HsaEX0046397 @ hg38
Exon Skipping
Gene
ENSG00000067992 | PDK3
Description
pyruvate dehydrogenase kinase 3 [Source:HGNC Symbol;Acc:HGNC:8811]
Coordinates
chrX:24465221-24519010:+
Coord C1 exon
chrX:24465221-24465561
Coord A exon
chrX:24498829-24498900
Coord C2 exon
chrX:24518933-24519010
Length
72 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTCCTTTTAGGTA
3' ss Score
13.95
5' ss Seq
TAAGTAAGT
5' ss Score
8.07
Exon sequences
Seq C1 exon
GCGTACGTGCAGCAACCGACTCCGCCCAGCGAGGCGGAGCCTAGGGAAGCCGCGGGCGGCCCGCCGCTGTCCTGGAGCTGCTGCTGCTGCTGCGGCGGCTGCACCGGCGGCGCCGAGGCCGAGATCGAGGCCGGGGTGCGCGCTTCGCAAACGTGCCCTATCCGTGCGGCTTGGCTGCGCCAGCCCTTGCGGCCACCCGGGCGTCTAGGCGGGTCTGTGCGCCGCCCGGGCGAGGATGCGGCTGTTCCGGTGGCTGCTGAAGCAGCCGGTGCCCAAGCAGATCGAGCGCTACTCGCGCTTTTCGCCGTCGCCGCTCTCCATCAAACAATTCCTGGACTTCG
Seq A exon
GTATATGCAGAGTTTTCTTGAACTTTTAGAATATGAAAATAAGAGCCCTGAGGATCCACAGGTCTTGGATAA
Seq C2 exon
ATGCATATGAAACAGCCAAGATGCTGTGTGAACAGTATTACCTGGTAGCTCCAGAGCTGGAAGTTGAAGAATTCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067992_MULTIEX1-3/7=C1-7
Average complexity
C3
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:
PF104364=BCDHK_Adom3=PU(6.7=30.6)
A:
PF104364=BCDHK_Adom3=FE(14.5=100)
C2:
NO
Main Skipping Isoform:
ENST00000379162fB22257
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTAGGCGGGTCTGTGCG
R:
CTGTTCACACAGCATCTTGGC
Band lengths:
173-245
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