Special

HsaEX0040138 @ hg19

Exon Skipping

Gene
ENSG00000055950 | MRPL43
Description
mitochondrial ribosomal protein L43 [Source:HGNC Symbol;Acc:14517]
Coordinates
chr10:102743512-102746732:-
Coord C1 exon
chr10:102746506-102746732
Coord A exon
chr10:102743705-102743831
Coord C2 exon
chr10:102743512-102743574
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-'4-8,'4-7,12-8
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.327 A=0.132 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
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
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