HsaEX0051437 @ hg38
Exon Skipping
Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98407904-98415184:-
Coord C1 exon
chr10:98415009-98415184
Coord A exon
chr10:98410939-98410958
Coord C2 exon
chr10:98407904-98407997
Length
20 bp
Sequences
Splice sites
3' ss Seq
CCTGTCCCGTTTTGTTGCAGGAC
3' ss Score
11.75
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
CCAATCGCTAGCAAACTCCCTGCCTAGCAAGGCCCAGCCTGGGGCAGAAATGGCTGCAAGTGGCCGAGGTCTCTGCAAGGCTGTGGCCGCCTCTCCCTTCCCGGCGTGGAGACGAGATAACACGGAAGCCAGGGGAGGTCTGAAGCCTGAGTATGATGCGGTGGTGATAGGAGCAG
Seq A exon
GACACAACGGACTGGTGGCT
Seq C2 exon
GCAGCGTACCTGCAGAGACTGGGGGTGAACACCGCCGTCTTCGAGAGGCGCCATGTGATCGGGGGTGCAGCTGTCACTGAGGAGATCATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943-'0-7,'0-4,5-7
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=0.094 C2=0.056
Domain overlap (PFAM):
C1:
PF134501=NAD_binding_8=PU(6.2=9.3)
A:
PF134501=NAD_binding_8=FE(9.4=100)
C2:
PF134501=NAD_binding_8=FE(48.4=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGAGTATGATGCGGTGGTG
R:
ATCTCCTCAGTGACAGCTGCA
Band lengths:
117-137
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