HsaEX6089875 @ hg38
Exon Skipping
Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98407582-98410958:-
Coord C1 exon
chr10:98410613-98410958
Coord A exon
chr10:98407904-98407997
Coord C2 exon
chr10:98407582-98407655
Length
94 bp
Sequences
Splice sites
3' ss Seq
TGTGCTGCCCCACTTCCCAGGCA
3' ss Score
8.62
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GACACAACGGACTGGTGGCTGTGAGTACCTCCCCACTTGATCCCACTTCACTGGCCCTGGGCGTGTGGCTCTCAGCAGCCTGGGAAGGAGTGTGAAGAAGCAGGTGGGATAAGGGCCTTGAGAGAGAAGGAAAAGGCAGCCTAGTCGATGCTCTCTGCTCTCCAGTGCTGACTGGGGGCTGGGTCGAATGCTCATCTGCAGCCAGCTGTGGACATCACAGGCTCCTTTCCTCCCCTTCCCCTAATGGGGAAAGGTGGTTTCCCCATGGCCTGTGAGGGAGTCAGGGAGCTTCCAGAAACAAGCTGACAAGGTGGGGAAGCATGTAACCAACACAGCATGAGAGCAG
Seq A exon
GCAGCGTACCTGCAGAGACTGGGGGTGAACACCGCCGTCTTCGAGAGGCGCCATGTGATCGGGGGTGCAGCTGTCACTGAGGAGATCATCCCAG
Seq C2 exon
GGTTTAAGTTCTCCCGCGCGTCCTACCTGCTCAGCCTGCTGAGGCCGCAGATTTACACTGATCTGGAGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943-'8-9,'8-7,11-9=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.094 A=0.056 C2=0.000
Domain overlap (PFAM):
C1:
PF134501=NAD_binding_8=FE(9.4=100)
A:
PF134501=NAD_binding_8=FE(48.4=100)
C2:
PF134501=NAD_binding_8=PD(32.8=84.0)
Main Skipping Isoform:
ENST00000370575fB5648
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:
TTCCTCCCCTTCCCCTAATGG
R:
CAGTGTAAATCTGCGGCCTCA
Band lengths:
180-274
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains