HsaEX1043717 @ hg38
Exon Skipping
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114261186-114272934:+
Coord C1 exon
chr10:114261186-114261295
Coord A exon
chr10:114271104-114271228
Coord C2 exon
chr10:114272740-114272934
Length
125 bp
Sequences
Splice sites
3' ss Seq
TTTTCCTTGCTGTCTTGTAGATC
3' ss Score
11.09
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
GTCAGAGTGGGAGCATTCCAGTTCAGTTCCACTCCTCATCTGGAATTCCCCTTGGATTCATTTTCAACCCAACAGGAAGTGAAGGCAAGAATCAAGAGGATGGTTTTCAA
Seq A exon
ATCCCATTTCTTCAACTAGACTGGGAGTTCTTTAAGGGATGGGATCGTGGTTATACTTCCTGGTCTCCATTTCACTATCTTCCCTCTAGTGGATCCACAGTAAATACTCACAGGTTGAAAAAAAA
Seq C2 exon
AGGAGGGCGCACGGAGACGGAACTTGCTCTGAAATACCTTCTGCACAGAGGGTTGCCTGGAGGCAGAAATGCTTCTGTGCCCCAGATCCTCATCATCGTCACTGATGGGAAGTCCCAGGGGGATGTGGCACTGCCATCCAAGCAGCTGAAGGAAAGGGGTGTCACTGTGTTTGCTGTGGGGGTCAGGTTTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.045
Domain overlap (PFAM):
C1:
PF0009223=VWA=FE(20.9=100)
A:
PF0009223=VWA=PD(3.9=42.9)
C2:
PF0009223=VWA=FE(37.8=100)
Main Inclusion Isoform:
ENST00000392982fB29900
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGGAGCATTCCAGTTCAGT
R:
TTCCTTCAGCTGCTTGGATGG
Band lengths:
258-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains