Special

HsaEX6090629 @ hg19

Exon Skipping

Gene
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:24709]
Coordinates
chr10:116038478-116044729:+
Coord C1 exon
chr10:116038478-116038610
Coord A exon
chr10:116042275-116042330
Coord C2 exon
chr10:116044622-116044729
Length
56 bp
Sequences
Splice sites
3' ss Seq
TCTGTTTCCTTGGATTGTAGCTG
3' ss Score
6.86
5' ss Seq
CAGGTATGG
5' ss Score
9.99
Exon sequences
Seq C1 exon
ACTGCAGGGTCGAGGCTCACCCCTGTGAGCACAGGACGCTGGAGATGGTCCGGGAGTTCGCTGGCAATGCCCCATGCTGGAGAGGATCGCGGCGGACCCTTGCGGTGCTGGCTGCACACTGTCCCTTCTACAG
Seq A exon
CTGGAAGAGAGTGTTCCTAACCCACCCTGCCACCTGCTACAGGACCACCTGCCCAG
Seq C2 exon
GCCCCTGTGACTCGCAGCCCTGCCAGAATGGAGGCACATGTGTTCCAGAAGGACTGGACGGCTACCAGTGCCTCTGCCCGCTGGCCTTTGGAGGGGAGGCTAACTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816-'7-8,'7-7,8-8=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF073337=SLR1-BP=PU(6.0=6.7)
A:
PF073337=SLR1-BP=FE(38.0=100)
C2:
PF073337=SLR1-BP=PD(54.0=73.0),PF0000822=EGF=WD(100=83.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGCACACTGTCCCTTCTA
R:
CACAGTTAGCCTCCCCTCCAA
Band lengths:
132-188
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains