HsaEX0046391 @ hg38
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172570726-172586388:+
Coord C1 exon
chr2:172570726-172570824
Coord A exon
chr2:172584603-172584637
Coord C2 exon
chr2:172586278-172586388
Length
35 bp
Sequences
Splice sites
3' ss Seq
TTTTCTGCTTATTTTCTCAGGAT
3' ss Score
9.5
5' ss Seq
AAGGTACAT
5' ss Score
7.87
Exon sequences
Seq C1 exon
AATGCAATGAGAGCCACTATGGAACACCATGCCAACAGAGGTGTTTACCCCCCTATTCAAGTTCATGTCACGCTGGGTAATGAGGATTTGACTGTGAAG
Seq A exon
GATAAATTTCTGGAAGTGACATTGTTGTGTGAAAG
Seq C2 exon
ATGAGTGACCGAGGAGGTGGCGTTCCTTTGAGGAAAATTGACAGACTTTTCAACTACATGTATTCAACTGCACCAAGACCTCGTGTTGAGACCTCCCGCGCAGTGCCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX3-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.004 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0251821=HATPase_c=FE(25.6=100)
A:
PF0251821=HATPase_c=PD(5.8=25.0)
C2:
PF0251821=HATPase_c=FE(28.8=100)
Main Inclusion Isoform:
ENST00000392571fB5072
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
TCAAGTTCATGTCACGCTGGG
R:
CGAGGTCTTGGTGCAGTTGAA
Band lengths:
126-161
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development