HsaEX6064674 @ hg19
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Coordinates
chr12:6077293-6080875:-
Coord C1 exon
chr12:6080765-6080875
Coord A exon
chr12:6078377-6078557
Coord C2 exon
chr12:6077293-6077333
Length
181 bp
Sequences
Splice sites
3' ss Seq
CTAACTCTGGTGCCCTGCAGGTC
3' ss Score
9.14
5' ss Seq
GTGGTAAGG
5' ss Score
8.37
Exon sequences
Seq C1 exon
GGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGTGGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTCCTGGAAGAGT
Seq A exon
GTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCTTTCAGCTGAGCTGTAAGACCTCAGCGTGCTGCCCAAGCTGTCGCTGTG
Seq C2 exon
AGCGCATGGAGGCCTGCATGCTCAATGGCACTGTCATTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'59-57,'59-56,60-57=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=0.054 A=0.016 C2=0.000
Domain overlap (PFAM):
C1:
PF0009313=VWC=PD(21.9=37.8)
A:
NO
C2:
PF0009313=VWC=PU(12.7=57.1)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTTCACTTACGTTCTGCATG
R:
GACAGTGCCATTGAGCATGCA
Band lengths:
146-327
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)