HsaEX0048411 @ hg19
Exon Skipping
Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology domain containing, family M (with RUN domain) member 1 [Source:HGNC Symbol;Acc:29017]
Coordinates
chr17:43535535-43553092:-
Coord C1 exon
chr17:43552466-43553092
Coord A exon
chr17:43545575-43545959
Coord C2 exon
chr17:43535535-43535805
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_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.271 A=0.961 C2=0.872
Domain overlap (PFAM):
C1:
PF0275914=RUN=PD(92.2=39.5)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)