HsaINT0130397 @ hg38
Intron Retention
Gene
ENSG00000118898 | PPL
Description
periplakin [Source:HGNC Symbol;Acc:HGNC:9273]
Coordinates
chr16:4892035-4893370:-
Coord C1 exon
chr16:4893213-4893370
Coord A exon
chr16:4892214-4893212
Coord C2 exon
chr16:4892035-4892213
Length
999 bp
Sequences
Splice sites
5' ss Seq
AAGGTACCT
5' ss Score
8.49
3' ss Seq
AGGGGCCCTGGTTCCCACAGAAC
3' ss Score
7.72
Exon sequences
Seq C1 exon
ATGCCTCTGACCTACAGGGGCGGCAGCTGCTGGCTGGCTTGGACAAGGTGGCCAGCGACCTGGACCGGCAGGAGAAGGCCATCACAGGGATCCTGCGGCCACCACTGGAGCAAGGCCGGGCTGTGCAGGACAGTGCCGAGCGGGCCAAGGACCTCAAG
Seq A exon
GTACCTGCGGGTCAGGAGCACAGGTGGGGCCGGGGGAGCCCTGCACTGGCCCCCTGGGGCCCCTATTTGAGGTCTTTTCCCCATGGAGTCTTGGGATATTCACTGCAGCTGTCTGTCAGGGACAGCCTGCTGCATGTAAAAGGGTCCCAAGTCATGGAGGTGGCAGGGCTGCTGTCATTACCTCCCCAGGAGAAAGAGCTGGCAGGACTTGCATTGTTCCTGCACGGCTTGTCGATCTGACGCCTGGCATGGCACATGGGCTGTGGAATTCCGCAGGACTGGGTCACCGGCTGGCTTGACTGCAAACACGTTAGCGTTTGTATTTATAAACTCCAGGCCTCAGTGTCTTCAGTAGGATGGGTTGGCCCTGCTCACAGGGCAGTGGCGAGGACAGGGTGAGCTGATGCCAGGGGGGACGTGGAGGGGCCACCTCCCCCCACCTCCTTTCCTATACAAAGTCTCCCACATCCTCAAGGCAGCCCTCTGAGGCAGTGAGTAGCACTCCAATTTTACAGAAGAGGATCTGGGATTGGAGAAGTGCCATAGCCCCTGATGGGGCCTCAGAGTGAGAGCCAAGTCAGGGCGAGAGGATGCCGGTCTCGGGTGTAGCCTGACCCCACAAGTCCCTTCCTAAGCTGCTGGGAGTCGTCACACCCCCACCCGTGACTGGGTGGAGTCGTAGTACTCACCTCCCGGGGTTGCCGCAAAGATTAAACAGAAGCGTCCGCGTGCAGTGCTGAGGACAGCACAGGCCCGGCAGCTGCCTGGGTGCTTCTGGTGTCACTAGTCCATTCCACCTCAGCGGTTCCCTGGGATGCTCGTGAAAAATACAGCCCTCAGGCTGGGGTCCAGATGCCGGGTCAGAGCCCCAGAATGTGCCAGGCCTCTCCAGCTGCTTCCACTGTGCCTGATGTGGGAATCTGTGCTCACCCTGGGCACATCCTCAGGGGAAGGGGCTGCCTGGCTGTGTCCAAAACTGAGGGGCCCTGGTTCCCACAG
Seq C2 exon
AACATCACCAACGAGCTACTGCGGATTGAACCTGAGAAGACGCGGAGCACGGCTGAGGGCGAAGCCTTCATCCAGGCCCTCCCAGGCAGTGGCACCACACCCCTGCTGAGGACCCGGGTGGAGGACACCAACCGGAAATACGAGCACCTCCTGCAGCTGCTGGACTTGGCCCAGGAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898:ENST00000345988:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.528 A=NA C2=0.567
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCCTCTGACCTACAGGG
R:
TTCTCCTGGGCCAAGTCCA
Band lengths:
337-1336
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development