Special

HsaEX6089878 @ hg38

Exon Skipping

Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98384947-98388508:-
Coord C1 exon
chr10:98388354-98388508
Coord A exon
chr10:98387201-98387307
Coord C2 exon
chr10:98384947-98385067
Length
107 bp
Sequences
Splice sites
3' ss Seq
CTCTGTTTTTGGCACCCCAGTGT
3' ss Score
4.54
5' ss Seq
GGGGTATGT
5' ss Score
7.48
Exon sequences
Seq C1 exon
GCCTGTGATTGAGCTCTGCATCCCTTCCTCGCTGGACCCCACCCTGGCTCCCCCTGGCTGCCATGTAGTCTCCCTCTTCACTCAGTACATGCCCTATACGCTGGCTGGAGGCAAGGCCTGGGACGAGCAGGAGAGAGACGCTTATGCAGACAGAG
Seq A exon
TGTTTGATTGCATCGAGGTCTATGCCCCTGGCTTCAAGGACTCTGTGGTTGGCAGAGACATCCTCACACCACCAGATTTGGAGAGAATCTTCGGGCTTCCTGGAGGG
Seq C2 exon
AACATATTCCACTGCGCCATGTCCCTGGACCAGCTCTACTTCGCCCGCCCCGTGCCCCTGCATTCTGGCTACCGCTGCCCTCTCCAGGGCCTGTATCTCTGTGGAAGTGGGGCTCATCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943-'38-39,'38-38,42-39=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=0.042 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
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:
GCCTGTGATTGAGCTCTGCAT
R:
CACAGAGATACAGGCCCTGGA
Band lengths:
258-365
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains