HsaEX0070787 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61276593-61280717:-
Coord C1 exon
chr11:61280624-61280717
Coord A exon
chr11:61278394-61278476
Coord C2 exon
chr11:61276593-61276680
Length
83 bp
Sequences
Splice sites
3' ss Seq
CTCCTATTTGTCCTTCAAAGGCT
3' ss Score
8.09
5' ss Seq
CTGGTAAGC
5' ss Score
8.69
Exon sequences
Seq C1 exon
GACGGGAAGGTGACCTGTGAAAAGGTGAGGTGTGAAGCTGCTTGTTCCCACCCAATTCCCTCCAGAGATGGTGGGTGCTGCCCATCGTGCACAG
Seq A exon
GCTGTTTTCACAGTGGTGTCGTCCGAGCTGAAGGGGATGTGTTTTCACCTCCCAATGAGAACTGCACCGTCTGTGTCTGTCTG
Seq C2 exon
GCTGGAAACGTGTCCTGCATCTCTCCTGAGTGTCCTTCTGGCCCCTGTCAGACCCCCCCACAGACGGATTGCTGTACTTGTGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992_CASSETTE1
Average complexity
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:
PF0009313=VWC=PD(52.7=90.6)
A:
PF0009313=VWC=PU(47.3=92.9)
C2:
PF0009313=VWC=PD(49.1=90.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGGAAGGTGACCTGTGAAAA
R:
GTACAGCAATCCGTCTGTGGG
Band lengths:
169-252
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