Special

HsaEX0046438 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:30264]
Coordinates
chr16:70166054-70172926:+
Coord C1 exon
chr16:70166054-70166203
Coord A exon
chr16:70170097-70170289
Coord C2 exon
chr16:70172802-70172926
Length
193 bp
Sequences
Splice sites
3' ss Seq
GTTTTGTTGTCATTGCTCAGAGC
3' ss Score
6.32
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
CTATTGTGGATGCTGATGGAAGAATTTATATTCGGAACTGGCAGGGTGGCATCCTGTCTGGGGGCTTTGAGAAGAACCCGAAACCAATTTTCACTGAGGGCAAGAACCAGCTGGAGATTCAGAATCTACAGGAAGACTGGGATCACTTTG
Seq A exon
AGCCTCTGTTGAGTTCCCTTCTGAGGAGGATGCCAGAATTAGAGACTCTGGAGATCATGAAGTTGGTGAACTGCCCAGAGACCTTCACACCAGACATGAGGTGCATCATGGGCGAGTCTCCTGCAGTGCAGGGCTACTTTGTCCTGGCAGGAATGAACTCTGCTGGCCTTTCATTTGGTGGAGGAGCCGGAAA
Seq C2 exon
GTACCTTGCCGAATGGATGGTACATGGTTATCCCTCAGAAAACGTTTGGGAATTGGACCTGAAACGTTTTGGAGCCCTCCAGAGCAGCCGCACCTTTCTGCGCCACCGGGTCATGGAAGTCATGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857_MULTIEX3-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.020 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0126619=DAO=FE(13.9=100)
A:
PF0126619=DAO=FE(17.8=100)
C2:
PF0126619=DAO=PD(1.4=11.6)


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:
ATATTCGGAACTGGCAGGGTG
R:
ATGACTTCCATGACCCGGTGG
Band lengths:
246-439
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