HsaINT0130401 @ hg38
Intron Retention
Gene
ENSG00000118898 | PPL
Description
periplakin [Source:HGNC Symbol;Acc:HGNC:9273]
Coordinates
chr16:4888978-4890334:-
Coord C1 exon
chr16:4890184-4890334
Coord A exon
chr16:4889062-4890183
Coord C2 exon
chr16:4888978-4889061
Length
1122 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
3' ss Seq
TTTTAAACTCTGTCTTACAGAAC
3' ss Score
9.5
Exon sequences
Seq C1 exon
GGCGCAGAGCCTACAGAGCGCCAAGGCAGCCTACGAGCACTTCCACCGCGGCCATGACCACGTGCTGCAGTTCCTAGTCAGCATCCCCAGTTACGAGCCCCAGGAGACAGACAGCCTCAGCCAGATGGAGACCAAGCTGAAGAACCAGAAG
Seq A exon
GTGAGATGGCCGTTTCCGCAGCCCCAGGCACACACTGGCAAGGGAGGGTCAGAGGTCAACAAGCCCCTTTCTGGGGAGCCAAGCCTTTGGGAGGTGGAGCAGGGCAGAGGCCTGCCACAGCTGTGTCCTCCCTGGGCCTCAGCTCAAGCTCCCAACACCCAACCCTCTGAGAACAAGAACCGAGTGTGTCGCTCACCTCTCCCAGCTCAGTGCCCCGCACAGGGCCTGGTGCAGAATGGACACTTGGCGTGGGTTGGCTATGTGAGTGAACAGCTACAGAATGAGGAGCCGCCTTTGTGGGGGAAATCCCATTTTCAAAGTTGGGACTCCTGCCTCCCCCATGCCCAACGCAGTGCCTTGGGGTGAGGGAGGAACACGGGAAGCCAATGGCTGAGATGCAAATCCCGGGTCCACCCCATCAGCCACATCCCCACCTCAGAAGCTTTCCTCACTCATAAGCTGGAGGTCACGATGCTTACCTCCTGGCATCGTTTGAAGATTAAATGAGATAATCTAAGTCAGACAGCAGAACAGTGTCTGGTGGTCCAAATCATCAGTAAACATTTGTTTCCTAGCAGAGATAATGATCTTGGCCCTTCTTCACAGAGCCTTAGAACTGCCTTTTGTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCGGCATTTTGGGAGGCTGAGGCAGGAGGATCACAAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATAATGAAACCAAATCTCTACTAAAAATACAAAAAAAAATTAGCTGGGTATGGTGGCAGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCTAAGGCTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGCGATGCAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACAACAACAAAAAAACTGCCTTTTGCAATGAATAAAAATGTATACAAGGGAGCCATTCATCATACTTTGTGCTAGAGAAGAATAAATTCAGATTCTGAGATTTCCAGCTACTGCATCCATGGTTGCTTTTTTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAG
Seq C2 exon
AACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898:ENST00000345988:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.357 A=NA C2=0.100
Domain overlap (PFAM):
C1:
PF0026115=Tropomyosin=FE(39.4=100)
A:
NA
C2:
PF0026115=Tropomyosin=PD(16.5=75.0)
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:
GCGCAGAGCCTACAGAGC
R:
CTGGTACTGCTGGGAATTGGC
Band lengths:
222-1344
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