Special

HsaEX0046439 @ hg38

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70136194-70142389:+
Coord C1 exon
chr16:70136194-70136386
Coord A exon
chr16:70138899-70139023
Coord C2 exon
chr16:70142234-70142389
Length
125 bp
Sequences
Splice sites
3' ss Seq
CGTGCCCTCTGTCTATATAGGTA
3' ss Score
11.72
5' ss Seq
TGCGTAAGT
5' ss Score
9.73
Exon sequences
Seq C1 exon
AGCCTCTGTTGAGTTCCCTTCTGAGGAGGATGCCAGAATTAGAGACTCTGGAGATCATGAAGTTGGTGAACTGCCCAGAGACCTTCACACCAGACATGAGGTGCATCATGGGCGAGTCTCCTGCAGTGCAGGGCTACTTTGTCCTGGCAGGAATGAACTCTGCTGGCCTTTCATTTGGTGGAGGAGCCGGAAA
Seq A exon
GTACCTTGCCGAATGGATGGTACATGGTTATCCCTCAGAAAACGTTTGGGAATTGGACCTGAAACGTTTTGGAGCCCTCCAGAGCAGCCGCACCTTTCTGCGCCACCGGGTCATGGAAGTCATGC
Seq C2 exon
CTTTGATGTATGATCTGAAGGTTCCCCGCTGGGACTTCCAGACCGGTAGGCAGTTACGCACCTCTCCTCTCTACGACCGGCTGGATGCACAGGGAGCCAGGTGGATGGAGAAACATGGATTTGAGAGGCCAAAGTACTTTGTTCCCCCCGACAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857-'28-32,'28-30,31-32
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0126619=DAO=FE(17.8=100)
A:
PF0126619=DAO=PD(1.4=11.6)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTTCTGAGGAGGATGCCAGA
R:
CGGTCGTAGAGAGGAGAGGTG
Band lengths:
256-381
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