HsaINT0126238 @ hg38
Intron Retention
Gene
ENSG00000184363 | PKP3
Description
plakophilin 3 [Source:HGNC Symbol;Acc:HGNC:9025]
Coordinates
chr11:399967-400451:+
Coord C1 exon
chr11:399967-400141
Coord A exon
chr11:400142-400333
Coord C2 exon
chr11:400334-400451
Length
192 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGC
5' ss Score
9.1
3' ss Seq
TGATCCACCTCGGTCCCCAGGAA
3' ss Score
8.2
Exon sequences
Seq C1 exon
GGATCCTGTGGAACCTTTCATCCAGCGACCACCTGAAGGACCGCCTGGCCAGAGACACGCTGGAGCAGCTCACAGACCTGGTGTTGAGCCCCCTGTCGGGGGCTGGGGGTCCCCCCCTCATCCAGCAGAACGCCTCGGAGGCAGAGATCTTCTACAACGCCACCGGCTTCCTCAG
Seq A exon
GTGCGCCAGCCTCGGGCAGCGGGGTGGGGATTGCAGGCGCGGGTCACTGTGGGGACTCCGCCTGGCCTGGCGTTCGCAGCCCACACACCGCACGCCTCGCGCTGGGGATGGGCGTGCGAGGGCCCACGATGGGTTGGGGCAAGGCCCGGGATGCGGGGTCCCTGGGGGGCTCTGATCCACCTCGGTCCCCAG
Seq C2 exon
GAACCTCAGCTCAGCCTCTCAGGCCACTCGCCAGAAGATGCGGGAGTGCCACGGGCTGGTGGACGCCCTGGTCACCTCTATCAACCACGCCCTGGACGCGGGCAAATGCGAGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184363:ENST00000331563:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0051418=Arm=PD(17.1=11.9)
A:
NA
C2:
NO
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:
AACCTTTCATCCAGCGACCAC
R:
GCGTGGTTGATAGAGGTGACC
Band lengths:
254-446
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