HsaEX6064675 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5967486-5969391:-
Coord C1 exon
chr12:5969211-5969391
Coord A exon
chr12:5968127-5968167
Coord C2 exon
chr12:5967486-5967602
Length
41 bp
Sequences
Splice sites
3' ss Seq
TGCACTTTTCTCTCCCCCAGAGC
3' ss Score
11.71
5' ss Seq
GGGGTGAGC
5' ss Score
5.97
Exon sequences
Seq C1 exon
GTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCTTTCAGCTGAGCTGTAAGACCTCAGCGTGCTGCCCAAGCTGTCGCTGTG
Seq A exon
AGCGCATGGAGGCCTGCATGCTCAATGGCACTGTCATTGGG
Seq C2 exon
CCCGGGAAGACTGTGATGATCGATGTGTGCACGACCTGCCGCTGCATGGTGCAGGTGGGGGTCATCTCTGGATTCAAGCTGGAGTGCAGGAAGACCACCTGCAACCCCTGCCCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'106-106,'106-105,108-106=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=0.016 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0009313=VWC=PU(12.7=57.1)
C2:
PF0009313=VWC=FE(60.3=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:
CTGTAAGACCTCAGCGTGCTG
R:
GTCTTCCTGCACTCCAGCTTG
Band lengths:
133-174
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains