HsaEX0051440 @ hg38
Exon Skipping
Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98392942-98395143:-
Coord C1 exon
chr10:98394972-98395143
Coord A exon
chr10:98393483-98393552
Coord C2 exon
chr10:98392942-98393083
Length
70 bp
Sequences
Splice sites
3' ss Seq
GTGTTGCTTTGTGGATGTAGATG
3' ss Score
6.15
5' ss Seq
AAGGTGCCG
5' ss Score
5.74
Exon sequences
Seq C1 exon
GAGTGAGGACAACAGTGGCAGTGGCAGCAACAACAGCTGCCACTTAACAGAGCTCACCCAGTGAGCCAGGAACCGAGCCAGGCACATCACACACGATCCACTTAACCCTCAGAGCAACATCTGAGAACTGCGGTTCAGAGAAGGGAGTGTCTTGCCCAAAGCCACTCAGCTG
Seq A exon
ATGGGGAAGGATGGTAGCGGTCAAGGCTGACACCTGGATTTCTGTCGGAAACAGAACCTCCTGTTGAAAG
Seq C2 exon
GTATGTGCTGCTGCACCATGTGATGGGGGGCCTGGAGGGAATGCAGGGGGCCTGGGGCTACGTCCAGGGGGGCATGGGTGCCCTCTCTGATGCGATCGCAAGCTCAGCCACCACACATGGAGCAAGCATCTTCACTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943_MULTIEX1-3/10=2-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000370575fB5646
Main Skipping Isoform:
ENST00000370575fB23859
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACTGCGGTTCAGAGAAGGGA
R:
GATGCTTGCTCCATGTGTGGT
Band lengths:
177-247
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