Special

HsaEX0040208 @ hg38

Exon Skipping

Gene
Description
mitochondrial ribosomal protein S5 [Source:HGNC Symbol;Acc:HGNC:14498]
Coordinates
chr2:95101677-95106457:-
Coord C1 exon
chr2:95106423-95106457
Coord A exon
chr2:95104640-95104730
Coord C2 exon
chr2:95101677-95101723
Length
91 bp
Sequences
Splice sites
3' ss Seq
TGAGACATTTTGCCTTTTAGGTA
3' ss Score
9.16
5' ss Seq
CAGGTGAAT
5' ss Score
6.6
Exon sequences
Seq C1 exon
AAACATATGAGGATTTTGATACCAGGATACTTGAG
Seq A exon
GTAAGAAACGTTTTCACTATGACTGCGAAAGAGGGAAGAAAGAAATCGATCCGTGTCTTGGTGGCTGTGGGGAACGGAAAAGGAGCTGCAG
Seq C2 exon
GTTTTTCTATTGGGAAAGCTACTGATCGGATGGATGCTTTCAGGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144029_MULTIEX1-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.083 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0033315=Ribosomal_S5=PU(10.3=58.3)
A:
PF0033315=Ribosomal_S5=FE(44.1=100)
C2:
PF0033315=Ribosomal_S5=FE(22.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATATGAGGATTTTGATACCAGGA
R:
TTCCTGAAAGCATCCATCCGA
Band lengths:
79-170
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