Special

HsaEX1027584 @ hg38

Exon Skipping

Gene
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70128959-70132300:+
Coord C1 exon
chr16:70128959-70129122
Coord A exon
chr16:70130423-70130544
Coord C2 exon
chr16:70132151-70132300
Length
122 bp
Sequences
Splice sites
3' ss Seq
CTTTCTTTACCTTGGAACAGGTG
3' ss Score
8.28
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
Exon sequences
Seq C1 exon
TGTTATAGGTATCCCTTCTGAGATCATCTCCCCCAAGAAAGTGGCCGAGCTTCACCATCTCCTCAACGTGCACGACCTGGTGGGGGCCATGCATGTTCCCGAGGATGCAGTGGTGTCTTCCGCTGACGTGGCTCTTGCCCTGGCAAGTGCTGCCTCCCAAAATG
Seq A exon
GTGTTCAGATCTATGACCGGACATCTGTTCTTCATGTAATGGTCAAAAAAGGTCAAGTTACTGGAGTGGAGACCGATAAAGGACAGATTGAATGCCAGTATTTTGTCAACTGTGCTGGCCAG
Seq C2 exon
CTATTGTGGATGCTGATGGAAGAATTTATATTCGGAACTGGCAGGGTGGCATCCTGTCTGGGGGCTTTGAGAAGAACCCGAAACCAATTTTCACTGAGGGCAAGAACCAGCTGGAGATTCAGAATCTACAGGAAGACTGGGATCACTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857_MULTIEX4-1/2=C1-C2
Average complexity
C2*
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=0.002
Domain overlap (PFAM):

C1:
PF0126619=DAO=FE(15.3=100)
A:
PF0126619=DAO=FE(11.1=100)
C2:
PF0126619=DAO=FE(13.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
CAAGAAAGTGGCCGAGCTTCA
R:
AATCTCCAGCTGGTTCTTGCC
Band lengths:
250-372
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains