HsaEX0046393 @ hg38
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172566856-172570824:+
Coord C1 exon
chr2:172566856-172566933
Coord A exon
chr2:172568741-172568817
Coord C2 exon
chr2:172570726-172570824
Length
77 bp
Sequences
Splice sites
3' ss Seq
TTTTCTCTTCTGCTCTGTAGCAA
3' ss Score
8
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
ATGGCTATGAAAATGCTAGGCGTCTGTGTGATTTGTATTATATTAACTCTCCCGAACTAGAACTTGAAGAACTAAATG
Seq A exon
CAAAATCACCAGGACAGCCAATACAAGTGGTTTATGTACCATCCCATCTCTATCACATGGTGTTTGAACTTTTCAAG
Seq C2 exon
AATGCAATGAGAGCCACTATGGAACACCATGCCAACAGAGGTGTTTACCCCCCTATTCAAGTTCATGTCACGCTGGGTAATGAGGATTTGACTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX1-8/8=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.048 A=0.000 C2=0.004
Domain overlap (PFAM):
C1:
NO
A:
PF0251821=HATPase_c=PU(11.2=53.8)
C2:
PF0251821=HATPase_c=FE(25.6=100)
Main Skipping Isoform:
ENST00000392571fB5070
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTATGAAAATGCTAGGCGT
R:
GTCAAATCCTCATTACCCAGCGT
Band lengths:
169-246
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