HsaEX1027585 @ hg38
Exon Skipping
Gene
ENSG00000090857 | PDPR
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70130423-70132300:+
Coord C1 exon
chr16:70130423-70130544
Coord A exon
chr16:70131302-70131419
Coord C2 exon
chr16:70132151-70132300
Length
118 bp
Sequences
Splice sites
3' ss Seq
ATCAACCTGTCCATTTGTAGTGG
3' ss Score
6.45
5' ss Seq
CAAGTGAGG
5' ss Score
5.85
Exon sequences
Seq C1 exon
GTGTTCAGATCTATGACCGGACATCTGTTCTTCATGTAATGGTCAAAAAAGGTCAAGTTACTGGAGTGGAGACCGATAAAGGACAGATTGAATGCCAGTATTTTGTCAACTGTGCTGGCCAG
Seq A exon
TGGGCATACGAGCTGGGTCTGTCCAACGAGGAGCCGGTTAGTATCCCGCTACATGCCTGCGAACACTTCTACCTCCTGACTCGCCCCTTGGAGACCCCTCTGCAGAGCAGCACACCAA
Seq C2 exon
CTATTGTGGATGCTGATGGAAGAATTTATATTCGGAACTGGCAGGGTGGCATCCTGTCTGGGGGCTTTGAGAAGAACCCGAAACCAATTTTCACTGAGGGCAAGAACCAGCTGGAGATTCAGAATCTACAGGAAGACTGGGATCACTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857_MULTIEX4-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.050 C2=0.002
Domain overlap (PFAM):
C1:
PF0126619=DAO=FE(11.1=100)
A:
PF0126619=DAO=FE(10.9=100)
C2:
PF0126619=DAO=FE(13.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTTCAGATCTATGACCGGACA
R:
TGAATCTCCAGCTGGTTCTTGC
Band lengths:
243-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains