HsaEX0040140 @ hg38
Exon Skipping
Gene
ENSG00000055950 | MRPL43
Description
mitochondrial ribosomal protein L43 [Source:HGNC Symbol;Acc:HGNC:14517]
Coordinates
chr10:100983755-100987196:-
Coord C1 exon
chr10:100987090-100987196
Coord A exon
chr10:100986749-100986975
Coord C2 exon
chr10:100983755-100983817
Length
227 bp
Sequences
Splice sites
3' ss Seq
TCTCACCCCTCTTCTGCCAGTTA
3' ss Score
8.74
5' ss Seq
CAGGTGCAA
5' ss Score
2.83
Exon sequences
Seq C1 exon
GGAGTTCGTGGAGCGGGAGGTGATCGACTTCGCCCGACGGAATCCAGGGGTCGTAATATATGTAAACTCGCGTCCGTGCTGCGTGCCCAGAGTAGTGGCCGAATACC
Seq A exon
TTAACGGGGCTGTGCGCGAGGAGAGCATCCACTGCAAGTCGGTCGAGGAGATCTCGACGCTGGTGCAGAAGCTGGCCGACCAGTCGGGCTTGGACGTGATCCGCATCCGCAAGCCCTTCCACACCGACAACCCTAGCATCCAGGGCCAGTGGCACCCCTTCACCAACAAGCCGACCACGTTCCGCGGGCTACGCCCCCGAGAGGTTCAGGATCCTGCCCCAGCCCAG
Seq C2 exon
GACACTGGCCTGAGACTGTCTGCAGTTGCACCGCAGATCCTCCTGCCCGGCTGGCCCGACCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055950_MULTIEX1-2/4=1-C2
Average complexity
C2*
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.319 C2=0.203
Domain overlap (PFAM):
C1:
PF0504711=L51_S25_CI-B8=PU(65.4=94.4)
A:
PF0504711=L51_S25_CI-B8=PD(29.6=21.1)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTTCGTGGAGCGGGAGG
R:
GCCGGGCAGGAGGATCTG
Band lengths:
157-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development