HsaEX6064656 @ hg38
Exon Skipping
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:HGNC:12726]
Coordinates
chr12:5993862-6023787:-
Coord C1 exon
chr12:6023631-6023787
Coord A exon
chr12:6022740-6022898
Coord C2 exon
chr12:5993862-5994203
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
GGATCTGTGATGAGAACGGAGCCAATGACTTCATGCTGAGGGATGGCACAGTCACCACAGACTGGAAAACACTTGTTCAGGAATGGACTGTGCAGCGGCCAGGGCAGACGTGCCAGCCCATCCTGGAGGAGCAGTGTCTTGTCCCCGACAGCTCCCACTGCCAGGTCCTCCTCTTACCACTGTTTGCTGAATGCCACAAGGTCCTGGCTCCAGCCACATTCTATGCCATCTGCCAGCAGGACAGTTGCCACCAGGAGCAAGTGTGTGAGGTGATCGCCTCTTATGCCCACCTCTGTCGGACCAACGGGGTCTGCGTTGACTGGAGGACACCTGATTTCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799_MULTIEX2-21/31=20-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 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:
PF0009420=VWD=PD(10.5=13.9),PF087426=C8=WD(100=59.1)
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:
GACCCCGAGCCATATCTGGAT
R:
GCTGCACAGTCCATTCCTGAA
Band lengths:
250-409
Functional annotations
There are 1 annotated functions for this event
PMID: 3524673
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