HsaEX0070793 @ hg19
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:26487]
Coordinates
chr11:61032594-61036490:-
Coord C1 exon
chr11:61036394-61036490
Coord A exon
chr11:61034934-61035016
Coord C2 exon
chr11:61032594-61032684
Length
83 bp
Sequences
Splice sites
3' ss Seq
GCGCATGCTCTCTCTGGCAGGCT
3' ss Score
7.75
5' ss Seq
CTGGTATGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
GCAGATGGCTCGGTGAGCTGCAAGAGGACAGACTGTGTGGACTCCTGCCCTCACCCGATCCGGATCCCTGGACAGTGCTGCCCAGACTGTTCAGCAG
Seq A exon
GCTGCACCTACACAGGCAGAATCTTCTATAACAACGAGACCTTCCCGTCTGTGCTGGACCCATGTCTGAGCTGCATCTGCCTG
Seq C2 exon
CTGGGCTCAGTGGCCTGTTCCCCCGTGGACTGCCCCATCACCTGTACCTACCCTTTCCACCCTGACGGGGAGTGCTGCCCCGTGTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992_MULTIEX1-7/7=6-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0009313=VWC=PD(50.0=87.9)
A:
PF0009313=VWC=PU(46.4=92.9)
C2:
PF0009313=VWC=PD(50.0=90.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGGTGAGCTGCAAGAGGA
R:
GCAGCACTCCCCGTCAGG
Band lengths:
167-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)