HsaEX6064664 @ hg19
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Coordinates
chr12:6103581-6120960:-
Coord C1 exon
chr12:6120783-6120960
Coord A exon
chr12:6105168-6105388
Coord C2 exon
chr12:6103581-6103773
Length
221 bp
Sequences
Splice sites
3' ss Seq
CTCTGCTTCTCTCTGTCCAGGCG
3' ss Score
9.91
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
CCCGGGGACGTCTGGACCTTGCCAGACCAGTGCCACACCGTGACTTGCCAGCCAGATGGCCAGACCTTGCTGAAGAGTCATCGGGTCAACTGTGACCGGGGGCTGAGGCCTTCGTGCCCTAACAGCCAGTCCCCTGTTAAAGTGGAAGAGACCTGTGGCTGCCGCTGGACCTGCCCCT
Seq A exon
GCGTGTGCACAGGCAGCTCCACTCGGCACATCGTGACCTTTGATGGGCAGAATTTCAAGCTGACTGGCAGCTGTTCTTATGTCCTATTTCAAAACAAGGAGCAGGACCTGGAGGTGATTCTCCATAATGGTGCCTGCAGCCCTGGAGCAAGGCAGGGCTGCATGAAATCCATCGAGGTGAAGCACAGTGCCCTCTCCGTCGAGCTGCACAGTGACATGGAG
Seq C2 exon
GTGACGGTGAATGGGAGACTGGTCTCTGTTCCTTACGTGGGTGGGAACATGGAAGTCAACGTTTATGGTGCCATCATGCATGAGGTCAGATTCAATCACCTTGGTCACATCTTCACATTCACTCCACAAAACAATGAGTTCCAACTGCAGCTCAGCCCCAAGACTTTTGCTTCAAAGACGTATGGTCTGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'48-47,'48-46,50-47=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=0.033 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0009420=VWD=PU(46.4=95.9)
C2:
PF0009420=VWD=FE(41.8=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:
GATGGCCAGACCTTGCTGAAG
R:
AAAAGTCTTGGGGCTGAGCTG
Band lengths:
292-513
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)