HsaEX0024630 @ hg38
Exon Skipping
Gene
ENSG00000148343 | MIGA2
Description
mitoguardin 2 [Source:HGNC Symbol;Acc:HGNC:23621]
Coordinates
chr9:129068198-129069129:+
Coord C1 exon
chr9:129068198-129068332
Coord A exon
chr9:129068838-129068975
Coord C2 exon
chr9:129069076-129069129
Length
138 bp
Sequences
Splice sites
3' ss Seq
TGTGTTGTGCCCCTTTACAGAAG
3' ss Score
9.56
5' ss Seq
GGGGTGAGC
5' ss Score
5.97
Exon sequences
Seq C1 exon
GTGGTATGCATGAGCTTCTTCGACATCGTGCTGGACTTCATCCTCATGGACGCCTTCGAGGACCTGGAGAACCCTCCGGCCTCGGTGCTCGCCGTCCTGCGGAACCGCTGGCTGTCAGACAGCTTCAAGGAGACG
Seq A exon
AAGAGGAGACCGAGGCTCAGAGAAGATCCAGCAGTAAGATTAGAGTCAAGATTCAAGTTTAGGTATGTCTGAGTCCAAAATCAGAGGAGGAAGCAGCAGAGCTTAGGCACCTGGCCCCATCTTCCTGCTTGGAGTGGG
Seq C2 exon
GCCTTGGCCACTGCTTGCTGGTCGGTCCTGAAAGCCAAGAGGAGGCTGCTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148343_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.188 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF102654=DUF2217=FE(10.0=100)
A:
PF102654=DUF2217=PD(0.5=8.3)
C2:
PF102654=DUF2217=FE(3.2=100)
Main Inclusion Isoform:
ENST00000358369fB2607
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTATGCATGAGCTTCTTCGACA
R:
CATCAGCAGCCTCCTCTTGG
Band lengths:
187-325
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development