Special

HsaEX1027580 @ hg38

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70138899-70142686:+
Coord C1 exon
chr16:70138899-70139023
Coord A exon
chr16:70142234-70142389
Coord C2 exon
chr16:70142553-70142686
Length
156 bp
Sequences
Splice sites
3' ss Seq
ACTACTCGTGTCTTTTCTAGCTT
3' ss Score
9.2
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
GTACCTTGCCGAATGGATGGTACATGGTTATCCCTCAGAAAACGTTTGGGAATTGGACCTGAAACGTTTTGGAGCCCTCCAGAGCAGCCGCACCTTTCTGCGCCACCGGGTCATGGAAGTCATGC
Seq A exon
CTTTGATGTATGATCTGAAGGTTCCCCGCTGGGACTTCCAGACCGGTAGGCAGTTACGCACCTCTCCTCTCTACGACCGGCTGGATGCACAGGGAGCCAGGTGGATGGAGAAACATGGATTTGAGAGGCCAAAGTACTTTGTTCCCCCCGACAAGG
Seq C2 exon
ACCTCCTGGCATTGGAGCAGAGCAAGACTTTCTATAAGCCAGATTGGTTTGACATCGTGGAGTCTGAAGTCAAGTGCTGTAAGGAAGCTGTGTGTGTCATTGACATGTCCTCTTTCACAAAGTTTGAGATAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857-'31-37,'31-32,33-37
Average complexity
C1
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:
PF0126619=DAO=PD(1.4=11.6)
A:
NO
C2:
PF0157116=GCV_T=PU(16.4=26.7)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000288050fB22274


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTTGCCGAATGGATGGTAC
R:
TGTGAAAGAGGACATGTCAATGACA
Band lengths:
242-398
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains