HsaEX0046390 @ hg38
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172562220-172565073:+
Coord C1 exon
chr2:172562220-172562291
Coord A exon
chr2:172564503-172564687
Coord C2 exon
chr2:172564978-172565073
Length
185 bp
Sequences
Splice sites
3' ss Seq
TGACAGATGGGTTTGTTTAGCTT
3' ss Score
1.15
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
Exon sequences
Seq C1 exon
GTATATCCAGAGTCTTCAGGAGCTTCTTGATTTTAAGGACAAAAGTGCTGAGGATGCTAAAGCTATTTATGA
Seq A exon
CTTTACAGATACTGTGATACGGATCAGAAACCGACACAATGATGTCATTCCCACAATGGCCCAGGGTGTGATTGAATACAAGGAGAGCTTTGGGGTGGATCCTGTCACCAGCCAGAATGTTCAGTACTTTTTGGATCGATTCTACATGAGTCGCATTTCAATTAGAATGTTACTCAATCAGCACT
Seq C2 exon
CTTTATTGTTTGGTGGAAAAGGCAAAGGAAGTCCATCTCATCGAAAACACATTGGAAGCATAAATCCAAACTGCAATGTACTTGAAGTTATTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX1-4/8=1-5
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.108
Domain overlap (PFAM):
C1:
PF104364=BCDHK_Adom3=FE(14.4=100)
A:
PF104364=BCDHK_Adom3=PD(8.3=7.9),PF104364=BCDHK_Adom3=FE(71.3=100)
C2:
PF104364=BCDHK_Adom3=PD(13.2=66.7)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTATATCCAGAGTCTTCAGGAGCT
R:
TAACTTCAAGTACATTGCAGTTTGGA
Band lengths:
162-347
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