HsaEX1028546 @ hg38
Exon Skipping
Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45440163-45450763:-
Coord C1 exon
chr17:45450618-45450763
Coord A exon
chr17:45445470-45445663
Coord C2 exon
chr17:45440163-45440226
Length
194 bp
Sequences
Splice sites
3' ss Seq
ATGCCTGGTGGTACCCCCAGATC
3' ss Score
6.48
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GCTGCTCCCGGCAGATCGGCTTCTCCTTTGTACGACCCAAGCTCTGTGCCTTCTCTGGCCTCTATTACTGTGACATCTGCCACCAAGACGATGCCTCAGTGATTCCGGCCAGGATCATCCACAACTGGGACCTCACCAAGCGCCCG
Seq A exon
ATCTGCAGGCAGGCCCTGAAGTTTCTGACACAGATCCGGGCCCAGCCCCTCATCAACCTGCAGATGGTGAACGCGTCTCTGTACGAGCATGTGGAGCGGATGCACCTCATTGGGAGGAGACGGGAGCAGCTGAAGCTCCTGGGGGATTACCTGGGCCTGTGCCGGAGTGGCGCCCTGAAGGAGCTCAGCAAGAG
Seq C2 exon
GCTCAACCACAGGAATTATCTCTTGGAATCTCCGCATAGGTTCAGTGTTGCTGACCTCCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190_MULTIEX2-2/7=1-3
Average complexity
S*
Mappability confidence:
90%=100=90%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF139011=DUF4206=PU(17.1=71.4)
A:
PF139011=DUF4206=PU(28.6=92.3)
C2:
PF139011=DUF4206=FE(48.8=100),PF139011=DUF4206=PU(3.0=9.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCAGATCGGCTTCTCCTTT
R:
CTGTTGGAGGTCAGCAACACT
Band lengths:
202-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains