HsaEX6002236 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61286314-61291353:-
Coord C1 exon
chr11:61291264-61291353
Coord A exon
chr11:61290799-61290927
Coord C2 exon
chr11:61286314-61286430
Length
129 bp
Sequences
Splice sites
3' ss Seq
TGGTGTGATGCCTGCTCTAGAAA
3' ss Score
5.4
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
CCCTCTGCTCCTTCGGCTGTGGGAGTGGCATCTGCATCGCTCCCAATGTCTGCTCCTGCCAGGATGGAGAGCAAGGGGCCACCTGCCCAG
Seq A exon
AAACCCATGGACCATGTGGGGAGTACGGCTGTGACCTTACCTGCAACCATGGAGGCTGTCAGGAGGTGGCCCGAGTGTGCCCCGTGGGCTTCTCGATGACGGAGACAGCTGTTGGCATCAGGTGTACAG
Seq C2 exon
ACATTGACGAATGTGTAACCTCCTCCTGCGAGGGCCACTGTGTGAACACAGAAGGTGGGTTTGTGTGCGAGTGTGGGCCGGGCATGCAGCTGTCTGCCGACCGCCACAGCTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992-'3-5,'3-3,4-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.048 A=0.067 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
CCCTCTGCTCCTTCGGCT
R:
CAGACAGCTGCATGCCCG
Band lengths:
186-315
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains