HsaEX6002242 @ hg38
Exon Skipping
Gene
ENSG00000167992 | VWCE
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:HGNC:26487]
Coordinates
chr11:61258286-61265038:-
Coord C1 exon
chr11:61264956-61265038
Coord A exon
chr11:61264487-61264577
Coord C2 exon
chr11:61258286-61259312
Length
91 bp
Sequences
Splice sites
3' ss Seq
GGTTCCTTCTGCTTCCCCAGCTG
3' ss Score
7.05
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
ACTGCAACTACGAGGGAAGGAAGGTGGCGAATGGCCAGGTGTTCACCTTGGATGATGAACCCTGCACCCGGTGCACGTGCCAG
Seq A exon
CTGGGAGAGGTGAGCTGTGAGAAGGTTCCCTGCCAGCGGGCCTGTGCCGACCCTGCCCTGCTTCCTGGGGACTGCTGCTCTTCCTGTCCAG
Seq C2 exon
ATTCCCTGTCTCCTCTGGAAGAAAAGCAGGGGCTCTCCCCTCACGGAAATGTGGCATTCAGCAAAGCTGGTCGGAGCCTGCATGGAGACACTGAGGCCCCTGTCAACTGTAGCTCCTGTCCTGGGCCCCCGACAGCATCACCCTCGAGGCCGGTGCTTCATCTCCTCCAGCTCCTTTTAAGAACGAACTTGATGAAAACACAGACTTTACCTACAAGCCCGGCAGGAGCTCATGGTCCACACTCACTCGCTTTGGGGCTGACAGCCACTTTCCCAGGGGAGCCTGGGGCCTCCCCTCGACTCTCACCAGGGCCTTCGACCCCTCCAGGAGCCCCCACTCTACCTCTAGCTTCCCCAGGGGCTCCTCAGCCACCTCCTGTGACTCCAGAGCGCTCGTTCTCAGCCTCTGGGGCCCAGATAGTGTCCAGGTGGCCTCCTCTGCCTGGCACCCTCCTGACGGAAGCTTCAGCACTTTCCATGATGGACCCCAGCCCCTCGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992-'39-40,'39-36,40-40=AN
Average complexity
A_S
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=0.816
Domain overlap (PFAM):
C1:
PF0009313=VWC=PU(46.4=92.9)
A:
PF0009313=VWC=PD(50.0=90.3)
C2:
NO
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:
AATGGCCAGGTGTTCACCTTG
R:
AGGAGCTACAGTTGACAGGGG
Band lengths:
171-262
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains