Special

HsaINT0130402 @ hg38

Intron Retention

Gene
Description
periplakin [Source:HGNC Symbol;Acc:HGNC:9273]
Coordinates
chr16:4888102-4889061:-
Coord C1 exon
chr16:4888978-4889061
Coord A exon
chr16:4888219-4888977
Coord C2 exon
chr16:4888102-4888218
Length
759 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
3' ss Seq
CATGTCTCTCCCTCATGCAGGAC
3' ss Score
11.52
Exon sequences
Seq C1 exon
AACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAG
Seq A exon
GTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAGGGGTCTTATTCCACCGTGCCCTGGTCAGAGAAGCAGCAAGCACCGGCCCTGGCACATGGGGGTGGAGCTGGCCATCCGAGGCACTGCCGGCTGCTGTGCAAACTGGCACAGGCTTTTGGGAAAACAGCATGGTACTAGACATGGAATGCTGTAAAAGGGTTTTATACTCTGAAGCAGTAAACACTTTGGGGGAATTTATCCTTAAGGAAAAAGTACAAAAAAAAAAATGCAGGATAAACAACATTGTTGCAACAGCACTATTTACAATAGCAAAACTAGTACGCTGGAAAGGACTGGTGTCCAGTGGAAGGGGAAAGCTGCGTGAATCAGCACACATCCACCTGATGGATTATAAAGTCAGCAAGCTGGTAAACATGAGAAGAGGTGGTGGCAAGGTGAGACAGGGTTATGGTACGATGTTAAAAGCAGCAGCAGAATGTGAAAATCTCTAGGCATGTAGAAAGGCTGGGAGGGGAATTCAGGGGGCACTTCTTGTCTCATATGTTACTGAGTGATGGAGCTATGTACTGCTGAGATATCAGTAATTCTCAAAACCTCCTGGAAATCACTGCAGGGTGCAGCTGTGAGGAAGACCCACGCAGATTATAAAACCAGCACATGGCACAGGGCAGGTCTGGGTCAGCCTGAAGGGGTACAGGAACATGTCTGTCTCTTCTCAGCTGTTTTAATCTCCCCTCTGCCATGTCTCTCCCTCATGCAG
Seq C2 exon
GACTATGAGTTAGAAGCAGAAAAACTAAGGTCTCTTCTCGACTTGGAGAATGGAAGGAGAAGCCACGTGAGCAAGAGAGCCAGGCTCCAATCTCCTGCCACCAAAGTGAAGGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898:ENST00000345988:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.100 A=NA C2=0.378
Domain overlap (PFAM):

C1:
PF0026115=Tropomyosin=PD(16.5=75.0)
A:
NA
C2:
PF0026115=Tropomyosin=PD(10.7=41.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
(ppl)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGATAGCAAGTAGGGAGCAGG
R:
CTCTTCCTTCACTTTGGTGGCA
Band lengths:
190-949
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