HsaEX6064668 @ hg19
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Coordinates
chr12:6094211-6101184:-
Coord C1 exon
chr12:6100985-6101184
Coord A exon
chr12:6094729-6094831
Coord C2 exon
chr12:6094211-6094285
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
CTATGTCATGCCCACCATCTCTGGTCTACAACCACTGTGAGCATGGCTGTCCCCGGCACTGTGATGGCAACGTGAGCTCCTGTGGGGACCATCCCTCCGAAGGCTGTTTCTGCCCTCCAGATAAAGTCATGTTGGAAGGCAGCTGTGTCCCTGAAGAGGCCTGCACTCAGTGCATTGGTGAGGATGGAGTCCAGCACCAG
Seq A exon
TTCCTGGAAGCCTGGGTCCCGGACCACCAGCCCTGTCAGATCTGCACATGCCTCAGCGGGCGGAAGGTCAACTGCACAACGCAGCCCTGCCCCACGGCCAAAG
Seq C2 exon
CTCCCACGTGTGGCCTGTGTGAAGTAGCCCGCCTCCGCCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'53-51,'53-50,54-51=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF087426=C8=PD(0.1=0.0),PF0182612=TIL=WD(100=77.6),PF0009313=VWC=PU(16.2=17.9)
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:
ATGTCATGCCCACCATCTCTG
R:
CAGCACTGGTCTGCATTCTGG
Band lengths:
256-359
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)