HsaINT1027368 @ hg38
Intron Retention
Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45450618-45454272:-
Coord C1 exon
chr17:45453355-45454272
Coord A exon
chr17:45450764-45453354
Coord C2 exon
chr17:45450618-45450763
Length
2591 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCCG
5' ss Score
6.46
3' ss Seq
CTCTCCACCCATCTCCCCAGGCT
3' ss Score
8.75
Exon sequences
Seq C1 exon
GACTGTCCAACCCATTCCGGGGTCTCATGAAGCTGGGCACCGTGGAGCGGCGGGGGGCAATGGGCATCTGGAAGGAGCTCTTCTGCGAGCTCTCCCCGCTGGAGTTCCGCCTCTACCTGAGCAACGAGGAGCACACCTGTGTGGAGAACTGCTCGCTGCTTCGCTGTGAGTCTGTGGGGCCAGCCCATAGTGATGGGCGCTTTGAGCTGGTCTTCTCTGGCAAGAAGCTGGCCCTGCGCGCCTCCTCCCAGGACGAAGCTGAGGACTGGCTGGACCGGGTGCGGGAGGCCCTGCAGAAGGTCCGGCCTCAGCAGGAGGATGAGTGGGTGAACGTGCAGTACCCAGACCAGCCTGAGGAACCCCCCGAGGCGCCCCAGGGCTGCCTCTCTCCCTCAGACCTGCTCTCGGAGCCCGCGGCCCTCCAGGGCACACAGTTTGACTGGTCGTCCGCCCAGGTTCCAGAGCCAGATGCCATCAAGGAGTCCCTGCTGTACTTGTACATGGACAGGACCTGGATGCCCTATATATTTTCTCTGTCCTTGGAGGCTCTGAAATGTTTCCGCATCAGGAACAATGAGAAGATGCTGAGTGACAGCCACGGCGTGGAGACCATCCGGGACATCCTGCCAGACACCAGCCTTGGGGGCCCATCCTTCTTCAAAATCATCACGGCCAAGGCTGTCCTGAAGCTGCAGGCCGGAAACGCCGAGGAAGCCGCCCTGTGGAGGGATCTGGTCCGCAAAGTCCTGGCATCCTACTTGGAGACAGCCGAGGAGGCGGTGACCCTGGGCGGGAGCCTGGATGAAAACTGTCAGGAGGTGCTGAAATTTGCCACCCGGGAGAATGGCTTCCTGCTGCAGTACCTGGTGGCTATCCCCATGGAGAAAGGCCTTGACTCCCAAGGCTGCTTCTGCGCAG
Seq A exon
GTGCCGATTTGCTCTGCTGCCACCCCCAGCCTGCCAGCCTCACTCCACCTCCTGCTGGTTCCTGATTTAGGCTCCCCACCCTTCTGCCTCCCCGCAAATGCCCCCATCCTTCCCCTAGGGATGAGGCCACAGATCAGGCTTGCCCTACAGCTTCTGCTCCTCCCCAGCCCCGGCTGGGGCCAGTGCCCTGCTCATAGGCAGTGGGCCCTGCTCACCCGTCCCTCTCCTGCCACCTCCCACTGATGGGCGGCAGGCTGGCTACTCACTGCGCTGCTCAGGGAGTCCCAGCCTGCTTCATTTTCTTCTTGCTCTACCGTCCTGTTCTTTCAGAGCAGGGGCATGGTTTCCTTCCAAATATTTCTGCTGCTTTTATAAGTGTACACCCTTTTTTTTAATTATAAAAATGGGCTCGTGCTATTCAGTGCTGTCCAATAGAACTTTCTGTGATGATGAAAATGTCCTAGATCTGTGTGTCCAGTGCCATAGCTGCGAGCCATGTAGTGCTACCAGGTGCTTAAAGTGTGGCTAGTGTGGTTAAGCAACTGAATTTTCTATTTAAATTCATTTGCATTTAAAGGGGACACACGGGGCTCTTGGCTGCTGTGTTGAATGCTGGATATATTGTTCCACAACTTGGTTTTTTCCTACACTGTGGATGTTATTCCAAGTCAGTACATCTGCTATGTCTTCCTCATCATCAAATCTAATACTTCTGTGCTGGGCACTGGGCCAGCTGCTTTATTTGGATTATCTCATTTAAGTCTCATAACAACCCTGTAGAGATAGGCGCTACTATTATCATCTCTGTTGATAGGGGAGGAAACTGAAGCACAGAGCTGGTAAGTACCTGGTTGGTGTCTGCTACTGAGCTCACACAGCTAGTAAGTGGCAGAGGCAGAATTTTCCTTTTTTGTTTGTTTGTTTGTTTGTTTTAGTAGAGATGGGGTCTCCCCCTGTTGCTCAAGCTAGTCTTGAACTCCTAGGCTCAAGTGTTCCTCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGATATCAGCAACCATGCCTGGCCAGAGGCAGAAATGGGACCCTGACAGTCAGGCCCCAGAGCCTTTGCTCATAGGCAGGACCCTAGAGGGCATCCCTCTAGGGTCTTATTCAAGGTTGAGTGACATCCCCCTGCCCATGTTCCATTGTTAGCCCCTCCCACTCCCCCCACCATCCAGGGGCAGATGGCATCCCATCACCATGGGACCCTTAGGTGACCTGTGAGGGGGTTGTCCTGCTGCAGAAGGCCAGAGCAAGAAGCTGAGCCTTGGTTTGGGAGCTGTCCTGTTGGCACAGACTGGAGGGAAGCCTGTTTCAAGCATCTGAAAGGAATTGGTCTGCGGTTGGCCCCGCGAGGATGGGAGAAGCTAGGCAGAACAGAGCTTCCTGCAGAAAACACCTGCAAGCCTCGCTTGACCTCTCCCCCGCCTGCCCCAGCGCTCACACTTTGCTCTTCAGCCTGTGAAGGCCAGGCTCTGAGGGGGCCAGGACTCCAGGGCTTGCAAGAAAGGGTTCCTCGCCTGTGGGTGTGAATGCTGCGGGGGCAACTCTCACCATGGCTGCCACCCACCAGCGGGTGGGACTGTGCCACCGGGGAGTTTGGGTTTCCTTTCTACCCAGCAGGCATGGCTCAGTGGCAGACACCAACCACTGGCATCTGGGTTGTATTTCATAATTTGCAGGGTACTTGCAGAACCTTGTCTCATTTAAGCTTTGTAATAACCCCACAAAATAGCTGGTAGTAGCTGAATTTTACAGTCACTGAAATGGAACCTTGAAGAAATCAGGTGAAGGTCAGGGTGAGGCAGCTGGTGAGGAGCAGAACCCGCCCTCTGGTCCCAAGGCCCGGGGACCCTTCTGCCTGCCCTTGGAGGAGTTAGGGCACATGTTCAGGGTTTGAGTCAGGGCCTCTGCTTTTTGCCCAGGGCACATCCCACTCCCATTCCCACTGGCTCCGGCTGTGGAGACACCTCCAACCAAGGGGGCTGAAGCCAGCCCTACCCCACAGTCCCGAGGCATCAGACACTGTGCACACTCCCCTGCCCCCTGCTGGCTGCCCATCCGCTCCCTGTTGCCAGCCCCGACCCTGGTCCCTGTCCCCCAGCTACTTCGCTGCTTGCCACAGCCCCTACTCTGCTGCTTCCATTCTGGGGCCCGAGTGGAGGGGTGGACCTAGAGGAGGCTGGCATTGCCAAGCCAGCAGTGGGGACACCGGACACAGGCAGCAAGGGGTAGTGGAGCAGAACTCAGGCTCTGGAACCAGCCAAACCCAGATCTGAATGCCAGCCATGCCACTTCATCACTATGTGACCAGACAGATTTCCTAACCTCTCTGAGCATCCATTTCTTCAGCTGTAAAATAATGATAGTTCTTACAGTGTGTTGTTGTAAAGATTAATTAGTAGGGGAGTTCTGAGTGGTGGAAATACGAGTGGTGGTTATTCTTGTGTTTGTGCCTACCTTAAAAAAAAATCAACCAGCAGATCCTTTCCACCACAGCAGCTCCCAAGTTACTAGGAGCTGACTCTGGCCACACCACTCACTCTCCACCCATCTCCCCAG
Seq C2 exon
GCTGCTCCCGGCAGATCGGCTTCTCCTTTGTACGACCCAAGCTCTGTGCCTTCTCTGGCCTCTATTACTGTGACATCTGCCACCAAGACGATGCCTCAGTGATTCCGGCCAGGATCATCCACAACTGGGACCTCACCAAGCGCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190:ENST00000430334:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.088 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF139011=DUF4206=PU(17.1=71.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
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