HsaEX0070793 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61265122-61269079:-
Coord C1 exon
chr11:61268922-61269079
Coord A exon
chr11:61267462-61267544
Coord C2 exon
chr11:61265122-61265212
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
GGCGGGGAGGCAGGGGCCGGTGTCACCGGTGGGGTCTTGGTGAAGTTCCTCCTTCCTCCAGGCAGATGGCTCGGTGAGCTGCAAGAGGACAGACTGTGTGGACTCCTGCCCTCACCCGATCCGGATCCCTGGACAGTGCTGCCCAGACTGTTCAGCAG
Seq A exon
GCTGCACCTACACAGGCAGAATCTTCTATAACAACGAGACCTTCCCGTCTGTGCTGGACCCATGTCTGAGCTGCATCTGCCTG
Seq C2 exon
CTGGGCTCAGTGGCCTGTTCCCCCGTGGACTGCCCCATCACCTGTACCTACCCTTTCCACCCTGACGGGGAGTGCTGCCCCGTGTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992-'34-33,'34-29,35-33
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
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGGTCTTGGTGAAGTTCCT
R:
TAGGTACAGGTGATGGGGCAG
Band lengths:
179-262
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