Special

HsaEX0070788 @ hg19

Exon Skipping

Gene
Description
von Willebrand factor C and EGF domains [Source:HGNC Symbol;Acc:26487]
Coordinates
chr11:61041971-61045948:-
Coord C1 exon
chr11:61045866-61045948
Coord A exon
chr11:61044065-61044152
Coord C2 exon
chr11:61041971-61042056
Length
88 bp
Sequences
Splice sites
3' ss Seq
CTCTCTTGCCTCCTCCTCAGGCT
3' ss Score
9.3
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GCTGTTTTCACAGTGGTGTCGTCCGAGCTGAAGGGGATGTGTTTTCACCTCCCAATGAGAACTGCACCGTCTGTGTCTGTCTG
Seq A exon
GCTGGAAACGTGTCCTGCATCTCTCCTGAGTGTCCTTCTGGCCCCTGTCAGACCCCCCCACAGACGGATTGCTGTACTTGTGTTCCAG
Seq C2 exon
TGAGATGCTATTTCCACGGCCGGTGGTACGCAGACGGGGCTGTGTTCAGTGGGGGTGGTGACGAGTGTACCACCTGTGTTTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167992_MULTIEX1-2/7=1-3
Average complexity
C1
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:
PF0009313=VWC=PU(47.3=92.9)
A:
PF0009313=VWC=PD(49.1=90.0)
C2:
PF0009313=VWC=PU(44.1=89.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
TGTTTTCACAGTGGTGTCGTCC
R:
CTGGCAAACACAGGTGGTACA
Band lengths:
167-255
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development