HsaEX6064673 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5969211-5976260:-
Coord C1 exon
chr12:5976111-5976260
Coord A exon
chr12:5971599-5971709
Coord C2 exon
chr12:5969211-5969391
Length
111 bp
Sequences
Splice sites
3' ss Seq
TGTTTTTTCTGCTTTTCCAGGGC
3' ss Score
11.01
5' ss Seq
AGTGTAGGT
5' ss Score
3.31
Exon sequences
Seq C1 exon
GTGTGTGTCCACCGAAGCACCATCTACCCTGTGGGCCAGTTCTGGGAGGAGGGCTGCGATGTGTGCACCTGCACCGACATGGAGGATGCCGTGATGGGCCTCCGCGTGGCCCAGTGCTCCCAGAAGCCCTGTGAGGACAGCTGTCGGTCG
Seq A exon
GGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGTGGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTCCTGGAAGAGT
Seq C2 exon
GTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCTTTCAGCTGAGCTGTAAGACCTCAGCGTGCTGCCCAAGCTGTCGCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'95-104,'95-98,103-104=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.036 C2=0.016
Domain overlap (PFAM):
C1:
PF0009313=VWC=PU(75.0=96.0)
A:
PF0009313=VWC=PD(21.9=37.8)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGATTTGCTTGGGAGTCA
R:
TACAATGACTTGCCTGCTCCC
Band lengths:
248-359
Functional annotations
There are 1 annotated functions for this event
PMID: 2447074
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: competition binding. ELM ID: ELMI000113; ELM sequence: RGD; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains