Special

HsaEX0024631 @ hg38

Exon Skipping

Gene
Description
mitoguardin 2 [Source:HGNC Symbol;Acc:HGNC:23621]
Coordinates
chr9:129069076-129072082:+
Coord C1 exon
chr9:129069076-129069129
Coord A exon
chr9:129069849-129069965
Coord C2 exon
chr9:129070247-129072082
Length
117 bp
Sequences
Splice sites
3' ss Seq
CAGCCTTGTGCCCACCGCAGGTG
3' ss Score
7.53
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
GCCTTGGCCACTGCTTGCTGGTCGGTCCTGAAAGCCAAGAGGAGGCTGCTGATG
Seq A exon
GTGCCTGATGGCTTCATCTCCCATTTCTACTCCGTATCGGAGCATGTGAGCCCTGTCCTAGCCTTCGGCTTCCTTGGACCCAAGCCTCAGCTTGCTGAAGTCTGTGCTTTCTTCAAG
Seq C2 exon
CACCAGATTGTGCAGTACCTGAGGGACATGTTCGACCTGGACAATGTGCGCTACACGTCACTGCCCGCGCTGGCAGACGACATCCTGCAGCTGTCCCGGCGCCGCAGCGAGATATTGCTGGGGTACCTGGGGGTGCCCGCGGCCAGCAGCGCAGGCGTGAATGGGGCGCTGCCCCGAGAGAATGGGCCCCTGGGGGAGCTGCAGTAGAGGCGGCACGGGCTGGGGGGTGGCAGAGAGAAGGCTCCTCCTCCCTTCCCTGGGTTGGTATCTGACAGCTGTGGTGGCTGAGGGCCGTTGCCCCTGACTTTGCCCCACCCCCATCATCTGGGAGTCCCCAAGGCCCAGAGGGGACATTTCCATGGAGAAGAACGGTTCCTGGGGGAAGCAGAGGCCAGGACCAGTGGGGCCTGTGGGAGAGAAAGGCTGTGAGAGAGGGGGTTGTTGTGGAGAATTGGGACAGGCAGAGCCAGGATGCCCCAGGTGGGGGACCCCAAAACCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148343_CASSETTE3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.059
Domain overlap (PFAM):

C1:
PF102654=DUF2217=FE(3.2=100)
A:
PF102654=DUF2217=FE(7.1=100)
C2:
PF102654=DUF2217=PD(7.8=60.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


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:
GTCGGTCCTGAAAGCCAAGAG
R:
CTCTACTGCAGCTCCCCCAG
Band lengths:
243-360
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