Special

HsaEX0024629 @ hg38

Exon Skipping

Gene
Description
mitoguardin 2 [Source:HGNC Symbol;Acc:HGNC:23621]
Coordinates
chr9:129048427-129049963:+
Coord C1 exon
chr9:129048427-129048539
Coord A exon
chr9:129049381-129049498
Coord C2 exon
chr9:129049827-129049963
Length
118 bp
Sequences
Splice sites
3' ss Seq
TTGCACTGATTGGCGCCCAGATG
3' ss Score
3.94
5' ss Seq
AAGGTGTGG
5' ss Score
5.28
Exon sequences
Seq C1 exon
GATACTCCAGCCGGAGAGTCCAGAGCCCCAGCAGCAAGAGCAACGACACCCTGAGTGGCATCTCTTCCATTGAGCCCAGCAAGCACTCGGGCTCCTCCCACAGTGTGGCCTCG
Seq A exon
ATGATGGCAGTGAACTCATCCAGCCCCACAGCCGCGTGCTCGGGACTATGGGATGCCAGAGGGATGGAGGAGTCTCTGACCACCAGCGACGGCAATGCAGAGAGCCTGTACATGCAAG
Seq C2 exon
GCATGGAGCTGTTTGAGGAAGCTCTGCAGAAGTGGGAGCAGGCACTAAGCGTGGGCCAGCGGGGGGACAGCGGCAGCACCCCCATGCCCAGGGACGGCCTCCGGAACCCAGAGACTGCATCAGAGCCACTGTCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148343_MULTIEX1-3/5=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.974 A=0.713 C2=0.696
Domain overlap (PFAM):

C1:
PF102654=DUF2217=FE(17.1=100)
A:
PF102654=DUF2217=FE(18.1=100)
C2:
PF102654=DUF2217=FE(10.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGCCGGAGAGTCCAGAG
R:
CAGACAGTGGCTCTGATGCAG
Band lengths:
242-360
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