Special

HsaEX0030885 @ hg38

Exon Skipping

Gene
Description
isocitrate dehydrogenase (NADP(+)) 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:5383]
Coordinates
chr15:90088587-90102504:-
Coord C1 exon
chr15:90102276-90102504
Coord A exon
chr15:90090479-90090644
Coord C2 exon
chr15:90088587-90088747
Length
166 bp
Sequences
Splice sites
3' ss Seq
CTCTGGCCCTCTGTCCCCAGCTC
3' ss Score
9.95
5' ss Seq
AAGGTGCGA
5' ss Score
7.16
Exon sequences
Seq C1 exon
GTGCCCGCGCGGCCAGCGCCCGCCAGGCCCAGCGTTAGCCCGCGGCCAGGCAGCCGGGAGGAGCGGCGCGCGCTCGGACCTCTCCCGCCCTGCTCGTTCGCTCTCCAGCTTGGGATGGCCGGCTACCTGCGGGTCGTGCGCTCGCTCTGCAGAGCCTCAGGCTCGCGGCCGGCCTGGGCGCCGGCGGCCCTGACAGCCCCCACCTCGCAAGAGCAGCCGCGGCGCCACT
Seq A exon
CTCATCCTGCCCCACGTGGACATCCAGCTAAAGTATTTTGACCTCGGGCTCCCAAACCGTGACCAGACTGATGACCAGGTCACCATTGACTCTGCACTGGCCACCCAGAAGTACAGTGTGGCTGTCAAGTGTGCCACCATCACCCCTGATGAGGCCCGTGTGGAAG
Seq C2 exon
AGTTCAAGCTGAAGAAGATGTGGAAAAGTCCCAATGGAACTATCCGGAACATCCTGGGGGGGACTGTCTTCCGGGAGCCCATCATCTGCAAAAACATCCCACGCCTAGTCCCTGGCTGGACCAAGCCCATCACCATTGGCAGGCACGCCCATGGCGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182054_MULTIEX1-2/4=C1-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.392 A=0.036 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0018015=Iso_dh=FE(13.9=100)
C2:
PF0018015=Iso_dh=FE(13.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGTTCGCTCTCCAGCTTG
R:
TAGGCGTGGGATGTTTTTGCA
Band lengths:
244-410
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