HsaEX6090626 @ hg38
Exon Skipping
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114285939-114290365:+
Coord C1 exon
chr10:114285939-114286511
Coord A exon
chr10:114288938-114289489
Coord C2 exon
chr10:114290240-114290365
Length
552 bp
Sequences
Splice sites
3' ss Seq
CCCTCTGCTTGCTCCTGCAGGGT
3' ss Score
12.21
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
CGGCTTCCTGCGGGCCAAAGTCTTCGTGAAGCGGTTTGTGCGGGCCGTGCTGAGCGAGGACTCTCGGGCCCGAGTGGGTGTGGCCACATACAGCAGGGAGCTGCTGGTGGCGGTGCCTGTGGGGGAGTACCAGGATGTGCCTGACCTGGTCTGGAGCCTCGATGGCATTCCCTTCCGTGGTGGCCCCACCCTGACGGGCAGTGCCTTGCGGCAGGCGGCAGAGCGTGGCTTCGGGAGCGCCACCAGGACAGGCCAGGACCGGCCACGTAGAGTGGTGGTTTTGCTCACTGAGTCACACTCCGAGGATGAGGTTGCGGGCCCAGCGCGTCACGCAAGGGCGCGAGAGCTGCTCCTGCTGGGTGTAGGCAGTGAGGCCGTGCGGGCAGAGCTGGAGGAGATCACAGGCAGCCCAAAGCATGTGATGGTCTACTCGGATCCTCAGGATCTGTTCAACCAAATCCCTGAGCTGCAGGGGAAGCTGTGCAGCCGGCAGCGGCCAG
Seq A exon
GGTGCCGGACACAAGCCCTGGACCTCGTCTTCATGTTGGACACCTCTGCCTCAGTAGGGCCCGAGAATTTTGCTCAGATGCAGAGCTTTGTGAGAAGCTGTGCCCTCCAGTTTGAGGTGAACCCTGACGTGACACAGGTCGGCCTGGTGGTGTATGGCAGCCAGGTGCAGACTGCCTTCGGGCTGGACACCAAACCCACCCGGGCTGCGATGCTGCGGGCCATTAGCCAGGCCCCCTACCTAGGTGGGGTGGGCTCAGCCGGCACCGCCCTGCTGCACATCTATGACAAAGTGATGACCGTCCAGAGGGGTGCCCGGCCTGGTGTCCCCAAAGCTGTGGTGGTGCTCACAGGCGGGAGAGGCGCAGAGGATGCAGCCGTTCCTGCCCAGAAGCTGAGGAACAATGGCATCTCTGTCTTGGTCGTGGGCGTGGGGCCTGTCCTAAGTGAGGGTCTGCGGAGGCTTGCAGGTCCCCGGGATTCCCTGATCCACGTGGCAGCTTACGCCGACCTGCGGTACCACCAGGACGTGCTCATTGAGTGGCTGTGTGGAG
Seq C2 exon
AAGCCAAGCAGCCAGTCAACCTCTGCAAACCCAGCCCGTGCATGAATGAGGGCAGCTGCGTCCTGCAGAATGGGAGCTACCGCTGCAAGTGTCGGGATGGCTGGGAGGGCCCCCACTGCGAGAACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816-'17-23,'17-22,19-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.122 A=0.021 C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=89.1)
A:
PF0009223=VWA=WD(100=93.0)
C2:
PF0000822=EGF=WD(100=72.1)
Main Skipping Isoform:
ENST00000392982fB7750
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATTCCCTTCCGTGGTGGC
R:
GAGGTTGACTGGCTGCTTGG
Band lengths:
358-910
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains