Special

HsaEX6045705 @ hg19

Exon Skipping

Gene
Description
desmoplakin [Source:HGNC Symbol;Acc:3052]
Coordinates
chr6:7558349-7563013:+
Coord C1 exon
chr6:7558349-7558497
Coord A exon
chr6:7559459-7559633
Coord C2 exon
chr6:7562885-7563013
Length
175 bp
Sequences
Splice sites
3' ss Seq
AAAGGTTTTTTTCTTTGCAGGCT
3' ss Score
8.23
5' ss Seq
AGGGTAAGC
5' ss Score
9.04
Exon sequences
Seq C1 exon
GAATTGAAGTATGGAGATGGAATACAACTGACTCGGAGTCGAGAATTGGATGAGTGTTTTGCCCAGGCCAATGACCAAATGGAAATCCTCGACAGCTTGATCAGAGAGATGCGGCAGATGGGCCAGCCCTGTGATGCTTACCAGAAAAG
Seq A exon
GCTTCTTCAGCTCCAAGAGCAAATGCGAGCCCTTTATAAAGCCATCAGTGTCCCTCGAGTCCGCAGGGCCAGCTCCAAGGGTGGTGGAGGCTACACTTGTCAGAGTGGCTCTGGCTGGGATGAGTTCACCAAACATGTCACCAGTGAATGTTTGGGGTGGATGAGGCAGCAAAGG
Seq C2 exon
GCGGAGATGGACATGGTGGCCTGGGGTGTGGACCTGGCCTCAGTGGAGCAGCACATTAACAGCCACCGGGGCATCCACAACTCCATCGGCGACTATCGCTGGCAGCTGGACAAAATCAAAGCCGACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096696-'2-4,'2-2,3-4=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=0.017 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0043516=Spectrin=PU(20.4=32.2)
C2:
PF0043516=Spectrin=FE(45.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(DSP)
Chicken
(galGal3)
HIGH PSI
(DSP)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGAGTCGAGAATTGGATGAGTG
R:
GTCGGCTTTGATTTTGTCCAGC
Band lengths:
242-417
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains