Special

HsaEX6090628 @ hg19

Exon Skipping

Gene
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:24709]
Coordinates
chr10:116042275-116046270:+
Coord C1 exon
chr10:116042275-116042330
Coord A exon
chr10:116044622-116044729
Coord C2 exon
chr10:116045698-116046270
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-'8-9,'8-8,9-9=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.122
Domain overlap (PFAM):

C1:
PF073337=SLR1-BP=FE(38.0=100)
A:
PF073337=SLR1-BP=PD(54.0=73.0),PF0000822=EGF=WD(100=83.8)
C2:
PF0009223=VWA=WD(100=89.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
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