HsaINT0130405 @ hg38
Intron Retention
Gene
ENSG00000118898 | PPL
Description
periplakin [Source:HGNC Symbol;Acc:HGNC:9273]
Coordinates
chr16:4882507-4887227:-
Coord C1 exon
chr16:4887135-4887227
Coord A exon
chr16:4886048-4887134
Coord C2 exon
chr16:4882507-4886047
Length
1087 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACT
5' ss Score
8.63
3' ss Seq
TCTTGTCTTCTCCATCACAGCAG
3' ss Score
7.3
Exon sequences
Seq C1 exon
GAAGCAGCACTTGCCGCCAAGTTCACTGAAGTTTATGCCATCAACAGACAGAGGCTGCAGAATCTGGAGTTTGCTCTGAATCTCCTCAGACAG
Seq A exon
GTAACTGATCTTAGTAAGAAATTCTACTTCAGGCTGTTCTAACAGGTGACAAATACAGACTCTGTCTTAGAGAAATGGTTTGTGAATTGATGGAAGTGTCCCCTTGCTAACGTTTCTGGGCAGGGCCAATGCAAAGACTGGCCCGAGCCAATGCTTCTACTGACATGAGAACTTATTCAACTCAGTAAACATCTGCTGAAAGTGAATGCTATTTTCAGCTGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTCGTGGCGCATGCTTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGGGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAGAAAAAAAGAAAGAAACAAAAGAAAGTGAATGTTATTTTCTGAAGTCCATGATGTTGATGACAGCATTGTTTTTTAATAGCAAGACACTGGAAGCAGTTCACTCTTCATCAGCAATGGGCTAAACTGCGGTCTGTCCAGAGAGCGGAAACAATGCTGCTGGTAAATCCTGAAGCAGCACTCTCTGTGCTGAGCTGGAATGAGCTCTGTAAGTGCAGTGAGCAGCAGGAATACCATTTGTGCAGGAGAGATAAACACATGGTACATACTACAGACAGATATTCTTGTGTGAGCACAGATAGCATCTGCAAGGCTGACAGACACGCCCTAGGACGGGGACCAGAGGTGGGAGACCGTGGTTTCATTTTAAACTCTTCCACAGCTCAAAAATGTTTTACCTGATTAAAAAAAACCCCAAACTAGTTGTTTGATCCTTTTTGAAAGTAACCCTAGAACTCTACAACTAACATGAACTGGCACTGAGGGAGTCCCTTGGGGACCACAGGACAGCCACTCTGACCAGGTGGGGACAGGCCCTACATGTGCTGCCAGAGCCTGGCTTTAACCTTGTCTTGTCTTCTCCATCACAG
Seq C2 exon
CAGCCGGAAGTAGAAGTGACCCATGAGACCCTGCAAAGGAATAGGCCGGACTCTGGAGTGGAGGAGGCGTGGAAGATCAGGAAGGAACTGGATGAGGAGACTGAGCGGAGGCGGCAGCTGGAGAACGAGGTCAAGAGCACCCAGGAAGAAATCTGGACCTTGAGGAATCAGGGGCCTCAGGAATCGGTGGTGAGGAAGGAGGTGCTCAAGAAGGTGCCGGATCCCGTGCTGGAGGAGAGCTTCCAGCAGCTGCAGCGGACGCTGGCAGAGGAGCAGCACAAGAACCAGCTGCTGCAGGAGGAGCTGGAGGCACTGCAGCTGCAGCTGCGTGCCCTGGAGCAGGAGACCAGAGACGGGGGGCAGGAGTACGTGGTCAAGGAGGTCCTGCGCATCGAGCCTGACAGGGCCCAGGCGGATGAGGTCTTGCAGCTGCGGGAGGAGCTGGAGGCACTGAGGCGGCAGAAGGGCGCCCGGGAGGCAGAGGTGCTCCTCCTGCAGCAGCGTGTGGCCGCCCTGGCTGAAGAGAAGAGCCGGGCGCAGGAGAAGGTCACAGAGAAAGAGGTGGTGAAACTGCAGAATGACCCCCAGCTGGAGGCAGAGTACCAGCAGCTGCAGGAGGACCACCAGCGCCAGGACCAGCTCAGGGAGAAGCAGGAGGAGGAGCTGAGCTTCCTCCAGGACAAGCTCAAGAGGCTAGAGAAGGAGCGGGCCATGGCCGAGGGCAAGATCACCGTCAAGGAGGTGCTCAAGGTGGAGAAGGACGCGGCCACCGAGAGGGAGGTCAGCGATCTCACCCGCCAATATGAGGACGAGGCTGCCAAGGCTCGCGCTAGCCAGAGGGAGAAGACGGAGCTGCTCCGAAAGATATGGGCCTTGGAGGAGGAGAACGCCAAAGTGGTGGTGCAGGAGAAGGTGCGGGAGATCGTGCGGCCAGACCCCAAGGCGGAAAGTGAAGTGGCGAACCTCCGCCTGGAGCTTGTGGAGCAGGAGCGAAAGTACCGGGGTGCCGAGGAGCAGCTCCGGAGCTACCAGAGTGAGCTGGAGGCCCTCAGGAGGCGAGGCCCCCAGGTGGAAGTCAAAGAGGTGACTAAGGAAGTCATTAAGTACAAGACTGACCCTGAGATGGAGAAGGAGCTTCAGCGGCTCAGGGAGGAGATCGTGGACAAGACCAGACTGATCGAAAGGTGTGATTTAGAGATCTACCAGCTGAAAAAGGAAATCCAGGCCCTGAAAGACACCAAACCCCAGGTCCAGACCAAAGAGGTGGTCCAGGAGATCCTCCAATTCCAAGAAGACCCTCAAACCAAGGAGGAGGTGGCGTCTCTGAGGGCAAAGCTCTCAGAGGAGCAGAAGAAACAAGTGGATCTGGAGAGGGAAAGAGCTTCCCAGGAAGAGCAGATCGCCCGGAAAGAGGAGGAGCTCTCGCGGGTGAAGGAAAGGGTGGTGCAGCAGGAGGTGGTCAGGTATGAGGAGGAGCCAGGCCTGCGGGCCGAGGCGAGCGCCTTTGCCGAGAGCATCGATGTGGAGCTGCGGCAGATTGACAAGCTGCGGGCAGAGCTGCGGCGGCTGCAGCGCCGGCGCACCGAGCTTGAGCGGCAGCTGGAGGAGCTAGAGCGCGAGCGGCAGGCCCGCAGGGAGGCCGAGCGCGAGGTACAGCGGTTGCAGCAGCGGCTGGCAGCGCTGGAGCAGGAAGAAGCTGAGGCCCGTGAGAAGGTAACCCATACGCAGAAGGTGGTGCTGCAGCAGGACCCGCAGCAGGCGCGAGAGCATGCCCTGCTCCGACTCCAGCTGGAAGAAGAGCAGCACCGGCGGCAGCTCCTGGAGGGGGAGCTCGAGACCCTCCGGAGGAAACTGGCTGCACTGGAGAAGGCGGAGGTCAAGGAGAAGGTGGTGCTCTCCGAGAGTGTCCAGGTGGAGAAGGGCGACACCGAGCAAGAGATCCAGAGGCTCAAGAGCAGCCTGGAGGAGGAGAGCCGCAGCAAGCGCGAGCTGGACGTCGAGGTGAGCCGGCTGGAAGCCAGGCTTTCGGAGCTGGAATTCCATAACTCCAAGTCATCCAAGGAACTAGACTTTCTGAGGGAAGAGAACCACAAATTACAGCTGGAGAGGCAAAACCTGCAGCTGGAGACCCGAAGGCTCCAATCGGAAATCAACATGGCAGCGACGGAAACACGAGACCTGCGGAACATGACCGTGGCGGACTCTGGGACCAACCATGACTCCAGACTGTGGTCCCTGGAGAGGGAACTGGATGACCTCAAGAGGCTCTCCAAGGACAAAGACCTCGAGATCGACGAGCTGCAGAAGCGCCTGGGCTCCGTGGCCGTCAAGCGGGAGCAGCGGGAGAACCACCTGCGGCGCTCCATCGTAGTCATCCACCCTGACACAGGCCGCGAGCTGTCCCCGGAGGAAGCCCACCGTGCCGGGCTCATTGACTGGAACATGTTCGTGAAACTCAGAAGCCAGGAGTGCGACTGGGAGGAGATCTCAGTGAAGGGTCCCAATGGGGAGTCCTCAGTGATACACGACAGGAAGTCTGGCAAGAAGTTCTCCATCGAAGAGGCCCTGCAGAGTGGCAGGCTGACCCCTGCTCAGTATGACCGCTATGTCAACAAGGATATGTCCATCCAGGAGCTGGCGGTCTTGGTATCTGGGCAGAAGTAGGCACAGCTCTTGCAACTCTTCGTAACGGCAGACGCTGGCCCTCTCCTACGACGCAGTGACCTCCTTGGTGTCGTCCTCTCCCTTGCCCTGGTGCAGGCCAAGCATTTTATACATACCCTCGCTGCCAGGCTGCTCAGAGTCCCGCCCACATATGAGACAGGCACTGGCTGAAGACAGGCAACTCTCGTCCCAACCATCATTCACCCTGAGTGACGTACTTCATCCTCCAATGACTGGACAACTGCGATGCCTTTTCCTCCCTTTTCCTGTACACTCCCAGCAACAAACTCCTCATGATAACTGCACACAATCTGAAAACCACTGAAGGACAAGCCAACCACAGCAGCCAAGCCCACTCCTTGCAGCATGGGTACTGGTGGCACACCAGACAGTGACACTGCCCCACAAAGGCCTGGGCCCGTGGGGGCTGCTGCCTGGCATGACATCTCTCCAGATTTCTGGCTTAAAACCAACTTTCCATCCGAGAAGCCTCCTCAGTAGTTACTCTGCTCATGAGACAGATCTGGGCTCCAAGCCAGGAAAGGTGAACAGAAACCACAAGTGTCCAGCCCTCGGTGCTGGAGTGGACGTTAATTGTCAGCCACCAGACTGTCCCGGCACCTACAGAGAATGTTTCACAGTTCTGGCATTTAAATCCTTTGATAGTGGATTGTGCTGCTGTTAGCCTTAGTTTCAGTGCTTTACAAGTCTCGCTTATTATCTCACTGGTATTTAGGTATACAAAACAGTTGATTATTCACCACGCCAATATCTGGGTCTCTGTATCTCATGTAGAACATAAGAAAATGGGAACTAATAGGGAAATTTATTTATAGCATGAAAATAAACCTGGTGGCTGGAGTCTGCTTGTACGGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898:ENST00000345988:21
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.024 A=NA C2=0.240
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0068115=Plectin=WD(100=4.2)
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:
CCATCAACAGACAGAGGCTGC
R:
GGTTCTTGTGCTGCTCCTCTG
Band lengths:
342-1429
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