HsaEX0070746 @ hg38
Exon Skipping
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114288938-114291513:+
Coord C1 exon
chr10:114288938-114289489
Coord A exon
chr10:114290240-114290365
Coord C2 exon
chr10:114291218-114291513
Length
126 bp
Sequences
Splice sites
3' ss Seq
TATGGTGTTCTCCATTGTAGAAG
3' ss Score
9.04
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
Exon sequences
Seq C1 exon
AGTAGGGCCCGAGAATTTTGCTCAGATGCAGAGCTTTGTGAGAAGCTGTGCCCTCCAGTTTGAGGTGAACCCTGACGTGACACAGGTCGGCCTGGTGGTGTATGGCAGCCAGGTGCAGACTGCCTTCGGGCTGGACACCAAACCCACCCGGGCTGCGATGCTGCGGGCCATTAGCCAGGCCCCCTACCTAGGTGGGGTGGGCTCAGCCGGCACCGCCCTGCTGCACATCTATGACAAAGTGATGACCGTCCAGAGGGGTGCCCGGCCTGGTGTCCCCAAAGCTGTGGTGGTGCTCACAGGCGGGAGAGGCGCAGAGGATGCAGCCGTTCCTGCCCAGAAGCTGAGGAACAATGGCATCTCTGTCTTGGTCGTGGGCGTGGGGCCTGTCCTAAGTGAGGGTCTGCGGAGGCTTGCAGGTCCCCGGGATTCCCTGATCCACGTGGCAGCTTACGCCGACCTGCGGTACCACCAGGACGTGCTCATTGAGTGGCTGTGTGGAG
Seq A exon
AAGCCAAGCAGCCAGTCAACCTCTGCAAACCCAGCCCGTGCATGAATGAGGGCAGCTGCGTCCTGCAGAATGGGAGCTACCGCTGCAAGTGTCGGGATGGCTGGGAGGGCCCCCACTGCGAGAACC
Seq C2 exon
GATTCTTGAGACGCCCCTGAGGCACATGGCTCCCGTGCAGGAGGGCAGCAGCCGTACCCCTCCCAGCAACTACAGAGAAGGCCTGGGCACTGAAATGGTGCCTACCTTCTGGAATGTCTGTGCCCCAGGTCCTTAGAATGTCTGCTTCCCGCCGTGGCCAGGACCACTATTCTCACTGAGGGAGGAGGATGTCCCAACTGCAGCCATGCTGCTTAGAGACAAGAAAGCAGCTGATGTCACCCACAAACGATGTTGTTGAAAAGTTTTGATGTGTAAGTAAATACCCACTTTCTGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.021 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=93.0)
A:
PF0000822=EGF=WD(100=72.1)
C2:
NO
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:
GCCTGTCCTAAGTGAGGGTCT
R:
GGGCACAGACATTCCAGAAGG
Band lengths:
244-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development