Special

HsaEX0046398 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase kinase, isozyme 3 [Source:HGNC Symbol;Acc:8811]
Coordinates
chrX:24516946-24537127:+
Coord C1 exon
chrX:24516946-24517017
Coord A exon
chrX:24521444-24521628
Coord C2 exon
chrX:24537050-24537127
Length
185 bp
Sequences
Splice sites
3' ss Seq
TTTGTTTCCCTCTCACACAGCTT
3' ss Score
8.52
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GTATATGCAGAGTTTTCTTGAACTTTTAGAATATGAAAATAAGAGCCCTGAGGATCCACAGGTCTTGGATAA
Seq A exon
CTTTCTACAAGTTCTGATTAAAGTCAGAAATAGACACAATGATGTGGTTCCTACAATGGCACAAGGAGTGATTGAATACAAGGAGAAGTTTGGGTTTGATCCTTTCATTAGCACTAACATCCAATATTTTCTGGATCGGTTTTATACCAACCGCATCTCTTTCCGCATGCTTATTAATCAGCACA
Seq C2 exon
ATGCATATGAAACAGCCAAGATGCTGTGTGAACAGTATTACCTGGTAGCTCCAGAGCTGGAAGTTGAAGAATTCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067992_MULTIEX1-3/4=2-C2
Average complexity
C3*
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:
PF104364=BCDHK_Adom3=FE(14.5=100)
A:
PF104364=BCDHK_Adom3=FE(37.6=100)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGAGTTTTCTTGAACTTTTAGA
R:
TGAATTCTTCAACTTCCAGCTCTGG
Band lengths:
142-327
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development