Special

HsaINT0130401 @ hg19

Intron Retention

Gene
Description
periplakin [Source:HGNC Symbol;Acc:9273]
Coordinates
chr16:4938979-4940335:-
Coord C1 exon
chr16:4940185-4940335
Coord A exon
chr16:4939063-4940184
Coord C2 exon
chr16:4938979-4939062
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-PPL:NM_002705:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.314 A=NA C2=0.071
Domain overlap (PFAM):

C1:
PF0026115=Tropomyosin=FE(33.3=100)
A:
NA
C2:
PF0026115=Tropomyosin=FE(18.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
(ppl)
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