HsaEX0051443 @ hg38
Exon Skipping
Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98407904-98410958:-
Coord C1 exon
chr10:98410856-98410958
Coord A exon
chr10:98408455-98408584
Coord C2 exon
chr10:98407904-98407997
Length
130 bp
Sequences
Splice sites
3' ss Seq
GAGTACATTCTCTGTGCCAGGGA
3' ss Score
5.09
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
GACACAACGGACTGGTGGCTGTGAGTACCTCCCCACTTGATCCCACTTCACTGGCCCTGGGCGTGTGGCTCTCAGCAGCCTGGGAAGGAGTGTGAAGAAGCAG
Seq A exon
GGACCACTTAAACCCTGTCTAGGAACCAGCTCAGTTAATCTTCACAGCAGCCTTATGAAGTGGGTAAAGCCGGGACTACTTTCATCAGCCCCACTTTTGCATGTGAACAAACTGAGGCCAGACGGATCAG
Seq C2 exon
GCAGCGTACCTGCAGAGACTGGGGGTGAACACCGCCGTCTTCGAGAGGCGCCATGTGATCGGGGGTGCAGCTGTCACTGAGGAGATCATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.094 A=0.159 C2=0.056
Domain overlap (PFAM):
C1:
PF134501=NAD_binding_8=FE(9.4=100)
A:
NO
C2:
PF134501=NAD_binding_8=FE(48.4=100)
Main Inclusion Isoform:
ENST00000370575fB5647
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACACAACGGACTGGTGGC
R:
TGGGATGATCTCCTCAGTGACA
Band lengths:
196-326
Functional annotations
There are 0 annotated functions for this event
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