HsaEX0048411 @ hg38
Exon Skipping
Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45458169-45475726:-
Coord C1 exon
chr17:45475100-45475726
Coord A exon
chr17:45468209-45468593
Coord C2 exon
chr17:45458169-45458439
Length
385 bp
Sequences
Splice sites
3' ss Seq
TCTTTGTTTAAAACTTCTAGGGT
3' ss Score
6.78
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
CAGGCCCGCTTGCATGAGTACTACCAGCCCACCGCCCTGCTCCGGGATGCTGAGGAGGGCGAGTTCCTCCTTAGCTTCCTGCAGGGCCTCACGTCCTTGTCCTTCGAACTCTCCTACAAGTCTGCCATCTTAAATGAGTGGACGCTCACCCCATTGGCCCTGTCTGGGCTTTGCCCGCTTTCTGAGCTGGACCCTCTCTCTACCTCTGGTGCAGAACTACAGCGGAAGGAATCTCTGGATTCCATTTCCCATTCTTCAGGCTCTGAAGACATCGAAGTCCATCACTCGGGCCATAAGATACGGAGGAACCAGAAGCTGACTGCCTCCTCCCTCAGCCTGGACACGGCCAGTTCATCCCAGCTGTCCTGCAGCCTAAACTCTGATAGCTGCTTACTCCAAGAGAATGGCTCCAAGAGTCCAGACCATTGCGAGGAGCCCATGTCCTGTGACTCAGACCTGGGCACAGCAAATGCTGAGGACTCAGACCGGTCTCTGCAAGA
Seq A exon
GGTATTGTTGGAATTCAGCAAAGCCCAGGTAAACTCTGTGCCAACCAACGGACTGAGCCAAGAAACAGAGATCCCCACACCACAGGCCTCGCTCTCCCTCCATGGCCTCAACACCAGCACATACCTGCACTGTGAGGCACCTGCAGAGCCCCTTCCTGCCCAGGCAGCCTCTGGAACTCAAGATGGTGTCCACGTGCAGGAGCCGCGTCCCCAGGCGCCCAGCCCCCTGGACTTACAGCAGCCTGTAGAGAGCACCTCAGGCCAGCAGCCTTCTAGTACTGTCAGCGAGACAGCCAGAGAAGTGGGCCAAGGGAATGGCCTGCAGAAGGCCCAGGCTCATGACGGAGCTGGTCTGAAGCTGGTAGTTTCCTCACCCACCAGTCCG
Seq C2 exon
AAAAACAAGAGCTGGATCTCAGAGGATGACTTCTACCGGCCTTCCCGGGAGCAACCCCTGGAGAGTGCTTCAGACCACCCAATAGCTTCTTACAGGGGGACTCCAGGGTCAAGGCCTGGTCTCCACAGGCATTTTTCTCAAGAACCAAGAAAAAACTGCTCCCTGGGGGCGTTAGACCAAGCGTGTGTACCTTCCCCAGGAAGAAGGCAAGCCCAGGCAGCCCCATCCCAGGGGCATAAGAGCTTCCGGGTGGTACACCGGAGACAGATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190-'16-56,'16-45,21-56
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.339 A=0.961 C2=0.857
Domain overlap (PFAM):
C1:
PF0275914=RUN=PD(61.9=39.5)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTCTCTCTACCTCTGGTGC
R:
GGCCGGTAGAAGTCATCCTCT
Band lengths:
350-735
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development