HsaEX0047804 @ hg19
Exon Skipping
Gene
ENSG00000144283 | PK4P
Description
plakophilin 4 [Source:HGNC Symbol;Acc:9026]
Coordinates
chr2:159389692-159433895:+
Coord C1 exon
chr2:159389692-159389828
Coord A exon
chr2:159389950-159390046
Coord C2 exon
chr2:159433783-159433895
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_MULTIEX1-3/6=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=0.968 A=0.444 C2=0.579
Domain overlap (PFAM):
C1:
PF108283=DUF2570=PU(34.0=36.4),PF117563=YgbA_NO=PU(23.5=36.4)
A:
NO
C2:
PF108283=DUF2570=PD(61.7=76.3),PF117563=YgbA_NO=FE(54.4=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
This event
[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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)