Special

HsaEX0046394 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase kinase, isozyme 2 [Source:HGNC Symbol;Acc:8810]
Coordinates
chr17:48174787-48183433:+
Coord C1 exon
chr17:48174787-48174928
Coord A exon
chr17:48182735-48182806
Coord C2 exon
chr17:48183249-48183433
Length
72 bp
Sequences
Splice sites
3' ss Seq
CCCCTCCCGCCCCCACACAGGTA
3' ss Score
9.62
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
GATCCAGCAATGCCTGTGAGAAAACCTCCTTCACCTTCCTCAGGCAGGAGCTGCCTGTGCGCCTGGCCAACATCATGAAAGAGATCAACCTGCTTCCCGACCGAGTGCTGAGCACACCCTCCGTGCAGCTGGTGCAGAGCTG
Seq A exon
GTATGTCCAGAGCCTCCTGGACATCATGGAGTTCCTGGACAAGGATCCCGAGGACCATCGCACCCTGAGCCA
Seq C2 exon
GTTCACTGACGCCCTGGTCACCATCCGGAACCGGCACAACGACGTGGTGCCCACCATGGCACAAGGCGTGCTTGAGTACAAGGACACCTACGGCGATGACCCCGTCTCCAACCAGAACATCCAGTACTTCCTGGACCGCTTCTACCTCAGCCGCATCTCCATCCGCATGCTCATCAACCAGCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000005882_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.023 C2=0.000
Domain overlap (PFAM):

C1:
PF104364=BCDHK_Adom3=PU(17.1=95.7)
A:
PF104364=BCDHK_Adom3=PU(15.3=93.8)
C2:
PF104364=BCDHK_Adom3=PD(52.0=96.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGATCAACCTGCTTCCCGAC
R:
GATGTTCTGGTTGGAGACGGG
Band lengths:
183-255
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