Special

HsaEX0049463 @ hg38

Exon Skipping

Gene
Description
periplakin [Source:HGNC Symbol;Acc:HGNC:9273]
Coordinates
chr16:4885094-4891949:-
Coord C1 exon
chr16:4891811-4891949
Coord A exon
chr16:4890728-4890921
Coord C2 exon
chr16:4885094-4885113
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
ACCCCAAGGCGGAAAGTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898_MULTIEX1-14/18=13-C2
Average complexity
C2*
Mappability confidence:
94%=94=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.468 A=0.169 C2=NA
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NA


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
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:
CAACCGCCTGGAGAAGAGC
R:
TTCACTTTCCGCCTTGGGGT
Band lengths:
147-341
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