HsaEX0047807 @ hg38
Exon Skipping
Gene
ENSG00000144283 | PKP4
Description
plakophilin 4 [Source:HGNC Symbol;Acc:HGNC:9026]
Coordinates
chr2:158676739-158678654:+
Coord C1 exon
chr2:158676739-158676867
Coord A exon
chr2:158678199-158678280
Coord C2 exon
chr2:158678581-158678654
Length
82 bp
Sequences
Splice sites
3' ss Seq
TCTCTGACCCACTGCCGTAGCTC
3' ss Score
5.38
5' ss Seq
CATGTGAGC
5' ss Score
5.03
Exon sequences
Seq C1 exon
TCGGCAGCACCTCTTCCTCACCAGCACTGTTAGGAATCAGAGACCCTCGCTCTGAATACGATAGGACCCAGCCACCTATGCAGTATTACAATAGCCAAGGGGATGCCACACATAAAGGCCTGTACCCTG
Seq A exon
CTCAGAGCCCTGGAAAAGGAGTGTTCCTCAGCTCAGGATCCCGTGCTGCTGTCCAAAGCCAGCTGGAGAAACCCTCCCACAT
Seq C2 exon
GCTCCAGCAAACCTTCACCAATTTACATCAGTTCCTATTCCTCACCAGCAAGAGAACAAAATAGACGGCTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283_MULTIEX1-2/3=1-3
Average complexity
C1*
Mappability confidence:
75%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.818 A=0.679 C2=0.562
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000389759fB5256
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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:
TCCTCACCAGCACTGTTAGGA
R:
TGTTCTCTTGCTGGTGAGGAA
Band lengths:
173-255
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