HsaINT0126237 @ hg38
Intron Retention
Gene
ENSG00000184363 | PKP3
Description
plakophilin 3 [Source:HGNC Symbol;Acc:HGNC:9025]
Coordinates
chr11:398992-400141:+
Coord C1 exon
chr11:398992-399196
Coord A exon
chr11:399197-399966
Coord C2 exon
chr11:399967-400141
Length
770 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCTG
5' ss Score
4.87
3' ss Seq
CAGCCTCCCCCGTCCTCCAGGGA
3' ss Score
8.96
Exon sequences
Seq C1 exon
GCCCGCAGCCTTCAGGCCGTGCCTAGGCTGGTGAAGCTCTTCAACCACGCCAACCAGGAAGTGCAGCGCCATGCCACAGGTGCCATGCGCAACCTCATCTACGACAACGCTGACAACAAGCTGGCCCTGGTGGAGGAGAACGGGATCTTCGAGCTGCTGCGGACACTGCGGGAGCAGGATGATGAGCTTCGCAAAAATGTCACAG
Seq A exon
GTGCTGCCTGTCCCCTCCTCCACCTGTCCTTCCTCCACCTGCGCCCCTCTGCCTATCCCCCCTGCCTTCCTCCCCACCTGCCCCCCTCCACCTGCCCACCATCTGCCCCCCTTCTCCACCTGCCCCCTCTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCCCCACCTGCCCGCCATCTGCCCCACTCCTCCACCTGCCCCCTCCTCCACCTGCCCCCTCTGCCTGTCCCCTACTCCTCCTGTCCTCCCTCTGTGTCCCCCCCACCTGGCCCCCCTCCTCCACCTGCCCCCTCTGCCTATCCCCCACCTGTCCCCCCCTCCACCTGTCCCCCTTTTCTGCCTGTCCCCCTCCTCCTGTCCCTCCTCTGCCTGTCCTCTCTCCTCCGTTCTGACCCCTCCACCTCATTCGGTTCCCCTCCGTCCCTTTGTACCTTTTGCCGGCCGTGTTTCTACTTGGGCCTCCACTGCCCGCCTCTTTCCTGGACCCCCGGCCACCCTGTCCTGTGGTTTTGTCTCCTTGGAGCCGCCTGCACTGCCAGGCCTGCTCACCACCCCACCCCCACATCTTGTCCCCTCTTGCTTGGTCCCAGCTCTATCACCTCAAATGCCACCCCAGGGTCTCCCCAGTGGGGCTCGTGGGTGAGGCACAGAACACCAGGCCAGCCCCTGGGGAGAGGCGGGACCTCTTCACACCATCCCCAGAAACGCGGAGGGGGTTGGAGGGCAGACGCTGATAGCAGCCTCCCCCGTCCTCCAG
Seq C2 exon
GGATCCTGTGGAACCTTTCATCCAGCGACCACCTGAAGGACCGCCTGGCCAGAGACACGCTGGAGCAGCTCACAGACCTGGTGTTGAGCCCCCTGTCGGGGGCTGGGGGTCCCCCCCTCATCCAGCAGAACGCCTCGGAGGCAGAGATCTTCTACAACGCCACCGGCTTCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184363:ENST00000331563:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.034
Domain overlap (PFAM):
C1:
PF0051418=Arm=PD(80.5=47.8),PF0051418=Arm=PU(80.5=47.8)
A:
NA
C2:
PF0051418=Arm=PD(17.1=11.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGCCTAGGCTGGTGAAG
R:
CCGGTGGCGTTGTAGAAGATC
Band lengths:
354-1124
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development