Special

HsaEX0047800 @ hg19

Exon Skipping

Gene
Description
plakophilin 4 [Source:HGNC Symbol;Acc:9026]
Coordinates
chr2:159433783-159477633:+
Coord C1 exon
chr2:159433783-159433895
Coord A exon
chr2:159459582-159459616
Coord C2 exon
chr2:159477502-159477633
Length
35 bp
Sequences
Splice sites
3' ss Seq
TTTTCTTTCTTTTTCTTTAGCTC
3' ss Score
11.26
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GAGCTTCAGTTTCAGCGACTCACCCGAGAACTGGAAGTGGAAAGGCAGATTGTTGCCAGTCAGCTAGAAAGATGTAGGCTTGGAGCAGAATCACCAAGCATCGCCAGCACCAG
Seq A exon
CTCAACTGAGAAGTCATTTCCTTGGAGATCAACAG
Seq C2 exon
ACGTGCCAAATACTGGTGTAAGCAAACCTAGAGTTTCTGACGCTGTCCAGCCCAACAACTATCTCATCAGGACAGAGCCAGAACAAGGAACCCTCTATTCACCAGAACAGACATCTCTCCATGAAAGTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283-'7-14,'7-12,11-14
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.579 A=0.939 C2=1.000
Domain overlap (PFAM):

C1:
PF108283=DUF2570=PD(61.7=76.3),PF117563=YgbA_NO=FE(54.4=100)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAATCACCAAGCATCGCCAG
R:
AGGGTTCCTTGTTCTGGCTCT
Band lengths:
121-156
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