Special

HsaINT1027362 @ hg38

Intron Retention

Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45435900-45439634:-
Coord C1 exon
chr17:45439477-45439634
Coord A exon
chr17:45437970-45439476
Coord C2 exon
chr17:45435900-45437969
Length
1507 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGC
5' ss Score
9.37
3' ss Seq
GCCTACTGCTCTCTCCCCAGGTG
3' ss Score
12.23
Exon sequences
Seq C1 exon
ATCGCAGACGGGGTGTATGAAGGATTCCTCAAGGCCCTGATTGAATTTGCCTCCCAGCATGTCTACCACTGCGACCTGTGCACCCAGCGCGGCTTCATCTGCCAGATCTGCCAGCACCACGACATCATCTTCCCCTTTGAGTTTGACACCACAGTCAG
Seq A exon
GTATGCGGGACACCCAGCCAGCCGCCTTCCAGCCCCACCCTTCCCCACACCCACAGCCTGGCCCAAGCACGCAGGGCAGCAGGCTTCGCTCTGTGGGCAGGAACTTATTGAACATCCACTTTGTGCTGTGCCAAGGGGTGGTGCAGTTGTTGGGGCAGCCCATGCTCTGGGCAGTCATGGCCAGCTCCAGTCCAGCTCAGGGGACAAGACAAGCTTTCCCAGGACTCCTCTGCCTCTATGGAACCATCTCTCTTCCTAAAGAAGAGGTGGCTGCCGGCTCTCTGAGTGGAGCCTCCTGGCGCCTCAGTGTATGCATGGGTTGAGGAGGGTTGTATGAGTTACCACCCTGCACTGTTGGCATGAGACCAGGCACAAAGTGGCACCTGGTGGGTGGTACCTGCCACTGCCACTGTGTCTGTTGCTGAAATGATCACTCTTGTTCCCAGTTATTGCTCATTATCCGCAACCTCTCAATGGAAAAATTTGTCCAGACCTTCCTGCAACCCATGTGGGAGCAGAAAACTGAACTGGGAACATTAGTTCTTTTTCTGTCGGTGTCCACTGGCCGGGATGCAGCCCTGAATGGGCCTGGGGCTGAGTTTTTAAAATTATACCATCTTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCACAACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAACACAAAAGTAAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAATTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGAAAAATAAATAAATAAAGTAAGTAAAAAAAATTTTTTTTTTCTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAGTCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGGCTACAGGCACACACCGCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGACCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACTGCGCCTGGCCGTAAATATTTTTTAAATATAGGCAAGAGATCTTTAATGAATCTCAAGCAGCATTTATAAAAAATGCAATAGGACAGAGAATATCAGTGTGCATTGTGTGACGTATGGGTAAGCACTGTTTCAAGACTCTCCTGTTCCAGAACGGAGAGGCACGGTGTGCGTGCATGGGTTACACAGTACATCACAGCCGTATCGTGGGTTCTGGTCAAAAGGGCTGGCCAGCGTGGCCACAGGGCAACCTCCAGCCCAGCCGGCACCAGCAGGCCTACTGCTCTCTCCCCAG
Seq C2 exon
