HsaEX0046434 @ hg38
Exon Skipping
Gene
ENSG00000090857 | PDPR
Description
pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:HGNC:30264]
Coordinates
chr16:70148464-70162537:+
Coord C1 exon
chr16:70148464-70148553
Coord A exon
chr16:70153391-70153573
Coord C2 exon
chr16:70156475-70162537
Length
183 bp
Sequences
Splice sites
3' ss Seq
CTTTCTGTCTCTTCCTATAGTAC
3' ss Score
10.35
5' ss Seq
AAGGTACTG
5' ss Score
8.56
Exon sequences
Seq C1 exon
GAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAG
Seq A exon
TACGCCCTGCATGTATACAATGAAGTGATGAGTGTTGGCCAGAAATACGGAATCCGGAATGCTGGGTATTACGCTCTTCGCAGTCTCCGAATTGAGAAGTTTTTTGCCTTCTGGGGTCAGGATATAAATAACCTCACCACGCCCCTGGAATGTGGACGAGAGTCTCGGGTGAAATTAGAGAAG
Seq C2 exon
GGCATGGATTTCATTGGTCGCGACGCCCTCCTGCAGCAGAAGCAGAATGGAGTGTATAAACGCCTCACCATGTTCATCCTGGACGACCATGATTCAGACCTAGACCTTTGGCCTTGGTGGGGAGAGCCCATTTACCGGAATGGGCAGTATGTTGGCAAGACCACCAGCAGTGCCTACAGCTACAGCCTGGAGCGCCACGTTTGCCTGGGCTTTGTGCACAATTTTTCTGAGGACACGGGGGAAGAGCAAGTGGTGACAGCAGATTTCATCAACCGGGGAGAGTATGAGATTGACATCGCGGGATACCGCTTCCAGGCCAAGGCCAAGCTCTACCCTGTCGCCTCCCTCTTCACCCAGAAGCGCCGAAAGGATGACATGGAGCTGAGTGACTTACATGGGAAGTGATGCCACCAGGGCAGCCTCACCTCCTCCCCATCATCTTGTCCTAGAGTGGGCGTCACCTTGGAGCTTCTCTTCCTTCCGCCTCTGTTCCTCTTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090857_MULTIEX1-3/3=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.007
Domain overlap (PFAM):
C1:
PF0157116=GCV_T=FE(13.4=100)
A:
PF0157116=GCV_T=PD(24.9=88.5)
C2:
PF086696=GCV_T_C=WD(100=80.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGTGGGCTATGCAAATGGG
R:
GTCTTGCCAACATACTGCCCA
Band lengths:
245-428
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
[CRISPR screen]. This alternative exon is implicated in cell fitness by a CRISPR-based exon deletion phenotypic screen in RPE-1 cells.
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