HsaEX0070784 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61264956-61267544:-
Coord C1 exon
chr11:61267462-61267544
Coord A exon
chr11:61265122-61265212
Coord C2 exon
chr11:61264956-61265038
Length
91 bp
Sequences
Splice sites
3' ss Seq
GTGTTTTCTGTGTCCTGCAGCTG
3' ss Score
11.69
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GCTGCACCTACACAGGCAGAATCTTCTATAACAACGAGACCTTCCCGTCTGTGCTGGACCCATGTCTGAGCTGCATCTGCCTG
Seq A exon
CTGGGCTCAGTGGCCTGTTCCCCCGTGGACTGCCCCATCACCTGTACCTACCCTTTCCACCCTGACGGGGAGTGCTGCCCCGTGTGCCGAG
Seq C2 exon
ACTGCAACTACGAGGGAAGGAAGGTGGCGAATGGCCAGGTGTTCACCTTGGATGATGAACCCTGCACCCGGTGCACGTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992_MULTIEX1-8/8=6-C2
Average complexity
C1
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:
PF0009313=VWC=PU(46.4=92.9)
A:
PF0009313=VWC=PD(50.0=90.3)
C2:
PF0009313=VWC=PU(46.4=92.9)
Main Skipping Isoform:
ENST00000335613fB29917
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
CCTACACAGGCAGAATCTTCT
R:
GGTGCAGGGTTCATCATCCAA
Band lengths:
145-236
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development