HsaEX1027551 @ hg38
Exon Skipping
Gene
ENSG00000067992 | PDK3
Description
pyruvate dehydrogenase kinase 3 [Source:HGNC Symbol;Acc:HGNC:8811]
Coordinates
chrX:24465221-24466461:+
Coord C1 exon
chrX:24465221-24465561
Coord A exon
chrX:24466012-24466149
Coord C2 exon
chrX:24466361-24466461
Length
138 bp
Sequences
Splice sites
3' ss Seq
TGTTCCTTTTCTGCTCTAAGGTG
3' ss Score
8.91
5' ss Seq
AGGGTCTAA
5' ss Score
-7.56
Exon sequences
Seq C1 exon
GCGTACGTGCAGCAACCGACTCCGCCCAGCGAGGCGGAGCCTAGGGAAGCCGCGGGCGGCCCGCCGCTGTCCTGGAGCTGCTGCTGCTGCTGCGGCGGCTGCACCGGCGGCGCCGAGGCCGAGATCGAGGCCGGGGTGCGCGCTTCGCAAACGTGCCCTATCCGTGCGGCTTGGCTGCGCCAGCCCTTGCGGCCACCCGGGCGTCTAGGCGGGTCTGTGCGCCGCCCGGGCGAGGATGCGGCTGTTCCGGTGGCTGCTGAAGCAGCCGGTGCCCAAGCAGATCGAGCGCTACTCGCGCTTTTCGCCGTCGCCGCTCTCCATCAAACAATTCCTGGACTTCG
Seq A exon
GTGTTGCTGTGTGGCTGGAGTGGCAGGACTCGAACTGTTGTCTTCATCAGGTTATGTTAAATCAGTTAGAGGCCTGGCCTGCAGACGCCTTAGATGCTTGGGAAGAGCGGACGTCTGGGATCCTAGCATCAGAGCAGG
Seq C2 exon
AAAACGAAGGAGCTGGTTGTGAAACACCTAAAAGTAAAACGCATGCATTGAGGTATCAGAATGGAACTCAGCATCCCTGGAGGAAAATCAAATCCAGCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067992-'0-2,'0-1,2-2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.043 C2=NA
Domain overlap (PFAM):
C1:
PF104364=BCDHK_Adom3=PU(6.7=30.6)
A:
PF104364=BCDHK_Adom3=FE(21.8=100)
C2:
NA
Main Inclusion Isoform:
ENST00000379162fB22258
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
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:
CAAACGTGCCCTATCCGTGC
R:
TCTGATACCTCAATGCATGCGT
Band lengths:
254-392
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains