Special

HsaINT0130411 @ hg38

Intron Retention

Gene
Description
periplakin [Source:HGNC Symbol;Acc:HGNC:9273]
Coordinates
chr16:4897675-4899120:-
Coord C1 exon
chr16:4899013-4899120
Coord A exon
chr16:4897771-4899012
Coord C2 exon
chr16:4897675-4897770
Length
1242 bp
Sequences
Splice sites
5' ss Seq
GAGGTTCAT
5' ss Score
1.75
3' ss Seq
GCCCCTTCTCTTCCTGGCAGGCG
3' ss Score
10.69
Exon sequences
Seq C1 exon
AATTTCATCAACCGGAACCTGGAGGCCAAAGAGGAGAGAATCAACAAACTGCACAGCGAGGGCGACCAGCTGCTGGCGGCCGAGCACCCCGGGAGGAACTCCATTGAG
Seq A exon
GTTCATGCACCCCGAGACCAGACACCTCCCCCAGGGTGGCTTCTGGTTGGCCGCTGCCTGTGGGCCGCCTGGAGCTCGGGCAGACCCCGGAGCTGGGGGTCCTGCAAGCTGCATCTTGTGTCTGTCTGTCTCTTTCTTGCTGTGTCTGACTCTGCCTCCTCCATTTATCCTGATCCGTTGACACTTCTGCCCTCAGCCCCTGGACTTCTGAAGCCCCTGTGGGGTCTGTATTAGTTTCCTAGAGTTGCTGCAACAAGTTAAAACAAACTTAGTGGCTTTAAACAACAGAAATTCATTCTCTCAGAGGTCTGTGGGCTGTAAGTCTGAAATCAAGGTGTCTTAGGGCCTCATTCCCTCTGGAAGCTCCAGGACATGTGCCTTCCTTGCTCTTCCGGCTTCTGGGGGTTGCCAACAGCCCTTGGCTTGTGGCTGCATCATTCCAGTCCCTTCCTCCGTCTTCACATGGCCTTCTCTCCCCATGTCTCTCTGTATCCTCTCTTCTTATAAGGATATCAGTCAGTGGATTTAGGGCTCACCCTAATTTCAGGATCCTTAACTAATGACATCTGCAAAGATCTTATTCCCAAATAAGGTCGCATTCTTCCCAACCCCCACAATGCCACCAACCCCGCCTGAGATGGAGTTTCGCTGTTGTTGCCCAGGCTGGAGTGCGATGGTGTAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCATCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCATCATGTGGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCATGCCTGGCCAGGGTCATGGATTTGGTGGGACACTGTTCGGTCCATGACAGTGCCTTTGTACAGATTTGCCGAAGGCACCACAGCCCCCACTTGCCCTTTGTGCACTGCACAGCCTGGGCATCCGTATGTGGCATCCCTGTTTGGCTCCTTGACGTGACCCCTCTCTCCTCCTCCCACTCCTGAGCAGAAGCTGGCTACCCCTGTGGTAGCCACACCCAGACAGATGCCAGATGCCTCCCTCCCCCGCCATGCCCCAGCCCAATATCCCAGCAGTCCCTCCCTTGGTGTCTGCAGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAG
Seq C2 exon
GCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898:ENST00000345988:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.500 A=NA C2=0.031
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=FE(33.7=100)
A:
NA
C2:
PF0043516=Spectrin=PD(22.1=71.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
(ppl)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATCAACCGGAACCTGGAGG
R:
GGTGGTAGTCCTCCATGTACT
Band lengths:
198-1440
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development