GTGTGCCGAGTGCAAGACCGTCTTCCACCAGAGCTGCCAGGCTGTGGTGAAGAAGGGCTGCCCCCGCTGTGCCCGCCGGCGCAAGTACCAGGAACAGAACATTTTCGCCTGATGCCCATCTGCTGACCCCGCTCTGAAAGCCGGGGGTGAGTGTGGCTCAGCCATCCCGGCTGGGTTTGCCATCAGCCCAGGATACTCACCGTGTCACAGCTGTGTCCCCTTGTCAGGAAGACCCTCAGATGTGGCCAGAGCACCGGCCTCCCAGAGAAAGCCCAGGAAGTCCCCGTGGTGTCCCCTGGCCCTCCCCCCACCCCTCTGCTGCAGGAGGCGTGGCCACCACCAGATGCTCCCTGTCTGGGGCAGGCAGGGCCGTTTACTCACCAGGCCCTGGCTCACCAGCGTCCCGGCGCCTCCGTTAGGGCTGCCCAAACACTGTGGAAAGGGGACTTGGGGAGCATTTTCAATTCCACATTCCTGATTAAAAGGTCTAGTTTTTTAAGGTGGGTTTTTCCCATTCATATTTCAACAGAAAGTATTTTTTTATTCTTGACCCTACGTGAGTCACCCATGAAATCCAGACATTCTCACCCCCAGCGGATGCACAGGAGCCACTCAGGCCTGGCTTAGAGGTAGCGGGTGGCTGGTGGGCAGGCCACTGCTGGGACAGGGTCTATGGGCCCACCCAGTGCCTTTCCTTGGCCCTCACTGCCAGTGCCAAACCGCCCCTCAGCAGGGCAGGGCCAGTCCTGGCGACCCCGGTTCCTCTGTGTCCTCTTTACTCCCCACCCCAGTGCGTCTCGCCTGCTGAGCCCACCGCTTTCTCAGCGTCAGAGCCCCTAGCTCTTCTCTAGCCTGGGGCCTTGGCCCCATTAGGAGAAGGAGAAATGACTGGAAACCAGCACTGTCAGCACTTTGAGCCCTCCTCGGTTTATGGAGGGTCGCCGTCTTGCCCACCCCCGATCCCCGTGCGCTCCTCACCCCTCTACAGACAGGGGCGCTGCTGCAGATGCTCCAGGCCCACCTTGGTGGGTGCCCGGGGTCACACTCTCTGCCTGACTGACCCCTGCCAGGGCACAGATAGGCAGGACCCCAGAGAGGGCAGGCAGCCACGCCCTGCACTGTGGAGAAGTGACCTGGTCCTAAGCTGTGCAGGGCGTGCGGGGGAACTGCCCTGTGGATGCAGCCACCACCTCACAAAGCCATGAATTCCCAAAGCATCACTGAACTTGCCCAGCCGGGACACTGGAGACTGAAGAAGTTCCCCGGAGCAGGACTGCCTTTGAAGGGGCCTTGGGGCTGGGGTGGGAGTCTGGAATTGTTTTCAAAGTGATGGTCAGACCCTCCAGGCTTCGGGGAAATGTGGGTTTGCTGGTCTCTCTGTCGCCTTCCCCCACCTCTCCTGGACCTAGCAGGCCCTCAGTCCTAGCTGTCTTACCTGCGCTCAGCTTGGAGTCAGGCCTCAGGTGGAGAGCCGCATGTCACTGTCAGAGATGAGCCCACCCCCACCCTTCCCTGGGGGCGATTAGCTGCTGAGTCACCCACCCAGCCTTGGAGCTGGATGCCTGTGCAGCAGAACAGAGGCAACGGTGGCAGGCAGGTGGAGGCTGCGCACAGCTTCTCCCGGTCATGGCACACACCTGTGCCCAGACGCCAATGCCTCCTAAGCCAGGAGCTGGGTTATGCACCGCCATGGCCCACATTAACGCTCCACCACAAGCCCAGCCTAGTCAGAGCCCTCATTGCCCCATCCCTGAGTGGGCAGGAGCCTGGCCTGGGGAGGGCTTGGGCCTGTGAGGATTCTCCCCGAAGGTGCCCTCGGAGGCAGCAGGTTTGAGGCCCTGGGGGGCCCGTTCCCCAGAAGCTGCCAGTGCTTTCAGATGCATTGACTCTTCCCGCCTCCCCTCCCTCAGAAAGGTAGTGCCCACACTATTTTTAAAATGTTATTTTATGCAATACACTGTTCCTAGTGAGCAGGGCTCTGGCCCTGAGGAGTCTTTGCAATGTATTGAAGGAATTGCTGCCGTGTGAGTTTTGAATGATTTTGCAGTAAAGACCTGATCTTTCTCATCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190:ENST00000430334:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF139011=DUF4206=PD(0.1=0.0),PF139011=DUF4206=FE(50.7=100),PF0062824=PHD=PU(42.6=57.1),PF098454=DUF2072=PU(5.6=5.7)
A:
NA
C2:
PF139011=DUF4206=PD(14.6=78.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGATTCCTCAAGGCCCTGA
R:
TGACACGGTGAGTATCCTGGG
Band lengths:
346-1853
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains