HsaEX0046380 @ hg38
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172566856-172568817:+
Coord C1 exon
chr2:172566856-172566933
Coord A exon
chr2:172567200-172567259
Coord C2 exon
chr2:172568741-172568817
Length
60 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTATTTTCTGTTTAGTCA
3' ss Score
6.55
5' ss Seq
AATGTAAGA
5' ss Score
5.55
Exon sequences
Seq C1 exon
ATGGCTATGAAAATGCTAGGCGTCTGTGTGATTTGTATTATATTAACTCTCCCGAACTAGAACTTGAAGAACTAAATG
Seq A exon
TCATAGAAAGAAAATGATACCAAGAAAGTTACATTTGACTTTTACATGCACTTCACTAAT
Seq C2 exon
CAAAATCACCAGGACAGCCAATACAAGTGGTTTATGTACCATCCCATCTCTATCACATGGTGTTTGAACTTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX1-7/8=6-8
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.048 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0251821=HATPase_c=PU(11.2=53.8)
Main Inclusion Isoform:
ENST00000392571fB5070
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:
TGGCTATGAAAATGCTAGGCGT
R:
CCATGTGATAGAGATGGGATGGT
Band lengths:
137-197
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