Special

HsaINT1027366 @ hg38

Intron Retention

Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45458169-45468593:-
Coord C1 exon
chr17:45468209-45468593
Coord A exon
chr17:45458440-45468208
Coord C2 exon
chr17:45458169-45458439
Length
9769 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
3' ss Seq
GTTGTCTTCTTTCCCAACAGAAA
3' ss Score
11.09
Exon sequences
Seq C1 exon
GGTATTGTTGGAATTCAGCAAAGCCCAGGTAAACTCTGTGCCAACCAACGGACTGAGCCAAGAAACAGAGATCCCCACACCACAGGCCTCGCTCTCCCTCCATGGCCTCAACACCAGCACATACCTGCACTGTGAGGCACCTGCAGAGCCCCTTCCTGCCCAGGCAGCCTCTGGAACTCAAGATGGTGTCCACGTGCAGGAGCCGCGTCCCCAGGCGCCCAGCCCCCTGGACTTACAGCAGCCTGTAGAGAGCACCTCAGGCCAGCAGCCTTCTAGTACTGTCAGCGAGACAGCCAGAGAAGTGGGCCAAGGGAATGGCCTGCAGAAGGCCCAGGCTCATGACGGAGCTGGTCTGAAGCTGGTAGTTTCCTCACCCACCAGTCCG
Seq A exon
GTGAGTGGTGCAAGCCGTTCAGGGGGCAGTCTTGGGAAATGTCAGCTGACACAGGGTTTCCCCAGCTAGTGACCCTGAGTGGTCTCTGCCTTTTCCCTGTTAGCCTTCCTCTCCCTGCATAGTGATAGTGTTAATAGCATCATGATGATGGGGCTCATGTTTCTTGGCATGTGAGCTGTAGATATAAGCCCGGCTGTTTCTTGGCATGTGAGCTGTAGATATAAGCCCGGCACTGTGCTGATCACTTCCCGTGTGTATCTCCTGTCATTTTCACGTCACTTTGTGAAGGTTGTTCTTGTCTGACCGCAGTCTCAGCTCTTTAACCACTACCACTCACCAGCATAAGGCCTTGGGCAAGTCACTTCAGCTCTCTGAACCTTCATTTCCTCCTTAGTACTTGTTATTATTAAATTAATATTTTTTGATTTTTGGTTTTTGGTATTTTTTTCAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCTGCTCACTGCCACCTTCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCTCCATGTCTGGCTAAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGATCTTCTTGCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCATGAGCTGGTGCACTCAGCCTATTAAATTAATGTTTTTAGAAAATACTAGGCCTTGAGCATACTCACTTTGCAACATGACCCAGGTTTTAGAGCCGTGCTGTCCAATATGGCAGCTACAAGCCACGTGTGGCTGTTGAACACTTAAAATGTGGCAAGTCCAAATGGAGATGTGCCATGTGAAATAAGCGCTGGATTTCAATAACTTAGTATGATAAAAGAATAGAAAATCTCATTTTTATGGATTACAAGTTAAAATGAAAATATTTGGGGGCTGGGTGTGGTGGCTCACACCTGTAACCCCAGCGCTTTGGGAGACCAAGAGGGAGGACTGCTTGAGCCCAGGAGTTGGAGACCAACCTGGGTAACAAAGTGAGACCCCATCTGTACAAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGTGGCTGTACATATAGCATGAGGCTGTAGTTAATTCTTTTCCATTGTTCTGCAGTATTCCATTGTAAAAATATATTGCAACCTATTACCCATTCTCCTGTTAATGGACATTTGGGTTGTTTCCAGGTTTTGACTATTATGAAGAAAGCTGTAGTGAACATTCTCATACATGCTTTTGGAGAACCTCGGTGCTTATTTCTGTGGGTATATATACCTGGGAATGGAATTGCTAGGTCCTTGGGTGGCTTATGTTTACCTTTAATAGATACCACCACCAAACAGTTTTCTAAAGTGTTTGTGCTAATTTATACTCATATTGGCAACAAATGAGCATTCTAGTTGCTCTTTATCCTGGCCAATGGTGTTACCAATCTTTTTAATTTTAGCCACTCTGGTAGATGTGTAGTGGTTTTAATTTTCATATCCTTGATGACTAAATGATGATACCTTTTCATTTGCTTATTGGCCAGTCAATCCTCTTTTATAGAATGTCTGTCCAAGTTGTCATTCCGGTCTTAAATTGAGTTGTATGTGTATGTGTTGATTTGTAGGAACTCTTTATATATTACAGATATAAGTCTTTTATTGGACAAAAATAGTATATTTATCAAGTATCTTTTTCTAGTCTATAAGGCTTGACTTTTAAACCTCCTAATAGTATTTTTATTGAACAGAGGTTCTTTTAATGATGTGCAGTTTATCAGTCTTTTTGTTTATGGTTTGCTTGGTTTTTGTCCCATTTAAGAGATATTCATCTCCCCCAAGGATCTGAAGGTATTTGCCTATATTATCTTCTAGAAGCTTTAGTGATTTATCTTTCAAAATTAGGTTTATGATCTTTCTGGGATTAATTTTTGTGTGTGGTGTTAGAAGTCAAACCTCATATTTTTCCATATGGATATCTGATTGGCCTCACTGTTTCTTGAATATGACCATGTAAATCACAAAACTGTCAGTGTGGGTCAGAGTCTTCGAATTTGCTATCCTGAAGATGCTTCAGTACATCCTGAAGATTTGCTTCCTGAAAATGAATGCTCTAGGACCCTGAAGGTTGTGACTGTGCACCTGCCAACTCAAGCTGAAGGCTGAAGAGGAAAGCTCTGCAGCCCCTTCCTCAAGCTGGAGGCAGAGTGACGTCTGCTGGGGATGCAGGCTGTGCGCCCCACAGGACTCCAGAGTGGCACTAAGCATGTTGAGTTCACTCCTGCCCATGGTCTAGCTTCTGCTTTGCAGGCTCAGGCATCTTATCTTGCCAGGGCCTCAAAGCTGGTGGGACAGAATAGCATCTTTGCTCACTAAGCTCTGACCCACCGGCCTCCTTGCAGCTCTATAGTCCAAGCGAACTCCTTCCAACATCAGGCTTCTTTTAAAAAAAAAAATTTTTTTGAGGCAGAGTCTCACTCTGTCACCCAGGCTGAAGTACAGTGGTGCAATCTCAGCTCACTGAAACCTCCGCCTCCTAAGTTCAACTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCTACCACCATGCCCAGCTAATTTTTGTATTTTTACAAAATTATGGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCAGCCTCAGGGTTTTACATTTGCTGTTCCTTCTTTCCCGACTCACTTCATTGTTGTCTCAGCCTTCCCTGACCGGACCCCCGTAGCTCAAAAGCACCATCCCCAGTGACTCTCTGTCCCATTCATCTGCTTGACTTTGCTTATAACACTCATCACTATGTGCAATTACAGTATATTATCTCTTTGTCTCCTTGTTTATTTTCTGTCTTCCTTACTAGAATATTAGCTCTATGATACAGAGCACCAGGCCTGTTCACTTCTGTATTGTCAGCACCAAGCACTGTACCTGGGAGAAAGTAGGCATGGATGAATAGTTCTTGAACTCCCAAGAGACTCTTGAGATGCCAATTCCTAAGTTTATTTTGTTCCCCCATCCTAGCTATAAGGCTGTTTGGAATGGTTCTTTTTCTTGGTATCTCCAGCAAGTACCTGGCCCAGAATCATACAAGATGTGTGAATAAATCATGACCATCCCAATGTCTTTAATATAAAGTAACAAAGATAAGTCAAGGGGACTGGAAGGAAGGAGACAAATGTGAAACTTAAGATTATGGACGTTCAGGCGAGGCGTGATAGCTCACGCCTCTAATCCTAGCAATTTGGGAGGCCAAAGTGGGTCATCGAAGTGTACCATCGAGTGGACAGGGTGGTCAGGTTGGTGTGATCATGGCAGGCTCTGCCTCTGTGCCAGCTACAGGGGACTCTGATTGCTGGAAGGTTGCTTAGGGAATGTGACATCTAAGCGCTTGGTGCTGAATCCGATGTGAGAATCTCGGATCCTGCCCCCGTCCTGTGTCTGTCTCACAGGGAAGTTGTGGATTCATTCACTGCTTATTCAGTAGGTAGTCACCAGGTGCCACTGAATAGCCTGCCAGCTCATGTGGGCCTGCTGGGCTCCTGGCCTGTGGACAGTGCCAGGCTGTGCCCTGCATGTCTGCCCCTGTGGTCCTCATCTTTCTGTACTTCTATCAGTTAGCCACGTGCTTTTTATTTGATGTTATTTTGGGGGAGATGTTGGGGTCGCTGTCAAGTTTTATAGTGTAGAGACCCATTCAGTCTTTCTTTTAAAAACATTTATTTTTAATTCATTGAACCCAAAGCACCTACTATAAGCCAAGCACCATGTTAGGTCCTAGGGGTAGAGTGATACAACAGGACAGACAAAGGCCCTTTGGGGACAGACATTAAATTAGACAAATGATTATCCACATCATAATTACACTTGTGCTAAGCACTGGGAAGGAGAGGTGCAGGGAGTAGGGGCCTCTCAAGGGTGATGCATGTCTGGGATCTGGGGGTTGTGAGTTCGTTTCAGTTTAACTCCCAAAAGGCAGTGTGAGTTCTAGGACTTGCTCTTAATCACTGCCCCCATGGACCACCTGCCCATGGTATGTGGTTCCCCTTCCACAGTTATGAGTACAGGCAGTTCCTTTGCCTGGCATAATGAGGACTGGCTGGACAAAGTCTCATCCTTCTGAAAGTGTCCCAGAGACCTTCGTCTCACTCCTCAGCCACACTCCTCTTGGGGATTCAGCTGTTGTATATGGTGTCATGAGCCCTTTAGTAACGCAAGGTGGCATTTCTCTGTCTTGGGTCGCTGGTGGCAGTTGCAGCTCTGGTATAGATCCTTCGTCGATGATGGTTTCTCTCCACTGTTAAAGGGCGGGGTGCTGGCCAGACATGGACCCTGAGTGAGCAGGTTGTCGGAAGGTGGTGGGAAAAAAGGAGAGAAGGGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAAAATTAGCCGGGCATGATGGCGTGAGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAAACTGGGAGGCAAATGTTGCAGTGAGCCGAGATCACACCACTGTGATCCAGCCTGGGCAACAGAGTAAGACTCCATCTCTAAAAGAAAAAAAGGAGAGAAGAGAGAAACAGTGGTGTTCATGCATGCACTCTCTCTCACACCCTCTCTCTGCTCCCCACCTGCCTGGGGCCAGGGGCACACAGCCTCAGAGCTCTGTCCAGGCCCATGTGCAGAAGCTCCGAGGAACCTGCATTTCCACTGTTTTTTCCCTGTTGCTTAAGAGAGTAAAAGATGTTCCCTAGTTTCATTTCCTGGCAGCTGTGCTCAATGGACTGTGTCTGAACATTTCCTAGTAGTCTTTTTCCTCAAAGGAGAGAGAAGTCCTCCCCAGTGAATGTCCATATACTTTTTTTTTTTTTTTTTTGACACAGACTCTTGTGCTGTTGCCCAGGTGGGAGTGCAATAGCTCCATCCATCTCGGCTCACTGCAACCTCTGCCTCCAAGGCTCAAGCAATTCTTGTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGGCCTCAAGCAATTTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGATCCATCATGCCCATTCTGAATGTCCATAATCTTAAAATTTACATTTGTCTCCTTCCTTCCAGTCCACTTGACCCACCTTTGTTATTTTATGTTAAAGACATTGTGATGGTCATGATTTATTCCCTCATCTTGTATGACTCGGGCAGGCACTTGCTGGAGATATCAAGAAAACCATTCCAAACAGCCTTATAAATGCTAGAATGAGGGTAAGCACAGAATATTGTGGGATCCCAGTAGGGGCCCTAACCCAGCTAGGGGGTGGGAAGGGGTGGAGGCTGGGGAAGGGTGAGAGAAGCTTCCAGGCAGAGGCGATGGATGTCTCCTGAGCTGAGTCTTCAGGGACAGTGCCCTCTCCCACCAGGCGCTGGAGATCACACAACTTCCCAGGTATATGTGAGGCTGCCAGGACAGCCACATGGTTGCCAGGGAGCTGTTTCTCCCACCCATTTTCCTCAGGGGGGTCCCCCAGTTCTTGATGACCTAGGCAGGCTTTGCTCAGAATCTAGTGTTGTGGATGGTCCCCAGTGGCTGCCCTGACTGACACATCATCTGTCACTGGCAGGGGGGAAGCACCTGCCAATTCTGAAGGCCCCGTGGAGGAGTCTCTGGGGACCTAGTTCTGTGAGCTACCCCTCAAGTTGCCTGAGTCAGAACTTGCCACCCTTGGCTTGAGGAGTCGTGTAGCATCTGAATGGATCCAACTGTCCAAACCAACCCTTCCCTGTTTACAAAGCAGGGAGTGCAGTCTTGATTCAGGGACTGGAAATAGCGATGTCAGGGTGAGGTTAGTGGCACTTAACAAAACAGTGGGGCTGGTCCCACTGCTTGTGTGACTCATTTCCTCTGTGTACACAGCCACTTAGAGTGGCCCAGCCAGCTTCCTTGCCTCTGCCCTTCCATGTTGAGGCACAGAATGCCAGGGAGGACTTGAAATACTGGAGAAAAGGAACCAGAATCCACTCCCACAAGCCCACTCACCCCAGATGCTCCCCGCAACCCCATCTTCCCCAGCCAGTGAGCAGCTTCAGATTCAAAAGAGAACAACGAAGGGAAGGGGCAGGGCCTGGCTGCCTGGGGTTGCAGGGGCCTGCACAGAAGTGGGCGGCAGAGACAGAGGCGGCCAATGAGGACCCTGAGGCCTGCTCGCCAGGACTCCCTCATCTCAAACCCAAAAGCAGGACTGAGAAACCCTACATGCTGGGACAGCTGAATACCCACATGCAAAATAATAACACCCCTTCCTTACACCTTACACAAAAACTAACTCAAAATGGACCAGAAACCTAAATGTAAGAGCTAAAACTATACAGCTCTTGGCAGAAAACACAGAAGTAAATCTGTGATACTGACTTAGGCAATGGTTTTTTAAGATGCAACACCAGAAGCACAAAAACAACAACAAAAATAGATAAACTAGACTTTATCAAAACTAACAACTTATGTGCTCCAGAGGGCACACCATCCGGAAAATGAAAAGACACCTCACAGAATGGGAGAAATTATTTGCAAATCGTAAATCTGATAAGGGTCTCGTATTCAGAATATATAAAGCACCTTACAACTTGAATTAGTCCCTAGGGCCACCATAACAAAGTACCATACACAGGGTGGTTTAAAACAACAGACATTGGCTGGGCGCGGTCGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAACAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCAGGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAACAACAATAACAACAACAACAAAACAAAAAACAAAAACAGACATTGCTGGGCAGGTGGCTCATGCCTGTGACCTCAGCACTTTGGGAGGCAAGGGTGGGCGGATCACTTGAGTCCAGGAGTGCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTTGCTGGGCATGCTGGTGCATGCCTGTAGTCTCAGCTATTCAGTGGGGCTAAAGCAGGAGGATTGCTTGAGCCTGGGCAGTCAAGGCTGCAATGAGCCCTGATTGCGCCACTGTACTCCAGTCTGGGCAAAGAGCGAGACCCTGCCTCAAAACAAAACAAAACAAAATAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAAGTGGGTCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCGACAAGGTTTTGTCTCTACTAGAAATACAAAAATTAGCCGGGCATGGTGGCAAGCATCTGTAACCCCAGCTACTCGGGAGGCCGAGGCAGCAGAATTGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGGGTGACAGAGTGAGGTTCTGTCTCAAAAACAAAACAAAACTGGTATTTATTCTCTGATCGTTCTGGAGGCTCCTTCTGGAGAATCTAAGGAAGAATCTGTTCCCGCCTTTCTCCTGGGTGGCGTTGCAGGTGCTCGTTTGCATTCCTTGGCTTGTAGACATGTCACTCCTGTCTCCCCTCTGCTGTCACACATGTTCTACTGTCATACAAGTTCTTCCTCTGTATCTCTGTCTTCACTTGGTGTTCTCCTCTCTTTGTGTATCTTTTCTCCTCCTCTTATAAGGACATCAGTCATACTGGATGAACAGCCCATTCTACTCCAACATGACCTCATCTTAACTAATTACTTCTGCAAAGACTCTATTTCCAAAAAAGGTCACATTCTGAGGTACTGGGGGGTAGGGTTTCAACATGTCCTTTTGTGGGGGGGTCACAATTCAACCCACAACACAACTCAGCAACAAAAAGACAGCCCCATTTTAAGACAGACAATGGATTTCAGTAGATTCCAATGGATTTGGATAGATTTCCCAAGGAGAGAAATTGGAACCCTCGTACATTGCTGGTGGGAATATAAAATGGTGCGGCCACTTTGGAAAACAGCTTGGTAGTTCCTCAAGAAGGGAAACATAGAGTTACACATGACCCAGCAAGTCTACTCCTAAGTATATACCCAAGACAATGAAACATGTCTACACAAAAACTTGTGTATAAGTGATCATAGCAGCACTATTCATAATTGACAAAAAGTAGAAACAACCCAAATGTCCATCAGCCGAGGAGTGGATAAGCCAAATGTGGTGGATCGAGACAATGGAATATTATTTGGCAATAAAAAGGAATGAACACTTAAACATGCTTATATAACATGGATGCACCTGGAAAACCTCCCACTAAGAGAAAGAAGCAGGCACAAAAGGTCACGTGTCGTATGGTTCCATCTATATGAGATGTCCAGAACAGGCAGGTGTGTAGGGACTGAAAGTAGGTAAGTAGGTGCCTAGAGCTGAGAGTGGCCAGGGGAAATGGGGATGACGGCTAATGGGTACGGGGTTTCCTTTTTGGGTGAGGAAAATTTGCTAAACTTAGATGGTGGTGACGATTGCCCAACTCTGACTAAGCCAAAATGTTTGAATTGGACACTTTATTTATTTATTTTTTTAGAGATGGGGTCTCATTCTGTTGCCTAGGCTGCAACCAGGCTGGAGGGCAGTGGCGTGATCACGGCTCACTGCAGCCTTGACCTCCCTGGCTCAAGCGATTCTCCCGCTTCAGCCTCCTCAGTAGCTGAGACTACAGGTGTGTGCCATCACACCCAGCTAGTTATTTTTTGTAGAGATGGGTTCTCACTGTGTTGCCCAGGTTGGTCTCAAACTCCTGGGCTCAGGTGATCCTCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGGCTGGCCGAATTACATACTTTAAGTGGGTTAATTTTATGATATAAGAGCCATATCTAGATAAAGACTTAAAAAAAAAAAAAACTTCAGGCTGGGCACAGTGACTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGCTCACCTGAAGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGACTGGGGCAGGAGAATCGCTTGAACCCAGGAGTCAGAGGTTGCAGTGAGCCGAGGTTGCGCGATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAACAAAAAAACTTTAAAACAAACAACTGTTGTCTTCTTTCCCAACAG
Seq C2 exon
AAAAACAAGAGCTGGATCTCAGAGGATGACTTCTACCGGCCTTCCCGGGAGCAACCCCTGGAGAGTGCTTCAGACCACCCAATAGCTTCTTACAGGGGGACTCCAGGGTCAAGGCCTGGTCTCCACAGGCATTTTTCTCAAGAACCAAGAAAAAACTGCTCCCTGGGGGCGTTAGACCAAGCGTGTGTACCTTCCCCAGGAAGAAGGCAAGCCCAGGCAGCCCCATCCCAGGGGCATAAGAGCTTCCGGGTGGTACACCGGAGACAGATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190:ENST00000430334:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.961 A=NA C2=0.857
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
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