HsaEX0047804 @ hg38
Exon Skipping
Gene
ENSG00000144283 | PKP4
Description
plakophilin 4 [Source:HGNC Symbol;Acc:HGNC:9026]
Coordinates
chr2:158533180-158577383:+
Coord C1 exon
chr2:158533180-158533316
Coord A exon
chr2:158533438-158533534
Coord C2 exon
chr2:158577271-158577383
Length
97 bp
Sequences
Splice sites
3' ss Seq
TCACGTTTTCTAATTATAAGGTG
3' ss Score
5.44
5' ss Seq
CAAGTAAGG
5' ss Score
7.66
Exon sequences
Seq C1 exon
GAGGAATGCCAGCTCCTGAGCAGGCCTCATTGGTGGAGGAGGGGCAACCACAGACCCGCCAGGAAGCTGCCTCCACTGGCCCAGGCATGGAACCCGAGACCACAGCCACCACTATTCTAGCATCCGTGAAGGAGCAG
Seq A exon
GTGTTTACATCCCTGAGTACATTGGGATGACTGGCATGTAGAGCCGCTCCAGGTGCCAGTCAGAATCGGAACATGCAGGATACTTGTGCGTCTGCAA
Seq C2 exon
GAGCTTCAGTTTCAGCGACTCACCCGAGAACTGGAAGTGGAAAGGCAGATTGTTGCCAGTCAGCTAGAAAGATGTAGGCTTGGAGCAGAATCACCAAGCATCGCCAGCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283_MULTIEX2-3/9=2-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.982 A=0.444 C2=0.656
Domain overlap (PFAM):
C1:
PF117563=YgbA_NO=PU(23.5=36.4)
A:
NO
C2:
PF117563=YgbA_NO=FE(54.4=100)
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGAATGCCAGCTCCTGAG
R:
TTCCACTTCCAGTTCTCGGGT
Band lengths:
179-276
Functional annotations
There are 1 annotated functions for this event
PMID: 31911676
[CRISPR screen]. Conserved poison exon with pro-oncogenic impact when depleted: HeLa Enriched at 14 days (FC=1.258, FDR=0.000), PC9 No Change at 14 days (FC=1.248, FDR=0.033), Late Xenograft No change (FC=1.363, FDR=0.273).
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