HsaEX0046438 @ hg38
Exon Skipping
Gene
ENSG00000090857 | PDPR
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70132151-70139023:+
Coord C1 exon
chr16:70132151-70132300
Coord A exon
chr16:70136194-70136386
Coord C2 exon
chr16:70138899-70139023
Length
193 bp
Sequences
Splice sites
3' ss Seq
GTTTTGTTGTCATTGCTCAGAGC
3' ss Score
6.32
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
CTATTGTGGATGCTGATGGAAGAATTTATATTCGGAACTGGCAGGGTGGCATCCTGTCTGGGGGCTTTGAGAAGAACCCGAAACCAATTTTCACTGAGGGCAAGAACCAGCTGGAGATTCAGAATCTACAGGAAGACTGGGATCACTTTG
Seq A exon
AGCCTCTGTTGAGTTCCCTTCTGAGGAGGATGCCAGAATTAGAGACTCTGGAGATCATGAAGTTGGTGAACTGCCCAGAGACCTTCACACCAGACATGAGGTGCATCATGGGCGAGTCTCCTGCAGTGCAGGGCTACTTTGTCCTGGCAGGAATGAACTCTGCTGGCCTTTCATTTGGTGGAGGAGCCGGAAA
Seq C2 exon
GTACCTTGCCGAATGGATGGTACATGGTTATCCCTCAGAAAACGTTTGGGAATTGGACCTGAAACGTTTTGGAGCCCTCCAGAGCAGCCGCACCTTTCTGCGCCACCGGGTCATGGAAGTCATGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857-'24-30,'24-25,28-30
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0126619=DAO=FE(13.9=100)
A:
PF0126619=DAO=FE(17.8=100)
C2:
PF0126619=DAO=PD(1.4=11.6)
Main Skipping Isoform:
ENST00000288050fB22273
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATTCGGAACTGGCAGGGTG
R:
ATGACTTCCATGACCCGGTGG
Band lengths:
246-439
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