HsaEX1028542 @ hg38
Exon Skipping
Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45477900-45490744:-
Coord C1 exon
chr17:45490652-45490744
Coord A exon
chr17:45482437-45482525
Coord C2 exon
chr17:45477900-45478147
Length
89 bp
Sequences
Splice sites
3' ss Seq
GCTGCCATCTGTCTCTTCAGGTG
3' ss Score
10.56
5' ss Seq
CCGGTAGGT
5' ss Score
9.39
Exon sequences
Seq C1 exon
GTTGTCAGTGGCCGAGAGACCGCATCGTCGGCTCGGAGGCTGAGGGGCTGCCGCGGCCGGGAGCGCCCCTCGCCTCGCTCCTCGCTCCGCTTG
Seq A exon
GTGTCATGTGATTCTCTGAGGGAGCAGCTGCGTGAGTGGAGATGCTTTCAGTGGTGGAGAATGGACTGGACCCCCAGGCTGCCATCCCG
Seq C2 exon
GTCATCAAGAAGAAGCTGGTGGGATCCGTGAAGGCCTTGCAGAAGCAGTACGTGTCCCTGGACACGGTGGTCACTAGTGAAGACGGAGATGCCAACACCATGTGCAGCGCCCTGGAGGCCGTATTTATCCATGGCCTGCACGCCAAGCACATCCGAGCTGAGGCCGGAGGAAAAAGGAAGAAAAGTGCCCACCAGAAGCCTCTGCCCCAGCCTGTCTTCTGGCCCCTCCTGAAAGCTGTCACCCACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190-'0-9,'0-5,2-9
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.146 C2=0.070
Domain overlap (PFAM):
C1:
NA
A:
PF0275914=RUN=PU(11.5=81.2)
C2:
PF0275914=RUN=PU(37.3=60.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTGTCAGTGGCCGAGAGAC
R:
TCACTAGTGACCACCGTGTCC
Band lengths:
173-262
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains