HsaEX0046388 @ hg38
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172558708-172564687:+
Coord C1 exon
chr2:172558708-172558849
Coord A exon
chr2:172562220-172562291
Coord C2 exon
chr2:172564503-172564687
Length
72 bp
Sequences
Splice sites
3' ss Seq
CCTATTGATCTGCATTTTAGGTA
3' ss Score
8.5
5' ss Seq
TGAGTAAGT
5' ss Score
8.82
Exon sequences
Seq C1 exon
GATCAGTGAATGCTTGTGAAAAGACCTCATTTATGTTTCTGCGGCAAGAGTTGCCTGTCAGACTGGCAAATATAATGAAAGAAATAAGTCTCCTTCCAGATAATCTTCTCAGGACACCATCCGTTCAATTGGTACAAAGCTG
Seq A exon
GTATATCCAGAGTCTTCAGGAGCTTCTTGATTTTAAGGACAAAAGTGCTGAGGATGCTAAAGCTATTTATGA
Seq C2 exon
CTTTACAGATACTGTGATACGGATCAGAAACCGACACAATGATGTCATTCCCACAATGGCCCAGGGTGTGATTGAATACAAGGAGAGCTTTGGGGTGGATCCTGTCACCAGCCAGAATGTTCAGTACTTTTTGGATCGATTCTACATGAGTCGCATTTCAATTAGAATGTTACTCAATCAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX1-1/8=C1-4
Average complexity
C1
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=FE(78.3=100),PF104364=BCDHK_Adom3=PU(2.3=4.2)
A:
PF104364=BCDHK_Adom3=FE(14.4=100)
C2:
PF104364=BCDHK_Adom3=PD(8.3=7.9),PF104364=BCDHK_Adom3=FE(71.3=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTTTCTGCGGCAAGAGTTG
R:
GGGCCATTGTGGGAATGACAT
Band lengths:
172-244
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