HsaEX1028322 @ hg38
Exon Skipping
Gene
ENSG00000144283 | PKP4
Description
plakophilin 4 [Source:HGNC Symbol;Acc:HGNC:9026]
Coordinates
chr2:158634070-158642699:+
Coord C1 exon
chr2:158634070-158634289
Coord A exon
chr2:158640627-158640759
Coord C2 exon
chr2:158642486-158642699
Length
133 bp
Sequences
Splice sites
3' ss Seq
GCCATGTTTTTCTCATGTAGGGA
3' ss Score
9.05
5' ss Seq
GAGGTACAG
5' ss Score
6.62
Exon sequences
Seq C1 exon
TAGGTATTGGAAATCTACAAAGGACATCCAGCCAACGAAGTACCCTTACATACCAAAGAAATAATTATGCTCTGAACACAACAGCTACCTACGCGGAGCCCTACAGGCCTATACAATACCGAGTGCAAGAGTGCAATTATAACAGGCTTCAGCATGCAGTGCCGGCTGATGATGGCACCACAAGATCCCCATCAATAGACAGCATTCAGAAGGACCCCAG
Seq A exon
GGAGTTTGCCTGGCGTGATCCTGAGTTGCCTGAGGTCATTCACATGCTTCAGCACCAGTTCCCATCTGTTCAGGCAAATGCAGCGGCCTACCTGCAGCACCTGTGCTTTGGTGACAACAAAGTGAAGATGGAG
Seq C2 exon
GTGTGTAGGTTAGGGGGAATCAAGCATCTGGTTGACCTTCTGGACCACAGAGTTTTGGAAGTTCAGAAGAATGCTTGTGGTGCCCTTCGAAACCTCGTTTTTGGCAAGTCTACAGATGAAAATAAAATAGCAATGAAGAATGTTGGTGGGATACCTGCCTTGTTGCGACTGTTGAGAAAATCTATTGATGCAGAAGTAAGGGAGCTTGTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283_MULTIEX4-2/4=C1-3
Average complexity
S*
Mappability confidence:
100%=88=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.577 A=0.022 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0051418=Arm=PU(14.6=13.3)
C2:
PF0051418=Arm=PD(80.5=45.8),PF0051418=Arm=PU(81.0=47.2)
Main Skipping Isoform:
ENST00000389759fB22694
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCCAGCCAACGAAGTACCC
R:
TGTGGTCCAGAAGGTCAACCA
Band lengths:
245-378
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains