Special

HsaINT1027170 @ hg38

Intron Retention

Gene
Description
plakophilin 4 [Source:HGNC Symbol;Acc:HGNC:9026]
Coordinates
chr2:158634070-158640759:+
Coord C1 exon
chr2:158634070-158634289
Coord A exon
chr2:158634290-158640626
Coord C2 exon
chr2:158640627-158640759
Length
6337 bp
Sequences
Splice sites
5' ss Seq
CAGGCGAGT
5' ss Score
2.92
3' ss Seq
GCCATGTTTTTCTCATGTAGGGA
3' ss Score
9.05
Exon sequences
Seq C1 exon
TAGGTATTGGAAATCTACAAAGGACATCCAGCCAACGAAGTACCCTTACATACCAAAGAAATAATTATGCTCTGAACACAACAGCTACCTACGCGGAGCCCTACAGGCCTATACAATACCGAGTGCAAGAGTGCAATTATAACAGGCTTCAGCATGCAGTGCCGGCTGATGATGGCACCACAAGATCCCCATCAATAGACAGCATTCAGAAGGACCCCAG
Seq A exon
GCGAGTACCAGTTAGGAGTCTCTAGAAGGCTACAGTATTGCAGGAGTCAGCCAGTTCCTCCATTTTGACTTTTTTAAGTTGCTAAGTCTATTATACTATCATTATACTATCATTAATTCCATATATATTAATACTTCCAGTTGTATTCCAGCTATATAGGTCATTGAGGTTAATTTCATTTTAAAGATAGATTCCTTCTTTCCATCCTTTCATAATAAGTTAGAGAAGGCACAGATCCATGGGAATATCTGCAGCATTCATCACTGAAATATTTCATCAAGACAACAACCTGGAATAGCCTCTTGGAATTAAACAAGGCTTTGAAAGATCAATTTACCCTTTGCCCTTATCCTGACCGACTTCTTCGATAACAGCTTCAAAAAATGGATTTGGTTATTACAAACTAGAGAAAGACCCGTGTTACATGTTTTCAATCATAGTGGTCAACAATATATAACGCTGTTATTAACCAGGTCCTTTGAAAACAATTTGTGACATTTAGGAGAAGACAGTCTTTATAAGAAATTCTATCTAATAAGCAAAAAGTGTTTGGCAAATCATAGACGTTTCCTCCTTCTGATTTTATTTGGCCCTGTAGACAGCATTTTTATTAAGATAATATGAGTCATTTAATACTTGATTGATTTTGAAAAACTGACCTTGTCCTTAAAGCCATTTAAAATATTCAGGAAATAAAGATATTTTGAAACTAAAAGAATTTTCATTTCTGAAAGAGTGAAATTGTTGCTAAATTTTAAGCGCTTTAGTGTTATTTTAAGGCATGTATGCAAGATTTCATTCACTCTTCGCCCACAAATAGTTGCTTCACTGGAAAATTGTTATAATTATCAATTCATTTTTAGCAGCCTACCAACTTGTTTTAATGAATGTGAATTAAAATGATGAGTGAGGTTTTGGTCATTAAAACAAAATGACTAAAGATACCTTAAAGTTGAGTGGGAAATCCACTGCTTCACTAAAACCGCTTCACTTATTCACTTCTATTCCTGAAATTCTTTAAGCTATATAAATGCATTTGGTTCTGCTACTCCTGGTTTGCCACCTTTTTGTCATTTTTAAGGAGTTTCAAAAATAACTTGTCTAATAACACCTACAGCTTGTCAGAGATACTCTTACTGATTTTGTTTTTTCAAATCCTCAAAATGACAAAGACCTAAGGCACCCAAATAGATGCAGAAATTCCCAAAAGAGTTTTGAATTGTAGGTAATTTAGACCATCCCTTGGCTGGACCTGAAGAGAAAATAATAGCTACCTAGAAAGGCAGTGAAATGTGATGAGAACTTTGAGTTTAATATGTGTCCCTGAAGACTTCAGTTTTGACCTCTAATGTGAGTTGATTCTCTATAAACAAGGACTTCATGTATGATAATATACCTCAGCTATTCATAGTGTGATAATTTCATAGTCTAATGCATAAAACTGATGGCTGTCTTTGATTATGTGAAACTTTACTGATAATGCATTTCGTAAGGTGAATAAGTGATTATTTGGTAGGTGCATTTATTCTAGCTAAAACTGGAATTCAGGTGACTTTGAAGTTTGAATATTTAAACCAAAATTAAAAGCTCATGACAACTGTTAATTTTTAGTTTTGAAAATAGCAATTTGAAGTAATTCACTACAAGTTTTATTCACTTGTAAGCCTTTATTATTAATGCTACATTACAGTTGGCCTGAAAAATTCTCTTTAAGACTGAGGAAGTTATTGATCTTTACTGTATAAAAGGAAATCTGTGAGTTTTTTTATAGTTGTCTACTTGGAAACCATATTTATTAATAACATCAATGATGCTTCTGAAAGGAGTAACGTAAAAGACTTCCTGTGTATTCACGTTTCCATCTCAACTCATTTCCCTTTGGCCTAAAGAACTTCCTTTAGCCTTTCTTGTCTTGCATTTCTGCTTGTAACAAATTCTCTCAGCTTTAGTTTATCTGAAAATATTTCACTTGTTTTTTTAAAGGATTTTTTTTTTGCTAGATATATAATTCAGGATTTACAGGTGTGCATTTTTTTCTTTCTGTATTTTAAAAGATGTCATTCATTGTCTTCAGATCTCCGTTGTTTCTGTTGATAAGGCAGACATCATGTGCATTCTTCTCATTATGTAATGTGTCTTTTCTTTGGCTGCTTTTCAGATTTTTCTCTAGCTTTCAGCTGTTTTATTCTGGTGAGCCTAAGTATAATTTTCTTTGCATTTAACCTGCTTAGGGTTCACTGAGATTCTTGGAATGTAGGTTGATGTTTTTGTCAAAATTGGGAAATTTTCAGCCATTAATTCTTTAAGTTTTTTTTTCTGCCCCAAACTCTCTTTTCTCCTTCTAGGACTTGAATTAAACACATAGGATCACTTTATTATTTTGCAGATTACTGAATCTGTCTTCATTTTTTAAATCTTTTTTCCCTGTATTCTTGTAATCAGAAATTTTTATTAATGCCTTCAAATTTAGTGTTCTTTGTCCTATAGACTACAATCTATTGTGAAGCCCTTGCAAATTTGTTTTTATTTCCAATCCTTGAATTTGGTTCCTTTTATATATTCCATGTTCCTATGAGATTCTCCATCTCTTCACTCCTTATATACATCTTTTTCTTTAAGTCTTTGACACATTTATCATAACCATTTAAAATATTTCCTCTGATAAGTTCAACATCTGGGGTGAGTCTGGGTCTGTTTCTATTGGTTGCCTTTTTTACATATTTATAAGTCATATGTTTCTGTTTCTTCTCATGTTTAGTCATTTTAAATTATATACTGACGGTTGTAGATGATACATTATAGGGAATCTGGATTAAGTTGTCTCCTGTTAGGGTGCTGAGTTTTGTTGTGGCAGAGAACTAAATTACTGGCAGATCCTTTCAATCCCATCAAGATTGGTTTTGTTCATTGTTAGGTCTAGTTCATATTTCTTTTAAGCCTTAGAACATGATCCTTACCCCTAAAACTTGGCCTTTGTGGAGTCTTGACTAAATTCCCAAGGTGTTCAGTGAGGTCTGCACTCTGACTAGGCTGGGAGTCCACATCACGTGGTACCTGTTCAGCCTTGAGCCGTGCAGCAGCCACTTTCCACCAGACCTGTGCATGTGCCCTACAGCTCAGGGTACAACTAAGGACTTCGGATAGTCCACACGCAAACCCGGAGAATCACCTCTGCTTAGCTCCCTTGTCTCCAGTACTCTGCCTTGCACATTCTAACCACTTTGGCACCCACAAATTCCACTCGCTCCCTGCCTCAGCTCACTAAATCCCTCACATACTACTTGGCCTCAGCTTCCTGTGTCTTGGTCCAGAAAGTGCCCTCAGGCAGAAAGCCAAGTAAACATGGGACTCGTGGATGTTTCCCTCCTCTCAAGGATTATATTCTTGTGTTGCCTGTTTTCGAGGGTCTAAAAACAGTTTTCTCCTACATTTAGCTAAATTCACTTTTATAATTGTTTATGGTGGGAGGGCGAAATCCAGTACGAGTTACTCTATCATGGCTGGAAACAGAAGTCTGGGCTTAGGTTATACTGAAGCAAATCCTGGCAGGCATTGATGCCATCCAGCCAGCCTACAAATTGATAGCAGTTTTTCGAGGGTAAATTTCTACTGAATTTTCATCGAGGTTGGAGTTGAAGCCAAGCAAGCCTAATTGCCCAGCTCTGGCAGGAGCCCACCCTCGGGGCTGTCTGGCCCTCATGGCACCGGGGATGTCAGGAAATCTTGACCCTCAGTGTCCCATTTAAAGAGGACAAAAATGTGTATTTGTAATGATTGTGAGTCATCAAAGAAAGAGTAAATCACACTCCTTGCACTCTGTTAATTACAACAGAGATTTACATAATAGGCTTTAGACAGATTTTCTGAGAAACGATTGATAACAGTTTCAATATATAAAAGGAAAACTATTTGTTACCAGGAATTCATCTATTTAGAATAGCTCATTTTTTAGGGATGATGAATATTAATAAAACATCTGTGTCAGAAGTAAAAGTATATAAAATATTTTAGTATTCATCATCATATTTAATCATCACAACCAACCAGTGAAGATTGAAATATTAGTTTCATTGATCTTGTTTTACAGTTGAGGAAACTGAAGCTCCAAATAATTAATTGGTTTTCAAAATCACACAGAAATGGAAGGACCCAAGACTGAAACCCAGGCAATCTAACTCCATATTCTGTGCTTTTTCTGCTGTTATCCTGCCTCCCTTGGCATTTGCTGTATTCTTAATGGCTGTTAGTGACATCACCCTCCAGCCTGTTCACCAAGCCAGAAACTCCATCTCACACCTGACTTCAGTTTTTAGATCATCTGGCTGCTGTATAAAGAATGGATTGGGGGTGCAGGTGGGGTGAGGGGATAATATTAGAAGCAGAGAGAACATGTAGGAAACTGTTAGACTCTTCTGGGCAAAATGGAGAAAATGAATGGATTTGGTATATGTTAAATATTTTGTAGATAGTCAACAGAACTTGCTGATGGATTCCATGAGGGAAGATGAAGAAAAGAGAGGAATCAAAGAGAAGTCTATTTCGTTTCAAGCAGATGTATAGATTCCTGTGCAGATAGTGGGTAATCTGCATGACACCCATCTTTTTGTATTCTAGGGCATTCTTTCCTTGGCCACTAGAGTTATCGTCTGTATAAATGTGACTATGTCACATCCTCTTACTCTCCTGCTTCACAGCCTTCATTCCTTATGTGTAGGCACACATATAGACCACCTGGGTTTCACTAACCTCTATCACTAATTACTAATCCTGAGTTCCTTATCTGTATCTAATGTTATTTTAATAGTGCTTACCTCATGAGGCAACAGTAAAGGTAAATGAGATAATGAAGGTAAAGTTCTTGGCACAAAGCCTGATATAAGTAAACTCAATAAAGGATAACTCCTGTTATTGGTATTAAGACTAAACTTTTTAGTTTGGCAGAGAAGACCCTGTAAATAGAATCGTATCTTACCAATATTTGTATCTCCAGCACCATAGCACAGTAAGAATTCACTAACTGAACGCATGAGGGGTGTGTGTGTGTGTGTGTGTGCGTGCGTGTGTGTTTGCGTGTGTGCACACAGGTGTGGGATGACATGCCCCTTTGCAGGGGTCTAACAAGTTAATACATGGAGACTTCCCAGATCAAGAGAGACTCTAAGGCTTCAAAAACCAGGCAGGAGAATTATCACTCGGTCATTAATTTTAAAGATAATTTTAAAGGTTTACTCAGTATGAATTCTTTTTTTTAATAAACAACTAACTTTATCCTGTAATCAGAGTCTGCATATTTGTTGTTCTGTGAACCATTTTCTAACAATCTGCTTTTCACATAATATAAGCACAAACTCACATTTAACAAGAATTCCAAACAGTACACCAATCAGATGACATTAGAAAATCCTGAAAATGGATGTTAGCTGAAAAAAAGGAAAGTATAAAAGTATATATACATAGCATGATTATGTATTCATTGTTCAAAAAAATGGTATAGCATAGTGTTGGAGGGCACAGACTCTGAAGGCAGGGTACCGCTTCGCAGTTTACAGCCACGTGGCCAGGCGCATGGCCTTTCTGCCTCAACTTCCGTTTCTCTAAGGTTGCCGTAAGAATAAATTAATAAATATATATAAAATGCCTGGAATAGTGCCTGACACAGGATAGGGGTTTATGAAATATTAACTACTATTTAATAATAACCCAGTTTTATGGAAAAAATTCCAAACTCACACATGTGTGCACATTTGCACACATATATAGAAAAACAGGAAATGTCAGCAGTAATCCTGAATATAGGATGACTGGTCAAATACTTGTTTATAGTTTTCTGTGTTTCTGTGTTATACTCAAGAGCAACCATAAACATTGTTTCTTAAAAATCCTCAGGCCCACAATGTTTGTGATTTCTAGGCTGACGCCAGCCCTGTCTGTTCCCACCAGCCCTTCCTCTCCCTTCAGGCATGACATCTCACTTCGCTACAGTGCACGTGTTTACCTGAGCCTTGCACCTGCAGATTTCTTACATAGGTAGAAAGACATAAAATTAGAATCAGGAGGAGGAACACGAGAGTGGAAGTTACTTATATTAAGAATTTTCTTTGTTCCCCTGAATCTCTTTCTGTGCATCTGTGCGTCATGATTTCCTTAAGATCATAAGCATCTGGGCCTCTGCATATGTTCATCAGGGGGAAAAATTATTTAGGTATGTATTTTTTAGGATTTTTGTAACTTCCCATTTTTGTCTCAGCTGAGCTTTTTTTCCTTATACCAAGTGTTTTTTTCAGTGTATTTTTACAACATGGGCCTTCCTTTCTGAAGCCATGTTTTTCTCATGTAG
Seq C2 exon
GGAGTTTGCCTGGCGTGATCCTGAGTTGCCTGAGGTCATTCACATGCTTCAGCACCAGTTCCCATCTGTTCAGGCAAATGCAGCGGCCTACCTGCAGCACCTGTGCTTTGGTGACAACAAAGTGAAGATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144283:ENST00000389757:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.577 A=NA C2=0.022
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0051418=Arm=PU(14.6=13.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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