HsaEX1028321 @ 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
chr2:158638755-158638868
Coord C2 exon
chr2:158642486-158642699
Length
114 bp
Sequences
Splice sites
3' ss Seq
ATATGTTAAATATTTTGTAGATA
3' ss Score
6.6
5' ss Seq
TGGGTAATC
5' ss Score
4.2
Exon sequences
Seq C1 exon
TAGGTATTGGAAATCTACAAAGGACATCCAGCCAACGAAGTACCCTTACATACCAAAGAAATAATTATGCTCTGAACACAACAGCTACCTACGCGGAGCCCTACAGGCCTATACAATACCGAGTGCAAGAGTGCAATTATAACAGGCTTCAGCATGCAGTGCCGGCTGATGATGGCACCACAAGATCCCCATCAATAGACAGCATTCAGAAGGACCCCAG
Seq A exon
ATAGTCAACAGAACTTGCTGATGGATTCCATGAGGGAAGATGAAGAAAAGAGAGGAATCAAAGAGAAGTCTATTTCGTTTCAAGCAGATGTATAGATTCCTGTGCAGATAGTGG
Seq C2 exon
GTGTGTAGGTTAGGGGGAATCAAGCATCTGGTTGACCTTCTGGACCACAGAGTTTTGGAAGTTCAGAAGAATGCTTGTGGTGCCCTTCGAAACCTCGTTTTTGGCAAGTCTACAGATGAAAATAAAATAGCAATGAAGAATGTTGGTGGGATACCTGCCTTGTTGCGACTGTTGAGAAAATCTATTGATGCAGAAGTAAGGGAGCTTGTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283_MULTIEX4-1/4=C1-3
Average complexity
C2
Mappability confidence:
94%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.577 A=1.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0051418=Arm=PD(80.5=45.8),PF0051418=Arm=PU(81.0=47.2)
Main Inclusion Isoform:
ENST00000389759fB22694
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
CATCCAGCCAACGAAGTACCC
R:
TGTGGTCCAGAAGGTCAACCA
Band lengths:
245-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains