Special

HsaEX0046436 @ hg38

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70113626-70120719:+
Coord C1 exon
chr16:70113626-70114440
Coord A exon
chr16:70114821-70114930
Coord C2 exon
chr16:70120461-70120719
Length
110 bp
Sequences
Splice sites
3' ss Seq
CCGGTCCTCCATCCCTGCAGATG
3' ss Score
11.19
5' ss Seq
GCAGTAAGC
5' ss Score
5.06
Exon sequences
Seq C1 exon
ACTGGCTTTGGAGTAAGCCCTGGCACGGGCCTCGAGGGAAGAAAGAACTCCCGCGCTCCCCACACTCCACAGGGCCTGCGATCATCTCAGATGTTCCGGTTCCACGTGCAGAAACCCCGCCGGTCCGAGGCCCCGGTTCTAAAACGGCCCTAAGAGTCAAGGCTTCCACAGCTCGCCTCTGAGGGTGGCAAAGAGGCCGCGGGGGCGGTGCCTCGCGAGACCCAAACAAGCCCACGTGGCAGGGGCGGGGCTCCGCGAAGGCGTCACGGCGCGCTCGTGCGCTGCTGAGGTCACGCGCCGGCAGTACCCTTGCCCGGGGGCCGTAAAGCGCGGAAGGTCGCGGTCTCGGCTTCCCCGGAACTTTTTGCTCGCTTCGCCCCGCCCCCTTCCCATCCCCGAACCCCGCTTTCCGGCCCGCGGCGACCCCAGGCAACTGTTGTGGCTGCCGCATTGCTCCCGCCGGGCTGTAGCTGAGCGCGGAGCCCGTGGGGACCGGTGAG
Seq A exon
ATGGAACTGTTTTCCCGCGTTGAGACGTGCGGTCCGCTTGTGCTTTTAGAACTAAAGACTGCTGCAGAGTCCGGAGGAAGAAGTCACCTAGAAAAATCTGGGACAGGGCA
Seq C2 exon
TTTGAGTTCCTGAGATCTAGTTGGTGAGAGACATGATGTTCTACCGGTTGCTGTCGATTGTTGGAAGACAAAGAGCCAGCCCAGGATGGCAGAACTGGTCCTCTGCAAGAAACAGCACGTCAGCTGCCGAGGCGCGTTCCATGGCCCTGCCCACCCAGGCACAGGTGGTCATCTGTGGAGGTGGAATCACGGGCACTTCTGTGGCCTATCACCTCTCCAAAATGGGGTGGAAGGATATTGTCCTTTTGGAGCAGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857-'0-5,'0-0,2-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=NA C2=0.013
Domain overlap (PFAM):

C1:
NA
A:
NA
C2:
PF0126619=DAO=PU(10.6=42.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGAACTTTTTGCTCGCTTCG
R:
GAGGACCAGTTCTGCCATCCT
Band lengths:
248-358
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