HsaEX0070790 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61268922-61276680:-
Coord C1 exon
chr11:61276593-61276680
Coord A exon
chr11:61273199-61273316
Coord C2 exon
chr11:61268922-61269018
Length
118 bp
Sequences
Splice sites
3' ss Seq
GTGCCTGGGCTCTCTTCCAGAAT
3' ss Score
7.72
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GCTGGAAACGTGTCCTGCATCTCTCCTGAGTGTCCTTCTGGCCCCTGTCAGACCCCCCCACAGACGGATTGCTGTACTTGTGTTCCAG
Seq A exon
AATGGGGAGGTGGAGTGCTCCTTCATGCCCTGCCCTGAGCTGGCCTGCCCCCGAGAAGAGTGGCGGCTGGGCCCTGGGCAGTGTTGCTTCACCTGCCAGGAGCCCACACCCTCGACAG
Seq C2 exon
GCAGATGGCTCGGTGAGCTGCAAGAGGACAGACTGTGTGGACTCCTGCCCTCACCCGATCCGGATCCCTGGACAGTGCTGCCCAGACTGTTCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992_MULTIEX1-2/8=C1-5
Average complexity
C3*
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(49.1=90.0)
A:
PF0009313=VWC=PD(52.5=77.5)
C2:
PF0009313=VWC=PD(50.0=87.9)
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:
AACGTGTCCTGCATCTCTCCT
R:
CTGCTGAACAGTCTGGGCAG
Band lengths:
179-297
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