HsaEX0046392 @ hg38
Exon Skipping
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172564978-172570824:+
Coord C1 exon
chr2:172564978-172565073
Coord A exon
chr2:172566856-172566933
Coord C2 exon
chr2:172570726-172570824
Length
78 bp
Sequences
Splice sites
3' ss Seq
TTTGTTTTGATTCACACTAGATG
3' ss Score
7.36
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
Exon sequences
Seq C1 exon
CTTTATTGTTTGGTGGAAAAGGCAAAGGAAGTCCATCTCATCGAAAACACATTGGAAGCATAAATCCAAACTGCAATGTACTTGAAGTTATTAAAG
Seq A exon
ATGGCTATGAAAATGCTAGGCGTCTGTGTGATTTGTATTATATTAACTCTCCCGAACTAGAACTTGAAGAACTAAATG
Seq C2 exon
AATGCAATGAGAGCCACTATGGAACACCATGCCAACAGAGGTGTTTACCCCCCTATTCAAGTTCATGTCACGCTGGGTAATGAGGATTTGACTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX1-6/8=5-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.108 A=0.048 C2=0.004
Domain overlap (PFAM):
C1:
PF104364=BCDHK_Adom3=PD(13.2=66.7)
A:
NO
C2:
PF0251821=HATPase_c=FE(25.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGGAAAAGGCAAAGGAAGT
R:
TCCTCATTACCCAGCGTGACA
Band lengths:
172-250
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