HsaEX6090628 @ hg38
Exon Skipping
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114282516-114286511:+
Coord C1 exon
chr10:114282516-114282571
Coord A exon
chr10:114284863-114284970
Coord C2 exon
chr10:114285939-114286511
Length
108 bp
Sequences
Splice sites
3' ss Seq
AATGGGCATCTCTCTGATAGGCC
3' ss Score
7.1
5' ss Seq
GTGGTAGGT
5' ss Score
7.23
Exon sequences
Seq C1 exon
CTGGAAGAGAGTGTTCCTAACCCACCCTGCCACCTGCTACAGGACCACCTGCCCAG
Seq A exon
GCCCCTGTGACTCGCAGCCCTGCCAGAATGGAGGCACATGTGTTCCAGAAGGACTGGACGGCTACCAGTGCCTCTGCCCGCTGGCCTTTGGAGGGGAGGCTAACTGTG
Seq C2 exon
CCCTGAAGCTGAGCCTGGAATGCAGGGTCGACCTCCTCTTCCTGCTGGACAGCTCTGCGGGCACCACTCTGGACGGCTTCCTGCGGGCCAAAGTCTTCGTGAAGCGGTTTGTGCGGGCCGTGCTGAGCGAGGACTCTCGGGCCCGAGTGGGTGTGGCCACATACAGCAGGGAGCTGCTGGTGGCGGTGCCTGTGGGGGAGTACCAGGATGTGCCTGACCTGGTCTGGAGCCTCGATGGCATTCCCTTCCGTGGTGGCCCCACCCTGACGGGCAGTGCCTTGCGGCAGGCGGCAGAGCGTGGCTTCGGGAGCGCCACCAGGACAGGCCAGGACCGGCCACGTAGAGTGGTGGTTTTGCTCACTGAGTCACACTCCGAGGATGAGGTTGCGGGCCCAGCGCGTCACGCAAGGGCGCGAGAGCTGCTCCTGCTGGGTGTAGGCAGTGAGGCCGTGCGGGCAGAGCTGGAGGAGATCACAGGCAGCCCAAAGCATGTGATGGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816-'14-18,'14-16,15-18
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.122
Domain overlap (PFAM):
C1:
NO
A:
PF0000822=EGF=WD(100=83.8)
C2:
PF0009223=VWA=WD(100=89.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTGTTCCTAACCCACCCTG
R:
CATCCTGGTACTCCCCCACAG
Band lengths:
258-366
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains