HsaEX6064670 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5981786-5985119:-
Coord C1 exon
chr12:5985045-5985119
Coord A exon
chr12:5983150-5983254
Coord C2 exon
chr12:5981786-5981991
Length
105 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTTTCTGGCCCTCAGTGT
3' ss Score
9.48
5' ss Seq
GCGGTAAGG
5' ss Score
9.63
Exon sequences
Seq C1 exon
CTCCCACGTGTGGCCTGTGTGAAGTAGCCCGCCTCCGCCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTG
Seq A exon
TGTGTGACCCAGTGAGCTGTGACCTGCCCCCAGTGCCTCACTGTGAACGTGGCCTCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCG
Seq C2 exon
CCTGCAGGAAGGAGGAGTGCAAAAGAGTGTCCCCACCCTCCTGCCCCCCGCACCGTTTGCCCACCCTTCGGAAGACCCAGTGCTGTGATGAGTATGAGTGTGCCTGCAACTGTGTCAACTCCACAGTGAGCTGTCCCCTTGGGTACTTGGCCTCAACTGCCACCAATGACTGTGGCTGTACCACAACCACCTGCCTTCCCGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'95-104,'95-93,99-104=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0009313=VWC=FE(33.8=100)
A:
PF0009313=VWC=PD(1.4=2.8)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGATTTGCTTGGGAGTCA
R:
TACAATGACTTGCCTGCTCCC
Band lengths:
248-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains