HsaEX6064674 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5968127-5971709:-
Coord C1 exon
chr12:5971599-5971709
Coord A exon
chr12:5969211-5969391
Coord C2 exon
chr12:5968127-5968167
Length
181 bp
Sequences
Splice sites
3' ss Seq
CTAACTCTGGTGCCCTGCAGGTC
3' ss Score
9.14
5' ss Seq
GTGGTAAGG
5' ss Score
8.37
Exon sequences
Seq C1 exon
GGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGTGGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTCCTGGAAGAGT
Seq A exon
GTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCTTTCAGCTGAGCTGTAAGACCTCAGCGTGCTGCCCAAGCTGTCGCTGTG
Seq C2 exon
AGCGCATGGAGGCCTGCATGCTCAATGGCACTGTCATTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'95-105,'95-101,106-105=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.036 A=0.016 C2=0.000
Domain overlap (PFAM):
C1:
PF0009313=VWC=PD(21.9=37.8)
A:
NO
C2:
PF0009313=VWC=PU(12.7=57.1)
Main Skipping Isoform:
ENST00000261405fB29920
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCCCTTTTGCTGCATCTTT
R:
ATGACAGTGCCATTGAGCATG
Band lengths:
138-319
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains