Special

HsaINT0105180 @ hg38

Intron Retention

Gene
ENSG00000055950 | MRPL43
Description
mitochondrial ribosomal protein L43 [Source:HGNC Symbol;Acc:HGNC:14517]
Coordinates
chr10:100987090-100987483:-
Coord C1 exon
chr10:100987313-100987483
Coord A exon
chr10:100987197-100987312
Coord C2 exon
chr10:100987090-100987196
Length
116 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
CACTGTCCCGGGTCGCTTAGGGA
3' ss Score
3.77
Exon sequences
Seq C1 exon
CTCCTCGCTGCTTAGGCTCCGCGGCCTCCAAGCTGTAGCTATGACGGCGCGCGGGACTCCGAGCCGCTTCTTGGCCAGCGTTCTCCACAACGGACTGGGTCGCTATGTGCAGCAGCTGCAGCGTCTGAGCTTCAGCGTCAGCCGCGACGGCGCCTCGTCTCGCGGCGCCAG
Seq A exon
GTGAGCCAAGGGAAGTGCGCAGGCGCGGGTCGGGGTGGGTGTGGAGGTGGCAACGACTCCCCGGGTAGGTCGCCCCCAGTCAGGGGTCATACTGCTCACTGTCCCGGGTCGCTTAG
Seq C2 exon
GGAGTTCGTGGAGCGGGAGGTGATCGACTTCGCCCGACGGAATCCAGGGGTCGTAATATATGTAAACTCGCGTCCGTGCTGCGTGCCCAGAGTAGTGGCCGAATACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055950:ENST00000370234:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

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

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


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTAGCTATGACGGCGCG
R:
GTATTCGGCCACTACTCTGGG
Band lengths:
245-361
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