HsaEX0070785 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61281786-61282905:-
Coord C1 exon
chr11:61282789-61282905
Coord A exon
chr11:61282478-61282536
Coord C2 exon
chr11:61281786-61281914
Length
59 bp
Sequences
Splice sites
3' ss Seq
CTCTTCCGCTCCTCTCCCAGATA
3' ss Score
10.5
5' ss Seq
TTGGTAAAT
5' ss Score
4.94
Exon sequences
Seq C1 exon
ACACTGACGAATGCCTAGGGACTCCCTGTCAGCAGAGATGTAAAAACAGCATTGGCAGCTACAAGTGTTCCTGTCGAACTGGCTTCCACCTTCATGGCAACCGGCACTCCTGTGTAG
Seq A exon
ATACACCCCAAGGATTCCTCTCTGCTCACCCATTTTCTTGGCTGCCTTTGCTCCCCTTG
Seq C2 exon
ATGTAAACGAGTGTCGGAGGCCATTGGAGAGGCGAGTCTGTCACCATTCCTGCCACAACACCGTGGGCAGCTTCCTATGCACATGCCGACCTGGCTTCAGGCTCCGAGCTGACCGCGTGTCCTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992_MULTIEX2-1/2=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NO
C2:
PF0764510=EGF_CA=WD(100=95.5)
Main Inclusion Isoform:
ENST00000301770fB7752
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
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:
ACAGCATTGGCAGCTACAAGT
R:
TGTTGTGGCAGGAATGGTGAC
Band lengths:
132-191
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