Special

HsaINT0078780 @ hg19

Intron Retention

Gene
Description
isocitrate dehydrogenase 2 (NADP+), mitochondrial [Source:HGNC Symbol;Acc:5383]
Coordinates
chr15:90630344-90630807:-
Coord C1 exon
chr15:90630671-90630807
Coord A exon
chr15:90630496-90630670
Coord C2 exon
chr15:90630344-90630495
Length
175 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAAG
5' ss Score
2.69
3' ss Seq
ACAGACCTTTTTACTCCCAGGCA
3' ss Score
6.12
Exon sequences
Seq C1 exon
TCCATCTCAGGTTTTGCGCACAGCTGCTTCCAGTATGCCATCCAGAAGAAATGGCCGCTGTACATGAGCACCAAGAACACCATACTGAAAGCCTACGATGGGCGTTTCAAGGACATCTTCCAGGAGATCTTTGACAA
Seq A exon
GTAAAGCCTCATCCATGTACTCTGTGGCCTTTCTTCCCTTCCCCCCATGCTGTTCCCATCCTACCCTGGGAAGGTCGCTATTAGAGTGCATTTGGCTCAGCTCCGAGGCTCAGGGAGGGATCCCCAACCTGTCAGCCTTCTGCCCTCTCCCCATAACAGACCTTTTTACTCCCAG
Seq C2 exon
GCACTATAAGACCGACTTCGACAAGAATAAGATCTGGTATGAGCACCGGCTCATTGATGACATGGTGGCTCAGGTCCTCAAGTCTTCGGGTGGCTTTGTGTGGGCCTGCAAGAACTATGACGGAGATGTGCAGTCAGACATCCTGGCCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182054-IDH2:NM_002168:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0018015=Iso_dh=FE(11.3=100)
A:
NA
C2:
PF0018015=Iso_dh=FE(12.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCTGCTTCCAGTATGCCAT
R:
TCTGACTGCACATCTCCGTCA
Band lengths:
255-430
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