Special

HsaEX0049463 @ hg19

Exon Skipping

Gene
Description
periplakin [Source:HGNC Symbol;Acc:9273]
Coordinates
chr16:4940185-4941950:-
Coord C1 exon
chr16:4941812-4941950
Coord A exon
chr16:4940729-4940922
Coord C2 exon
chr16:4940185-4940335
Length
194 bp
Sequences
Splice sites
3' ss Seq
CTCCTCCTCTGCCCCGCCAGGCC
3' ss Score
9.06
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GGTTGATGTGGCCAACCGCCTGGAGAAGAGCCTGCAGCAGAGCTGGGAGTTGCTGGCCACACACGAGAACCATCTGAATCAGGATGACACAGTGCCTGAGAGCAGCCGTGTCCTGGACAGCAAGGGGCAGGAGCTGGCG
Seq A exon
GCCATGGCCTGTGAGTTACAGGCCCAGAAGTCCCTCCTGGGTGAGGTGGAGCAGAACTTGCAGGCGGCCAAGCAGTGCTCGAGCACACTGGCCAGCCGCTTCCAGGAGCACTGTCCGGACCTGGAGCGCCAGGAGGCCGAGGTGCACAAGCTGGGCCAGCGTTTCAACAACCTGCGCCAGCAGGTGGAACGCAG
Seq C2 exon
GGCGCAGAGCCTACAGAGCGCCAAGGCAGCCTACGAGCACTTCCACCGCGGCCATGACCACGTGCTGCAGTTCCTAGTCAGCATCCCCAGTTACGAGCCCCAGGAGACAGACAGCCTCAGCCAGATGGAGACCAAGCTGAAGAACCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.468 A=0.138 C2=0.314
Domain overlap (PFAM):

C1:
NO
A:
PF0026115=Tropomyosin=PU(36.0=83.1)
C2:
PF0026115=Tropomyosin=FE(33.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(PPL)
Zebrafish
(danRer10)
HIGH PSI
(ppl)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGAGAAGAGCCTGCAGCA
R:
TTGGTCTCCATCTGGCTGAGG
Band lengths:
255-449
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development