Special

HsaEX0051446 @ hg19

Exon Skipping

Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:23517]
Coordinates
chr10:100146958-100155209:-
Coord C1 exon
chr10:100155148-100155209
Coord A exon
chr10:100154953-100155050
Coord C2 exon
chr10:100146958-100147064
Length
98 bp
Sequences
Splice sites
3' ss Seq
TCTGCTGTTGTGCTGTCCAGGTG
3' ss Score
8.7
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
GCCGCATCCTGGGAGCCCAGCTTCCCCGATATTATGAGGTCCTCACAGCTCCCATTACCAAG
Seq A exon
GTGCTGGATCAGTGGTTCGAGTCTGAGCCTTTAAAAGCCACTCTAGCCACAGATGCAGTGATTGGAGCCATGACAAGTCCCCACACTCCGGGGAGTGG
Seq C2 exon
TGTTTGATTGCATCGAGGTCTATGCCCCTGGCTTCAAGGACTCTGTGGTTGGCAGAGACATCCTCACACCACCAGATTTGGAGAGAATCTTCGGGCTTCCTGGAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943_MULTIEX1-1/7=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0126619=DAO=PU(25.2=93.9)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
AGCCCAGCTTCCCCGATATTA
R:
TCCAGGAAGCCCGAAGATTCT
Band lengths:
153-251
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