HsaEX6064668 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5985045-5990968:-
Coord C1 exon
chr12:5990868-5990968
Coord A exon
chr12:5985563-5985665
Coord C2 exon
chr12:5985045-5985119
Length
103 bp
Sequences
Splice sites
3' ss Seq
GAACCTCGCTTTGCCCTCAGTTC
3' ss Score
7.36
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
TGGCCCTTTTGCTGCATCTTTTTTGGGCTGATTTGCTTGGGAGTCACTGAGTCATCAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA
Seq A exon
TTCCTGGAAGCCTGGGTCCCGGACCACCAGCCCTGTCAGATCTGCACATGCCTCAGCGGGCGGAAGGTCAACTGCACAACGCAGCCCTGCCCCACGGCCAAAG
Seq C2 exon
CTCCCACGTGTGGCCTGTGTGAAGTAGCCCGCCTCCGCCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'95-92,'95-91,96-92
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF0009313=VWC=FE(45.9=100)
C2:
PF0009313=VWC=FE(33.8=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:
TGGCCCTTTTGCTGCATCTTT
R:
CTCATACTCGGGGCAGCACT
Band lengths:
172-275
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains