Special

HsaEX0049467 @ hg19

Exon Skipping

Gene
Description
periplakin [Source:HGNC Symbol;Acc:9273]
Coordinates
chr16:4947676-4949385:-
Coord C1 exon
chr16:4949224-4949385
Coord A exon
chr16:4949014-4949121
Coord C2 exon
chr16:4947676-4947771
Length
108 bp
Sequences
Splice sites
3' ss Seq
TCCACTGCCCCCCACTGCAGAAT
3' ss Score
9.34
5' ss Seq
GAGGTTCAT
5' ss Score
1.75
Exon sequences
Seq C1 exon
GCAGCATCACAGGCCCGGCAGCAGCACCTGAGTTCGCTGCAGGACTACATGCAGCGCTGCACCAATGAGCTGTACTGGCTGGACCAGCAGGCCAAGGGCCGCATGCAGTACGACTGGAGTGACCGCAACCTCGACTACCCCAGCCGCCGGCGCCAGTATGAG
Seq A exon
AATTTCATCAACCGGAACCTGGAGGCCAAAGAGGAGAGAATCAACAAACTGCACAGCGAGGGCGACCAGCTGCTGGCGGCCGAGCACCCCGGGAGGAACTCCATTGAG
Seq C2 exon
GCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898_MULTIEX1-4/4=3-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.037 A=0.500 C2=0.031
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=PU(41.3=79.6)
A:
PF0043516=Spectrin=FE(33.7=100),PF123293=TMF_DNA_bd=PU(91.7=91.7)
C2:
PF0043516=Spectrin=PD(22.1=71.9),PF123293=TMF_DNA_bd=PD(2.8=3.1),PF0043516=Spectrin=PU(5.1=12.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(PPL)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
(ppl)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCAGCAGCACCTGAGTTC
R:
AGTCCTCCATGTACTTGAGGTGG
Band lengths:
234-342
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