HsaEX6064656 @ hg19
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Coordinates
chr12:6131066-6132953:-
Coord C1 exon
chr12:6132797-6132953
Coord A exon
chr12:6131906-6132064
Coord C2 exon
chr12:6131066-6131201
Length
159 bp
Sequences
Splice sites
3' ss Seq
CTTGTCTCCTGTCTACACAGCCC
3' ss Score
9.21
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GTGGACCCCGAGCCATATCTGGATGTCTGCATTTACGACACCTGCTCCTGTGAGTCCATTGGGGACTGCGCCTGCTTCTGCGACACCATTGCTGCCTATGCCCACGTGTGTGCCCAGCATGGCAAGGTGGTGACCTGGAGGACGGCCACATTGTGCC
Seq A exon
CCCAGAGCTGCGAGGAGAGGAATCTCCGGGAGAACGGGTATGAGTGTGAGTGGCGCTATAACAGCTGTGCACCTGCCTGTCAAGTCACGTGTCAGCACCCTGAGCCACTGGCCTGCCCTGTGCAGTGTGTGGAGGGCTGCCATGCCCACTGCCCTCCAG
Seq C2 exon
GGAAAATCCTGGATGAGCTTTTGCAGACCTGCGTTGACCCTGAAGACTGTCCAGTGTGTGAGGTGGCTGGCCGGCGTTTTGCCTCAGGAAAGAAAGTCACCTTGAATCCCAGTGACCCTGAGCACTGCCAGATTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-'38-37,'38-36,39-37=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:
PF087426=C8=FE(69.3=100)
A:
PF087426=C8=PD(0.1=0.0),PF0182612=TIL=PU(69.6=72.2)
C2:
PF0182612=TIL=PD(28.6=34.8)
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:
TGCATTTACGACACCTGCTCC
R:
AGGGTCACTGGGATTCAAGGT
Band lengths:
249-408
Functional annotations
There are 1 annotated functions for this event
PMID: 3524673
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: protein cleavage. ELM ID: ELMI000123; ELM sequence: NSC; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)