HsaEX6064661 @ hg19
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Coordinates
chr12:6122647-6125822:-
Coord C1 exon
chr12:6125682-6125822
Coord A exon
chr12:6125255-6125398
Coord C2 exon
chr12:6122647-6122811
Length
144 bp
Sequences
Splice sites
3' ss Seq
GATCTGTTCTCCATCCTCAGGGG
3' ss Score
9.55
5' ss Seq
ACAGTAAGA
5' ss Score
5.96
Exon sequences
Seq C1 exon
GGCCTCGTCTCACTCAGGTGTCAGTGCTGCAGTATGGAAGCATCACCACCATTGACGTGCCATGGAACGTGGTCCCGGAGAAAGCCCATTTGCTGAGCCTTGTGGACGTCATGCAGCGGGAGGGAGGCCCCAGCCAAATCG
Seq A exon
GGGATGCCTTGGGCTTTGCTGTGCGATACTTGACTTCAGAAATGCATGGTGCCAGGCCGGGAGCCTCAAAGGCGGTGGTCATCCTGGTCACGGACGTCTCTGTGGATTCAGTGGATGCAGCAGCTGATGCCGCCAGGTCCAACA
Seq C2 exon
GAGTGACAGTGTTCCCTATTGGAATTGGAGATCGCTACGATGCAGCCCAGCTACGGATCTTGGCAGGCCCAGCAGGCGACTCCAACGTGGTGAAGCTCCAGCGAATCGAAGACCTCCCTACCATGGTCACCTTGGGCAATTCCTTCCTCCACAAACTGTGCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'44-42,'44-41,45-42=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=FE(27.2=100)
A:
PF0009223=VWA=FE(27.7=100)
C2:
PF0009223=VWA=PD(25.4=78.6)
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:
CAGTGCTGCAGTATGGAAGCA
R:
ACCATGGTAGGGAGGTCTTCG
Band lengths:
247-391
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)