Special

HsaEX0051445 @ hg19

Exon Skipping

Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:23517]
Coordinates
chr10:100159859-100167754:-
Coord C1 exon
chr10:100167661-100167754
Coord A exon
chr10:100167339-100167412
Coord C2 exon
chr10:100159859-100160014
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_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.106 A=0.000 C2=0.000
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 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:
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