Special

HsaEX7105658 @ hg38

Exon Skipping

Gene
Description
mitoguardin 2 [Source:HGNC Symbol;Acc:HGNC:23621]
Coordinates
chr9:129042304-129049498:+
Coord C1 exon
chr9:129042304-129042514
Coord A exon
chr9:129048427-129048539
Coord C2 exon
chr9:129049381-129049498
Length
113 bp
Sequences
Splice sites
3' ss Seq
TGCCCTTCTGCTCCTCACAGGAT
3' ss Score
10.49
5' ss Seq
TCGGTGAGC
5' ss Score
9.1
Exon sequences
Seq C1 exon
TCTGCATTCTCCCAGCTACGGTTGACGCCAGGCCTGCGGAAAGTCCTCTTTGCCACGGCCCTGGGGACTGTGGCCCTGGCCCTGGCTGCCCACCAGCTGAAGAGGCGACGGAGGAGGAAGAAGCAGGTTGGTCCCGAGATGGGAGGGGAGCAGCTGGGCACGGTGCCCCTCCCTATCCTCTTGGCCAGGAAGGTCCCTTCAGTGAAGAAAG
Seq A exon
GATACTCCAGCCGGAGAGTCCAGAGCCCCAGCAGCAAGAGCAACGACACCCTGAGTGGCATCTCTTCCATTGAGCCCAGCAAGCACTCGGGCTCCTCCCACAGTGTGGCCTCG
Seq C2 exon
ATGATGGCAGTGAACTCATCCAGCCCCACAGCCGCGTGCTCGGGACTATGGGATGCCAGAGGGATGGAGGAGTCTCTGACCACCAGCGACGGCAATGCAGAGAGCCTGTACATGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148343-'10-20,'10-19,18-20=AN
Average complexity
A_S
Mappability confidence:
100%=100=75%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.209 A=0.974 C2=0.713
Domain overlap (PFAM):

C1:
PF102654=DUF2217=PD(94.2=95.6)
A:
PF102654=DUF2217=FE(17.1=100)
C2:
PF102654=DUF2217=FE(18.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAAGTCCTCTTTGCCACGG
R:
GGTCAGAGACTCCTCCATCCC
Band lengths:
255-368
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains