HsaEX0070745 @ hg38
Exon Skipping
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114285939-114289489:+
Coord C1 exon
chr10:114285939-114286511
Coord A exon
chr10:114288350-114288531
Coord C2 exon
chr10:114288938-114289489
Length
182 bp
Sequences
Splice sites
3' ss Seq
TTTCATGTCTGTTCCCCTAGACT
3' ss Score
9.53
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
CGGCTTCCTGCGGGCCAAAGTCTTCGTGAAGCGGTTTGTGCGGGCCGTGCTGAGCGAGGACTCTCGGGCCCGAGTGGGTGTGGCCACATACAGCAGGGAGCTGCTGGTGGCGGTGCCTGTGGGGGAGTACCAGGATGTGCCTGACCTGGTCTGGAGCCTCGATGGCATTCCCTTCCGTGGTGGCCCCACCCTGACGGGCAGTGCCTTGCGGCAGGCGGCAGAGCGTGGCTTCGGGAGCGCCACCAGGACAGGCCAGGACCGGCCACGTAGAGTGGTGGTTTTGCTCACTGAGTCACACTCCGAGGATGAGGTTGCGGGCCCAGCGCGTCACGCAAGGGCGCGAGAGCTGCTCCTGCTGGGTGTAGGCAGTGAGGCCGTGCGGGCAGAGCTGGAGGAGATCACAGGCAGCCCAAAGCATGTGATGGTCTACTCGGATCCTCAGGATCTGTTCAACCAAATCCCTGAGCTGCAGGGGAAGCTGTGCAGCCGGCAGCGGCCAG
Seq A exon
ACTGTCAGCCTGTTGACAGCAGGCATGGGCCCATTTTGTCCATACAGCATCTAATTAGTGCCCTGCATACTGGGGATGGATGAAGGCACAGGTGAAGATGTTGTCACAAAGGGTTGCCCACAAACCCAAACCCCATGGGTTACATAAGACAGGAACTTATTTCTCTCACATACAGTTCAGAG
Seq C2 exon
GGTGCCGGACACAAGCCCTGGACCTCGTCTTCATGTTGGACACCTCTGCCTCAGTAGGGCCCGAGAATTTTGCTCAGATGCAGAGCTTTGTGAGAAGCTGTGCCCTCCAGTTTGAGGTGAACCCTGACGTGACACAGGTCGGCCTGGTGGTGTATGGCAGCCAGGTGCAGACTGCCTTCGGGCTGGACACCAAACCCACCCGGGCTGCGATGCTGCGGGCCATTAGCCAGGCCCCCTACCTAGGTGGGGTGGGCTCAGCCGGCACCGCCCTGCTGCACATCTATGACAAAGTGATGACCGTCCAGAGGGGTGCCCGGCCTGGTGTCCCCAAAGCTGTGGTGGTGCTCACAGGCGGGAGAGGCGCAGAGGATGCAGCCGTTCCTGCCCAGAAGCTGAGGAACAATGGCATCTCTGTCTTGGTCGTGGGCGTGGGGCCTGTCCTAAGTGAGGGTCTGCGGAGGCTTGCAGGTCCCCGGGATTCCCTGATCCACGTGGCAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.122 A=0.333 C2=0.021
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=89.1)
A:
NO
C2:
PF0009223=VWA=WD(100=93.0)
Main Inclusion Isoform:
ENST00000392982fB7750
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
GAGATCACAGGCAGCCCAAAG
R:
CTGTGTCACGTCAGGGTTCAC
Band lengths:
243-425
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development