Special

HsaEX0046440 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:30264]
Coordinates
chr16:70180037-70187476:+
Coord C1 exon
chr16:70180037-70180131
Coord A exon
chr16:70182367-70182456
Coord C2 exon
chr16:70187294-70187476
Length
90 bp
Sequences
Splice sites
3' ss Seq
TGCTGCCTTTGTCCCTGCAGGAG
3' ss Score
12.28
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
CCCTCAATCTGATTGGCCCTCGAGCTGTGGATGTGCTGTCTGAGTTGTCCTATGCCCCTATGACTCCAGACCACTTCCCAAGCCTCTTTTGCAAG
Seq A exon
GAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAG
Seq C2 exon
TACGCCCTGCATGTATACAATGAAGTGATGAGTGTTGGCCAGAAATACGGAATCCGGAATGCTGGGTATTACGCTCTTCGCAGTCTCCGAATTGAGAAGTTTTTTGCCTTCTGGGGTCAGGATATAAATAACCTCACCACGCCCCTGGAATGTGGACGAGAGTCTCGGGTGAAATTAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857_MULTIEX5-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0157116=GCV_T=PU(11.3=91.7)
A:
PF0157116=GCV_T=PU(33.3=96.6)
C2:
PF0157116=GCV_T=PD(24.9=88.5)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCCCCTATGACTCCAGACC
R:
ATCCTGACCCCAGAAGGCAAA
Band lengths:
167-257
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