HsaEX0070809 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5996002-6013645:-
Coord C1 exon
chr12:6013481-6013645
Coord A exon
chr12:6012087-6012130
Coord C2 exon
chr12:5996002-5996222
Length
44 bp
Sequences
Splice sites
3' ss Seq
CTTATTTGTGTCTGTTGCAGGAT
3' ss Score
11.54
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GAGTGACAGTGTTCCCTATTGGAATTGGAGATCGCTACGATGCAGCCCAGCTACGGATCTTGGCAGGCCCAGCAGGCGACTCCAACGTGGTGAAGCTCCAGCGAATCGAAGACCTCCCTACCATGGTCACCTTGGGCAATTCCTTCCTCCACAAACTGTGCTCTG
Seq A exon
GATTTGTTAGGATTTGCATGGATGAGGATGGGAATGAGAAGAGG
Seq C2 exon
GCGTGTGCACAGGCAGCTCCACTCGGCACATCGTGACCTTTGATGGGCAGAATTTCAAGCTGACTGGCAGCTGTTCTTATGTCCTATTTCAAAACAAGGAGCAGGACCTGGAGGTGATTCTCCATAATGGTGCCTGCAGCCCTGGAGCAAGGCAGGGCTGCATGAAATCCATCGAGGTGAAGCACAGTGCCCTCTCCGTCGAGCTGCACAGTGACATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799_MULTIEX2-28/31=27-30
Average complexity
C3
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:
PF0009223=VWA=PD(25.4=78.6)
A:
NO
C2:
PF0009420=VWD=PU(46.4=95.9)
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:
GACTCCAACGTGGTGAAGCTC
R:
GCCCATCAAAGGTCACGATGT
Band lengths:
136-180
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