HsaINT0126249 @ hg38
Intron Retention
Gene
ENSG00000144283 | PKP4
Description
plakophilin 4 [Source:HGNC Symbol;Acc:HGNC:9026]
Coordinates
chr2:158666413-158669915:+
Coord C1 exon
chr2:158666413-158666563
Coord A exon
chr2:158666564-158669719
Coord C2 exon
chr2:158669720-158669915
Length
3156 bp
Sequences
Splice sites
5' ss Seq
TAGGTATGT
5' ss Score
7.76
3' ss Seq
TACTCTTTTGCCGTTGGCAGGCA
3' ss Score
6.82
Exon sequences
Seq C1 exon
TTTGCAGCATATATCCGGGCGGCCGTCCGAAAAGAAAAGGGGCTCCCCATCCTTGTGGAGCTTCTGAGAATGGATAACGATAGAGTTGTTTCTTCCGTGGCAACAGCCTTGAGGAATATGGCACTAGATGTTCGCAACAAGGAGCTCATAG
Seq A exon
GTATGTTCTGGTGACAAGATGAGCTGTAAATGTGAGAGCAGCTACAAAATTCATGAAACTCTTCTTTTGATTAATAAATATATGGCTTGTAAAATCATTAACAGCTGAGCCCTAGTCTCCAGTTTCTTGGCATATTTGAGTACTCCTGTTTTGTGACCATTCTTTTTCAGCAGGAGGCAAGCTCATTAATTAGTCATTGATTAGGGAAGGTAAATTTTCAGAAAGGCCAGCAATTTTAGTTGTACCTTACAACACTAGTAGGGTTAATGTCTCTCATTTCTAAGAGAGTTCTCTATATCCTGAGCAACAAAAAATCTTAATCTCCCTTTCCAATTTTTGGACTGCTACCTGCTAATTCACCAACACTACCATACTCTAAATAAAAAATCACATGAATGTTTTGTAGCTTTCCCCTCTCACATTGGTATAAATCTTTATCCCAGAGAAGAACCACTGTCCCAACATCATTTCCACCCTGGGCAGGGGCAGGACTAGGGTGAGCTAAGCAAGGCGCCAAAGGCACAACATTTTAGGAGGCCTTTACTCTCAGGTTTGTACAAGGTAGGGTTGGCACATGCACAAACCAAACAGTGAGGACCTCTGTACGCTCCGCACCCCAGGCAGCTTGCTTGCCTCTGCGGCATTGCCACATCCTAGGCAGGATGCGGGCTAAAGAAGACATCAGGGACCCCCATAAACCTGAGCTTCGTTCCCAGGATGTGCTGCTCACTGGCCATGCAACCTGGGGTATCCTATATAACCCCGTTCAGGCTCCGTAATTCTATCTAGATTGGAAATGAAAGGCAACTCCTCATCTCTGAAGGGGAGCTGTTGATGCCTGCTGTCCTAACTGGGTTTGCTGTAAAGAGGAAATGAGAGAGCTCCATGCCAAGTCCCACAGCTGGTGACAGGTCAGGGGAGAAGGAGGGGAAATGGGACAAGATCTTATGTGGATTCATGTGAATCTATAGTAAACTTAAAATACACCTGCCATGAGAGAAGGAGAGAGAAACAAGGGCGATGATGTTTACCATAAAGAATTGCTGTAAGGATTAAACGTGATGACTTACAATGGAAGCCCTTCACACAGTGCCTGACAGAATTGCTATTTTGAATTGTTGCCCAGATTAACCTGCTCTTAACACACCATTCCTTTAAGCCAAATCATCCCCCTACGGAGAGGAAAGGAAGTTCCTCCTCACCCTGTTCATGGTCCAGCTCATGCCTGATTCTTGTAGATGTGCCATATCTCTCAGTTCCCACACTTCCTTTACAGAAATCCTTCAGGTCCCTAAAGAGAGATATTCTTTAAAGTTATTTTTCTTACGTCTGTATTGTTTGGATTTCTTATAAGAAGCATGTATAATTTGGGCATTTTTAATGCTAAAAAATAAATGGTTGACACGTATATCCTGTGGCCTGTCATATTTCACAACGCAAAGACACAGGTAGACAGGAGTCCTTGAGCTGGTACTGTGAAGTGCTAAGACCTTTGGCAAGAGGAATGTGTGTTCCAAGTCTTGGCTTCCTCTCAGTGCATTTCTGTGTTTTCTGTGAATAACCCTTTTTAACTTCCACTGGCCTTCTGCCTCTCCAGTGATGAGCTTTTTTTTTTTTTTTTTAACCTGGCTGGAGCACTCTTGAACTGTTCCATCAGTCTGTTTTTTTGTTTCCCTATTCCCGTCTTCCTGTGAGATCTGCCTCACTCTTGGATTCAGTATTTGGCTCTAATTTACCCAGTACTTCAGTTCCTAGGAACCTTCCCCTTCTCTGACCTCTTCCCTCTTTTTTCACATTCATCATCAGCACTAGCAAAGGACTTTCTTTTCAGAGCCATTTTTCACAAAGAAGCAAAGTTTTATCACTTCATAAAAGTTACTACATACTCAACTGAGTGGGACCCACCCTGCTGTCTGGAGCTGCAAGTTCTGAGGGGACCGCCAGGCTCACTCATTCATAGGCAGAGTGAGCTGCCTCGGCCTAACCCCCAGGAGTGCAATTTAAAGTTATGCCTTAGCAAAATGACAAATTACATGTCATGGGCCTTTTGGTCATTCATGAGTATTCAAAATCACCAGAGCTAACTTATCATCTGCTCTGAAAACCACATTTATCTTGTGGCCTTACAGTGTCAGCACTGTTTTTCCACTCTTCATAGCAGTGTTTGTCGTGAGCAAGCCAGAGCCTTCCCTCTGACGTGCTGTACATCACACAGCATGTAGCTGAGACCTGTCTTCTTCTGCTTACCACTGTAAATAAACAGGCCTTTATAAAAAGCGATTGCACATCCACTCAATTATTAGCATAGGGGAGAACTAAGAAGATGTTTACTTGCACTTTAGTTCATTTCTTTTGTTTGTAGTGCACTTACAGTTTGTCAGTTGGTAATCGAAGTTGAAAAAGCTAGAGGTAATCTCTTTTTGGAGAGGAATAAGAAAAATTCAGTATCTATAAAGAAATACCTCAATAACTGTGAAACTCCCCTTGCCTTGTCTTAGCAAGAATTTCATTATTATTGCATTATTCCTGGGAGATAACATACCTATAATTTTAATACCAGAACTTTTACTTGTGTCATCTTTTAAAGAAACTAACATGTTGCCACCGTTGTCAGATGAGTTGCTGTACACCTCAGCTCTATACACAAAAATGTGTAACTGTACCCAGTTCATACATTAAGATCCAGAAAGATCTAACGAAAAGTATTGTTTGGCAGCCTGACTTGGTCCAGATTCAAAGGTAAGTTTTAAAAAGCTCTAAGAGGAAATTGAGGTATTTGTGATGCATAGGAATTCCATTGAGAATAAAATTTACTATTATAATTCCTTCATTACTCAATGTTACTGAAAATACTCGAACGAAAGTAACTTGATTTGTCTACCCAATTTTACGCATTGATTTACATTTGCTTTCAGCAATTGACAGTAATGTTTTATAAATGAATCATTTCTGCAAGTGACGTTGCAATAAATGTTAGCTTTCCCCTTATAATGACATTTGTCCTTTTCTTCTTTGCCATGGGTTTTGATTTTTTCCCCTATTATTGTCTCTTTGGGGGTTTTATTTTTAAGAGATTGCATGCCACCAGAATCTGAACAACAATAACAAAAACCTAGTACCTTCTGGAAGTAGAATTTACTCTTTTGCCGTTGGCAG
Seq C2 exon
GCAAATACGCCATGCGAGACCTGGTCAACCGGCTCCCCGGCGGCAATGGCCCCAGTGTCTTGTCTGATGAGACCATGGCAGCCATCTGCTGTGCTCTGCACGAGGTCACCAGCAAAAACATGGAGAACGCAAAAGCCCTGGCCGACTCAGGAGGCATAGAGAAGCTGGTGAACATAACCAAAGGCAGGGGCGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283:ENST00000389757:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.021
Domain overlap (PFAM):
C1:
PF0051418=Arm=WD(100=74.5)
A:
NA
C2:
NO
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains