Special

HsaEX0051448 @ hg38

Exon Skipping

Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98390598-98391082:-
Coord C1 exon
chr10:98391010-98391082
Coord A exon
chr10:98390871-98390882
Coord C2 exon
chr10:98390598-98390754
Length
12 bp
Sequences
Splice sites
3' ss Seq
CAGCCTGTGTCCCCCTGCAGCCT
3' ss Score
8.52
5' ss Seq
AAGGTGAAA
5' ss Score
4.51
Exon sequences
Seq C1 exon
GAGTGGCTTCCTGAGGAGTTCCTGGAGAGAATCTCTCAGCTGGACACCCGGTCGCCTGTCACCAAGATCAATG
Seq A exon
CCTGGTCAGAAG
Seq C2 exon
TGGCCGTAGACAGGCTGCCCAGCTTCCTGGCGGCCCCCAATGCTCCCAGGGGCCAGCCGCTGCCCCATCACCAATGCTCCATCCACCTGAACTGTGAAGACACCCTCCTCCTTCATCAGGCCTTTGAAGATGCCATGGATGGCCTGCCTTCCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943-'32-31,'32-30,33-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.135
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:
ENST00000370575fB5649


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCGCCTGTCACCAAGATCAA
R:
GATGGAGCATTGGTGATGGGG
Band lengths:
106-118
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development