HsaEX0046384 @ hg19
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase, isozyme 1 [Source:HGNC Symbol;Acc:8809]
Coordinates
chr2:173427469-173429415:+
Coord C1 exon
chr2:173427469-173427528
Coord A exon
chr2:173428780-173428858
Coord C2 exon
chr2:173429231-173429415
Length
79 bp
Sequences
Splice sites
3' ss Seq
CTTCTCTCTTTGAACCCTAGGGA
3' ss Score
9.21
5' ss Seq
GAGGCAAGT
5' ss Score
3.32
Exon sequences
Seq C1 exon
AAGGCCTAGAAGAACATGGTTGCAGGTCTCTAGTTTATGCTGTATGGCCTGCAAGATGAT
Seq A exon
GGAATAGGTCCAAAACAGGCAGGCTTTATTGGCTCATTCATCTTGATTCCTTGCAGAGCAGAGCAGGTGTTCTCTAGAG
Seq C2 exon
CTTTACAGATACTGTGATACGGATCAGAAACCGACACAATGATGTCATTCCCACAATGGCCCAGGGTGTGATTGAATACAAGGAGAGCTTTGGGGTGGATCCTGTCACCAGCCAGAATGTTCAGTACTTTTTGGATCGATTCTACATGAGTCGCATTTCAATTAGAATGTTACTCAATCAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256-'6-12,'6-11,7-12
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF104364=BCDHK_Adom3=FE(10.7=100)
A:
PF104364=BCDHK_Adom3=PD(1.6=33.3)
C2:
PF104364=BCDHK_Adom3=PD(8.3=7.9),PF104364=BCDHK_Adom3=FE(71.3=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
AGGCCTAGAAGAACATGGTTGC
R:
GTGACAGGATCCACCCCAAAG
Band lengths:
167-246
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)