HsaEX0070792 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61265122-61271760:-
Coord C1 exon
chr11:61271675-61271760
Coord A exon
chr11:61268922-61269018
Coord C2 exon
chr11:61265122-61265212
Length
97 bp
Sequences
Splice sites
3' ss Seq
GAAGTTCCTCCTTCCTCCAGGCA
3' ss Score
8.82
5' ss Seq
CAGGTAATC
5' ss Score
6.99
Exon sequences
Seq C1 exon
GCTGCTCTCTTGACGACAACGGGGTTGAGTTTCCGATTGGACAGATCTGGTCGCCTGGTGACCCCTGTGAGTTATGCATCTGCCAG
Seq A exon
GCAGATGGCTCGGTGAGCTGCAAGAGGACAGACTGTGTGGACTCCTGCCCTCACCCGATCCGGATCCCTGGACAGTGCTGCCCAGACTGTTCAGCAG
Seq C2 exon
CTGGGCTCAGTGGCCTGTTCCCCCGTGGACTGCCCCATCACCTGTACCTACCCTTTCCACCCTGACGGGGAGTGCTGCCCCGTGTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992_MULTIEX1-5/8=3-8
Average complexity
C3*
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=PU(46.6=93.1)
A:
PF0009313=VWC=PD(50.0=87.9)
C2:
PF0009313=VWC=PD(50.0=90.3)
Main Skipping Isoform:
ENST00000535710fB29916
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:
CTGCTCTCTTGACGACAACGG
R:
GCAGCACTCCCCGTCAGG
Band lengths:
163-260
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