Special

HsaEX0046435 @ hg38

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70142553-70144533:+
Coord C1 exon
chr16:70142553-70142686
Coord A exon
chr16:70143510-70143658
Coord C2 exon
chr16:70144421-70144533
Length
149 bp
Sequences
Splice sites
3' ss Seq
TTCATTCCCTAACCCTGCAGTCC
3' ss Score
7.63
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
ACCTCCTGGCATTGGAGCAGAGCAAGACTTTCTATAAGCCAGATTGGTTTGACATCGTGGAGTCTGAAGTCAAGTGCTGTAAGGAAGCTGTGTGTGTCATTGACATGTCCTCTTTCACAAAGTTTGAGATAACA
Seq A exon
TCCACTGGGGATCAGGCATTAGAAGTTCTACAGTACCTCTTCTCCAATGACCTGGATGTGCCTGTGGGCCACATTGTGCATACTGGCATGCTCAACGAGGGTGGAGGGTATGAAAATGACTGCAGCATAGCACGACTGAACAAGCGCAG
Seq C2 exon
TTTCTTCATGATCTCTCCAACCGACCAGCAGGTCCACTGTTGGGCCTGGCTTAAGAAACACATGCCGAAAGACAGCAACCTGCTCCTGGAGGACGTCACCTGGAAGTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857-'34-41,'34-38,35-41
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:
PF0157116=GCV_T=PU(16.4=26.7)
A:
PF0157116=GCV_T=FE(22.6=100)
C2:
PF0157116=GCV_T=FE(17.5=100)


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:
CTCCTGGCATTGGAGCAGAG
R:
TGTACTTCCAGGTGACGTCCT
Band lengths:
242-391
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development