Special

HsaEX1027583 @ hg38

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70144421-70146228:+
Coord C1 exon
chr16:70144421-70144533
Coord A exon
chr16:70145677-70145833
Coord C2 exon
chr16:70146134-70146228
Length
157 bp
Sequences
Splice sites
3' ss Seq
CATGTTCTAGCCTGTCTTAGGAT
3' ss Score
4.42
5' ss Seq
CGGGTACTG
5' ss Score
5.43
Exon sequences
Seq C1 exon
TTTCTTCATGATCTCTCCAACCGACCAGCAGGTCCACTGTTGGGCCTGGCTTAAGAAACACATGCCGAAAGACAGCAACCTGCTCCTGGAGGACGTCACCTGGAAGTACACAG
Seq A exon
GATGGATGACATGTAATTAGCACAAGCTGATGTCACAAACACTGGTGTCCAGAATAATGCTTTCCTTATCTAGTAAGCATTAGGATATGTTTGAAGTGGATTTAGCTTCTCTGAATTTAAAGTCTGTATACTTTTTGGTTGGGCAGATCTCCACCGG
Seq C2 exon
CCCTCAATCTGATTGGCCCTCGAGCTGTGGATGTGCTGTCTGAGTTGTCCTATGCCCCTATGACTCCAGACCACTTCCCAAGCCTCTTTTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0157116=GCV_T=FE(17.5=100)
A:
PF0157116=GCV_T=PD(1.0=14.3)
C2:
PF0157116=GCV_T=PU(11.2=91.7)


Main Inclusion Isoform:
ENST00000288050fB22276


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
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:
TCATGATCTCTCCAACCGACCA
R:
TTGCAAAAGAGGCTTGGGAAGT
Band lengths:
202-359
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains