HsaEX6064664 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5993862-6011794:-
Coord C1 exon
chr12:6011617-6011794
Coord A exon
chr12:5996002-5996222
Coord C2 exon
chr12:5993862-5994203
Length
221 bp
Sequences
Splice sites
3' ss Seq
CTCTGCTTCTCTCTGTCCAGGCG
3' ss Score
9.91
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
CCCGGGGACGTCTGGACCTTGCCAGACCAGTGCCACACCGTGACTTGCCAGCCAGATGGCCAGACCTTGCTGAAGAGTCATCGGGTCAACTGTGACCGGGGGCTGAGGCCTTCGTGCCCTAACAGCCAGTCCCCTGTTAAAGTGGAAGAGACCTGTGGCTGCCGCTGGACCTGCCCCT
Seq A exon
GCGTGTGCACAGGCAGCTCCACTCGGCACATCGTGACCTTTGATGGGCAGAATTTCAAGCTGACTGGCAGCTGTTCTTATGTCCTATTTCAAAACAAGGAGCAGGACCTGGAGGTGATTCTCCATAATGGTGCCTGCAGCCCTGGAGCAAGGCAGGGCTGCATGAAATCCATCGAGGTGAAGCACAGTGCCCTCTCCGTCGAGCTGCACAGTGACATGGAG
Seq C2 exon
GGATCTGTGATGAGAACGGAGCCAATGACTTCATGCTGAGGGATGGCACAGTCACCACAGACTGGAAAACACTTGTTCAGGAATGGACTGTGCAGCGGCCAGGGCAGACGTGCCAGCCCATCCTGGAGGAGCAGTGTCTTGTCCCCGACAGCTCCCACTGCCAGGTCCTCCTCTTACCACTGTTTGCTGAATGCCACAAGGTCCTGGCTCCAGCCACATTCTATGCCATCTGCCAGCAGGACAGTTGCCACCAGGAGCAAGTGTGTGAGGTGATCGCCTCTTATGCCCACCTCTGTCGGACCAACGGGGTCTGCGTTGACTGGAGGACACCTGATTTCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799_MULTIEX2-30/31=29-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.033 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0009420=VWD=PU(46.4=95.9)
C2:
PF0009420=VWD=PD(10.5=13.9),PF087426=C8=WD(100=59.1)
Main Skipping Isoform:
NA
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:
AAGTGGAAGAGACCTGTGGCT
R:
CTCACACACTTGCTCCTGGTG
Band lengths:
308-529
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains