HsaINT0130399 @ hg38
Intron Retention
Gene
ENSG00000118898 | PPL
Description
periplakin [Source:HGNC Symbol;Acc:HGNC:9273]
Coordinates
chr16:4890728-4891949:-
Coord C1 exon
chr16:4891811-4891949
Coord A exon
chr16:4890922-4891810
Coord C2 exon
chr16:4890728-4890921
Length
889 bp
Sequences
Splice sites
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
3' ss Seq
CTCCTCCTCTGCCCCGCCAGGCC
3' ss Score
9.06
Exon sequences
Seq C1 exon
GGTTGATGTGGCCAACCGCCTGGAGAAGAGCCTGCAGCAGAGCTGGGAGTTGCTGGCCACACACGAGAACCATCTGAATCAGGATGACACAGTGCCTGAGAGCAGCCGTGTCCTGGACAGCAAGGGGCAGGAGCTGGCG
Seq A exon
GTGAGTCTAGGGCCCAAGTCCTGGGAGTCCTTCTCTGAGCAGGTGAGAGCATCTGGCACATCCACCCGCCCGTCTGGATAGATGAGGACACCAGCATCCAGTCTCCCCAGGTTTGGAATGCCCAAATTGGGAACTGCAAATGGAGGCCCACAGCACAAATCCAAGCTATTCACGGGATCTGTGTGACTTACGGGATTTCGGGTGCCAGCATTTTAAGATCAAATATCTGCAATAGCCAGTGTAGTGGCACATGCCTGTAACACCAGCCATTCAGGAGGCTGGGGCAGGATTGCTTGAGCCTTGGAGTTTAAGTCCAGCCGCCTGGACAACGTTGCAAGACCCTATCTCTTAAAAAAAAAAAAAAAAAAAAAAAAGCATAAAGCACATAACAATCCATGTTCCCAGTATCTCTTGCTGAGCAGAGCTGGCATCCTGGGCTGCAGCTCAGAGGGCAAGTCAGTGGGCAGAGGAGCAGCTGCCTTCTCGGCCTGCTTACCTCGCAGTTGCCACGGGCCCCCTTCCCACACTGCCTGAGCACAGGAAACATTCAAGTCTGTGACCTGAGGCCCCTTATTCACACTCCCATCTCACGACTTGCTTTTGCCACAGCCTCATGACCAGACAGTGGCAGGCTGTTCTCGCGCAGGGCACGAGCTGCCTGCTGCAGGGTTTTTAGAAGTTAGCTTTTCAGGGCTTTGTTCATTGTTAAAAAACAGAAGATGGCAGAAGTGACCCAGGTTTGGGATGTACAGAGCAAGGCTCCGGTCCTTCCTACCTGTGGCCTTGCCCACCCTCCTACAGTCAGTGGCCCAGGGGCTTCAGTGGGTGTCATCGCCTGGCTCTGGGAGCTCTGGCCGTAGCACCGCCGTCTCCTCCTCTGCCCCGCCAG
Seq C2 exon
GCCATGGCCTGTGAGTTACAGGCCCAGAAGTCCCTCCTGGGTGAGGTGGAGCAGAACTTGCAGGCGGCCAAGCAGTGCTCGAGCACACTGGCCAGCCGCTTCCAGGAGCACTGTCCGGACCTGGAGCGCCAGGAGGCCGAGGTGCACAAGCTGGGCCAGCGTTTCAACAACCTGCGCCAGCAGGTGGAACGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898:ENST00000345988:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.468 A=NA C2=0.169
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0026115=Tropomyosin=PU(42.5=83.1)
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:
CAACCGCCTGGAGAAGAGC
R:
CTGCGTTCCACCTGCTGG
Band lengths:
321-1210
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