HsaEX0046389 @ hg38
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172562220-172564687:+
Coord C1 exon
chr2:172562220-172562291
Coord A exon
chr2:172562741-172562800
Coord C2 exon
chr2:172564503-172564687
Length
60 bp
Sequences
Splice sites
3' ss Seq
AAACATTTTTTAAAACACAGAAG
3' ss Score
1.76
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
GTATATCCAGAGTCTTCAGGAGCTTCTTGATTTTAAGGACAAAAGTGCTGAGGATGCTAAAGCTATTTATGA
Seq A exon
AAGGCCTAGAAGAACATGGTTGCAGGTCTCTAGTTTATGCTGTATGGCCTGCAAGATGAT
Seq C2 exon
CTTTACAGATACTGTGATACGGATCAGAAACCGACACAATGATGTCATTCCCACAATGGCCCAGGGTGTGATTGAATACAAGGAGAGCTTTGGGGTGGATCCTGTCACCAGCCAGAATGTTCAGTACTTTTTGGATCGATTCTACATGAGTCGCATTTCAATTAGAATGTTACTCAATCAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX1-2/8=1-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF104364=BCDHK_Adom3=FE(14.4=100)
A:
PF104364=BCDHK_Adom3=FE(10.7=100)
C2:
PF104364=BCDHK_Adom3=PD(8.3=7.9),PF104364=BCDHK_Adom3=FE(71.3=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
GGACAAAAGTGCTGAGGATGCT
R:
ATCCACCCCAAAGCTCTCCTT
Band lengths:
136-196
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