATGTCACCAGTGAATGTTTGGGGTGGATGAGGCAGCAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096696-'1-2,'1-1,2-2=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=0.343 A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0043516=Spectrin=PU(20.4=32.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACCAGAACCAGAACACCAT
R:
GCCTCATCCACCCCAAACATT
Band lengths:
249-398
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)