Special

HsaEX6064669 @ hg19

Exon Skipping

Gene
Description
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Coordinates
chr12:6092316-6094831:-
Coord C1 exon
chr12:6094729-6094831
Coord A exon
chr12:6094211-6094285
Coord C2 exon
chr12:6092316-6092420
Length
75 bp
Sequences
Splice sites
3' ss Seq
TGGCCGTTCCTCTCCTCTAGCTC
3' ss Score
10.22
5' ss Seq
GTGGTATGT
5' ss Score
7.64
Exon sequences
Seq C1 exon
TTCCTGGAAGCCTGGGTCCCGGACCACCAGCCCTGTCAGATCTGCACATGCCTCAGCGGGCGGAAGGTCAACTGCACAACGCAGCCCTGCCCCACGGCCAAAG
Seq A exon
CTCCCACGTGTGGCCTGTGTGAAGTAGCCCGCCTCCGCCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTG
Seq C2 exon
TGTGTGACCCAGTGAGCTGTGACCTGCCCCCAGTGCCTCACTGTGAACGTGGCCTCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'54-52,'54-51,55-52=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=0.000
Domain overlap (PFAM):

C1:
PF0009313=VWC=FE(45.9=100)
A:
PF0009313=VWC=FE(33.8=100)
C2:
PF0009313=VWC=PD(1.4=2.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(VWF)
Chicken
(galGal3)
HIGH PSI
(VWF)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGTCAGATCTGCACATGCC
R:
GGTGAAGTTGGGTCTGCACTC
Band lengths:
173-248
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains