Special

HsaEX0047805 @ hg19

Exon Skipping

Gene
Description
plakophilin 4 [Source:HGNC Symbol;Acc:9026]
Coordinates
chr2:159389692-159459616:+
Coord C1 exon
chr2:159389692-159389828
Coord A exon
chr2:159433783-159433895
Coord C2 exon
chr2:159459582-159459616
Length
113 bp
Sequences
Splice sites
3' ss Seq
TTTATTTTCTTGAATCACAGGAG
3' ss Score
6.22
5' ss Seq
CAGGTACAG
5' ss Score
8.68
Exon sequences
Seq C1 exon
GAGGAATGCCAGCTCCTGAGCAGGCCTCATTGGTGGAGGAGGGGCAACCACAGACCCGCCAGGAAGCTGCCTCCACTGGCCCAGGCATGGAACCCGAGACCACAGCCACCACTATTCTAGCATCCGTGAAGGAGCAG
Seq A exon
GAGCTTCAGTTTCAGCGACTCACCCGAGAACTGGAAGTGGAAAGGCAGATTGTTGCCAGTCAGCTAGAAAGATGTAGGCTTGGAGCAGAATCACCAAGCATCGCCAGCACCAG
Seq C2 exon
CTCAACTGAGAAGTCATTTCCTTGGAGATCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283_MULTIEX1-4/6=2-6
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.968 A=0.579 C2=0.939
Domain overlap (PFAM):

C1:
PF108283=DUF2570=PU(34.0=36.4),PF117563=YgbA_NO=PU(23.5=36.4)
A:
PF108283=DUF2570=PD(61.7=76.3),PF117563=YgbA_NO=FE(54.4=100)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGAATGCCAGCTCCTGAG
R:
TGTTGATCTCCAAGGAAATGACT
Band lengths:
171-284
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development