HsaEX0051445 @ hg38
Exon Skipping
Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98400102-98407997:-
Coord C1 exon
chr10:98407904-98407997
Coord A exon
chr10:98407582-98407655
Coord C2 exon
chr10:98400102-98400257
Length
74 bp
Sequences
Splice sites
3' ss Seq
TTCATCGGATTCGGTTTCAGGGT
3' ss Score
8.97
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
Exon sequences
Seq C1 exon
GCAGCGTACCTGCAGAGACTGGGGGTGAACACCGCCGTCTTCGAGAGGCGCCATGTGATCGGGGGTGCAGCTGTCACTGAGGAGATCATCCCAG
Seq A exon
GGTTTAAGTTCTCCCGCGCGTCCTACCTGCTCAGCCTGCTGAGGCCGCAGATTTACACTGATCTGGAGCTGAAG
Seq C2 exon
AAACATGGGCTGAGGCTTCATCTTCGAAACCCCTACTCCTTCACCCCCATGCTGGAAGAGGGTGCAGGCAGCAAGGTGCCCAGGTGCCTTCTGCTGGGCACAGACATGGCAGAAAACCAGAAGCAGATCGCCCAGTTCTCCCAGAAGGATGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943-'11-14,'11-9,12-14
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.056 A=0.000 C2=0.002
Domain overlap (PFAM):
C1:
PF134501=NAD_binding_8=FE(48.4=100)
A:
PF134501=NAD_binding_8=PD(32.8=84.0)
C2:
NO
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:
TGCAGCTGTCACTGAGGAGAT
R:
GAGAACTGGGCGATCTGCTTC
Band lengths:
169-243
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