HsaEX0047808 @ hg38
Exon Skipping
Gene
ENSG00000144283 | PKP4
Description
plakophilin 4 [Source:HGNC Symbol;Acc:HGNC:9026]
Coordinates
chr2:158666413-158669915:+
Coord C1 exon
chr2:158666413-158666563
Coord A exon
chr2:158669151-158669302
Coord C2 exon
chr2:158669720-158669915
Length
152 bp
Sequences
Splice sites
3' ss Seq
ACTTGTGTCATCTTTTAAAGAAA
3' ss Score
6.69
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
TTTGCAGCATATATCCGGGCGGCCGTCCGAAAAGAAAAGGGGCTCCCCATCCTTGTGGAGCTTCTGAGAATGGATAACGATAGAGTTGTTTCTTCCGTGGCAACAGCCTTGAGGAATATGGCACTAGATGTTCGCAACAAGGAGCTCATAG
Seq A exon
AAACTAACATGTTGCCACCGTTGTCAGATGAGTTGCTGTACACCTCAGCTCTATACACAAAAATGTGTAACTGTACCCAGTTCATACATTAAGATCCAGAAAGATCTAACGAAAAGTATTGTTTGGCAGCCTGACTTGGTCCAGATTCAAAG
Seq C2 exon
GCAAATACGCCATGCGAGACCTGGTCAACCGGCTCCCCGGCGGCAATGGCCCCAGTGTCTTGTCTGATGAGACCATGGCAGCCATCTGCTGTGCTCTGCACGAGGTCACCAGCAAAAACATGGAGAACGCAAAAGCCCTGGCCGACTCAGGAGGCATAGAGAAGCTGGTGAACATAACCAAAGGCAGGGGCGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283_MULTIEX3-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.021
Domain overlap (PFAM):
C1:
PF0051418=Arm=WD(100=74.5)
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000389759fB5257
Other Inclusion 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:
CGTCCGAAAAGAAAAGGGGCT
R:
TGTTTTTGCTGGTGACCTCGT
Band lengths:
248-400
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