HsaEX6090629 @ hg38
Exon Skipping
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114278719-114284970:+
Coord C1 exon
chr10:114278719-114278851
Coord A exon
chr10:114282516-114282571
Coord C2 exon
chr10:114284863-114284970
Length
56 bp
Sequences
Splice sites
3' ss Seq
TCTGTTTCCTTGGATTGTAGCTG
3' ss Score
6.86
5' ss Seq
CAGGTATGG
5' ss Score
9.99
Exon sequences
Seq C1 exon
ACTGCAGGGTCGAGGCTCACCCCTGTGAGCACAGGACGCTGGAGATGGTCCGGGAGTTCGCTGGCAATGCCCCATGCTGGAGAGGATCGCGGCGGACCCTTGCGGTGCTGGCTGCACACTGTCCCTTCTACAG
Seq A exon
CTGGAAGAGAGTGTTCCTAACCCACCCTGCCACCTGCTACAGGACCACCTGCCCAG
Seq C2 exon
GCCCCTGTGACTCGCAGCCCTGCCAGAATGGAGGCACATGTGTTCCAGAAGGACTGGACGGCTACCAGTGCCTCTGCCCGCTGGCCTTTGGAGGGGAGGCTAACTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816-'12-16,'12-15,14-16=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0000822=EGF=WD(100=83.8)
Main Skipping Isoform:
ENST00000392982fB29899
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:
GGCTGCACACTGTCCCTTCTA
R:
CACAGTTAGCCTCCCCTCCAA
Band lengths:
132-188
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains