HsaEX1046119 @ hg38
Exon Skipping
Gene
ENSG00000055950 | MRPL43
Description
mitochondrial ribosomal protein L43 [Source:HGNC Symbol;Acc:HGNC:14517]
Coordinates
chr10:100986274-100986975:-
Coord C1 exon
chr10:100986749-100986975
Coord A exon
chr10:100986687-100986705
Coord C2 exon
chr10:100986274-100986572
Length
19 bp
Sequences
Splice sites
3' ss Seq
CCCACCAACTGCAGCCCCAGGCT
3' ss Score
-2.98
5' ss Seq
CCGGTAAAG
5' ss Score
6.84
Exon sequences
Seq C1 exon
TTAACGGGGCTGTGCGCGAGGAGAGCATCCACTGCAAGTCGGTCGAGGAGATCTCGACGCTGGTGCAGAAGCTGGCCGACCAGTCGGGCTTGGACGTGATCCGCATCCGCAAGCCCTTCCACACCGACAACCCTAGCATCCAGGGCCAGTGGCACCCCTTCACCAACAAGCCGACCACGTTCCGCGGGCTACGCCCCCGAGAGGTTCAGGATCCTGCCCCAGCCCAG
Seq A exon
GCTTTGGACTGTTACTCCG
Seq C2 exon
TGCCTGCTTCTGGGGGCAGTGACCTTGTGAACCACTCATTTTTATGCAAGTGGCATCCCTAAAACCTGAGATGAGGAAGACTTCAAGGGTTTTACAGGGCCCTTGTTTTTTAAATCCAAATTGATAATAATGATCTCAAAACACAGTGAGAGGTCTGAAGGCTGGCTTCTGAAGAATCCCTGATGTCTTATTGGAACAACCACTGAGCTACGGAGAGCTCTGCTGTGATGGGCTAGGCACTTTATATCTGTGTGAATACAGATTTATAAAACAGGTTAATAAACTTATCCAAGGTCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055950-'2-7,'2-6,3-7
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.319 A=0.327 C2=0.000
Domain overlap (PFAM):
C1:
PF0504711=L51_S25_CI-B8=PD(29.6=21.1)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCACCAACAAGCCGACCAC
R:
AGTGGTTCACAAGGTCACTGC
Band lengths:
106-125
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains