HsaEX0070743 @ hg38
Exon Skipping
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114253651-114261295:+
Coord C1 exon
chr10:114253651-114253725
Coord A exon
chr10:114254915-114255048
Coord C2 exon
chr10:114261186-114261295
Length
134 bp
Sequences
Splice sites
3' ss Seq
GTCTGTCCCGCTCTCCCTAGTGA
3' ss Score
9.51
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
TGCCCCCATCTCTCCCTCTCCAGGAAGTCCATGTAAGCAAAGAAACCATCGGGAAGATTTCAGCTGCCAGCAAAA
Seq A exon
TGATGTGGTGCTCGGCTGCAGTGGACATCATGTTTCTGTTAGATGGGTCTAACAGCGTCGGGAAAGGGAGCTTTGAAAGGTCCAAGCACTTTGCCATCACAGTCTGTGACGGTCTGGACATCAGCCCCGAGAGG
Seq C2 exon
GTCAGAGTGGGAGCATTCCAGTTCAGTTCCACTCCTCATCTGGAATTCCCCTTGGATTCATTTTCAACCCAACAGGAAGTGAAGGCAAGAATCAAGAGGATGGTTTTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0009223=VWA=PU(20.9=80.0)
C2:
PF0009223=VWA=FE(20.9=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCCCATCTCTCCCTCTC
R:
ACCATCCTCTTGATTCTTGCCT
Band lengths:
178-312
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