Special

HsaEX0040138 @ hg38

Exon Skipping

Gene
ENSG00000055950 | MRPL43
Description
mitochondrial ribosomal protein L43 [Source:HGNC Symbol;Acc:HGNC:14517]
Coordinates
chr10:100983755-100986975:-
Coord C1 exon
chr10:100986749-100986975
Coord A exon
chr10:100983948-100984074
Coord C2 exon
chr10:100983755-100983817
Length
127 bp
Sequences
Splice sites
3' ss Seq
GTGTGCTTCCTTTTTTCCAGGAT
3' ss Score
10.83
5' ss Seq
TTGGTCAGC
5' ss Score
2.52
Exon sequences
Seq C1 exon
TTAACGGGGCTGTGCGCGAGGAGAGCATCCACTGCAAGTCGGTCGAGGAGATCTCGACGCTGGTGCAGAAGCTGGCCGACCAGTCGGGCTTGGACGTGATCCGCATCCGCAAGCCCTTCCACACCGACAACCCTAGCATCCAGGGCCAGTGGCACCCCTTCACCAACAAGCCGACCACGTTCCGCGGGCTACGCCCCCGAGAGGTTCAGGATCCTGCCCCAGCCCAG
Seq A exon
GATGCGGCTGAGTTCCTCGGCGAAGGAGCAGGGCCCTGCTGGTACTCCATTGTTGCTCTGCCTCAGAAGCACATAGCTATTGCCATTCATCCTCCGCAGCCGGCTGGGCAGTGCCACCAAGCCATTG
Seq C2 exon
GACACTGGCCTGAGACTGTCTGCAGTTGCACCGCAGATCCTCCTGCCCGGCTGGCCCGACCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055950-'2-9,'2-8,13-9=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.319 A=0.128 C2=0.203
Domain overlap (PFAM):

C1:
PF0504711=L51_S25_CI-B8=PD(29.6=21.1)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCCACTGCAAGTCGGTCG
R:
GAGGATCTGCGGTGCAACTG
Band lengths:
244-371
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