Special

HsaEX0040139 @ hg38

Exon Skipping

Gene
ENSG00000055950 | MRPL43
Description
mitochondrial ribosomal protein L43 [Source:HGNC Symbol;Acc:HGNC:14517]
Coordinates
chr10:100986749-100987483:-
Coord C1 exon
chr10:100987313-100987483
Coord A exon
chr10:100987090-100987196
Coord C2 exon
chr10:100986749-100986975
Length
107 bp
Sequences
Splice sites
3' ss Seq
CACTGTCCCGGGTCGCTTAGGGA
3' ss Score
3.77
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
Exon sequences
Seq C1 exon
CTCCTCGCTGCTTAGGCTCCGCGGCCTCCAAGCTGTAGCTATGACGGCGCGCGGGACTCCGAGCCGCTTCTTGGCCAGCGTTCTCCACAACGGACTGGGTCGCTATGTGCAGCAGCTGCAGCGTCTGAGCTTCAGCGTCAGCCGCGACGGCGCCTCGTCTCGCGGCGCCAG
Seq A exon
GGAGTTCGTGGAGCGGGAGGTGATCGACTTCGCCCGACGGAATCCAGGGGTCGTAATATATGTAAACTCGCGTCCGTGCTGCGTGCCCAGAGTAGTGGCCGAATACC
Seq C2 exon
TTAACGGGGCTGTGCGCGAGGAGAGCATCCACTGCAAGTCGGTCGAGGAGATCTCGACGCTGGTGCAGAAGCTGGCCGACCAGTCGGGCTTGGACGTGATCCGCATCCGCAAGCCCTTCCACACCGACAACCCTAGCATCCAGGGCCAGTGGCACCCCTTCACCAACAAGCCGACCACGTTCCGCGGGCTACGCCCCCGAGAGGTTCAGGATCCTGCCCCAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055950_MULTIEX1-1/4=C1-2
Average complexity
S
Mappability confidence:
80%=100=80%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.006 A=0.000 C2=0.319
Domain overlap (PFAM):

C1:
PF0504711=L51_S25_CI-B8=PU(1.9=2.3)
A:
PF0504711=L51_S25_CI-B8=PU(65.4=94.4)
C2:
PF0504711=L51_S25_CI-B8=PD(29.6=21.1)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTTGGCCAGCGTTCTCC
R:
GATGCTAGGGTTGTCGGTGTG
Band lengths:
245-352
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development