Special

HsaEX0051437 @ hg19

Exon Skipping

Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:23517]
Coordinates
chr10:100167661-100174941:-
Coord C1 exon
chr10:100174766-100174941
Coord A exon
chr10:100170696-100170715
Coord C2 exon
chr10:100167661-100167754
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-'0-6,'0-3,5-6
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.060 A=0.160 C2=0.106
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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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