HsaEX0070272 @ hg38
Exon Skipping
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107642619-107688406:-
Coord C1 exon
chr1:107688381-107688406
Coord A exon
chr1:107683488-107683533
Coord C2 exon
chr1:107642619-107642755
Length
46 bp
Sequences
Splice sites
3' ss Seq
TGTTTTACTTTACTGCACAGAAA
3' ss Score
7.04
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
Exon sequences
Seq C1 exon
AACAAGGGACACTCAAACTACCAGAG
Seq A exon
AAACGGACCAATGGACTGCGAAGAACTCCTAAACAGGTGGATCCAG
Seq C2 exon
GTTTACCAAAGATGCAGGTCATTAGGAACTATTCTGGAACACCACCCCCAGCTCTGCATGAAGGACCCCCTTTACAGCTCCAGGCCGGGGATACCGTTGAACTTCTGAAAGGAGATGCACACAGTCTGTTTTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215-'60-64,'60-55,63-64
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.617 A=0.844 C2=0.393
Domain overlap (PFAM):
C1:
PF0063014=Filamin=FE(2.5=100)
A:
PF0063014=Filamin=PU(9.8=87.5)
C2:
PF0063014=Filamin=FE(14.2=100),PF0765312=SH3_2=PU(66.7=91.3)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAGGGACACTCAAACTACCA
R:
TCAGAAGTTCAACGGTATCCCC
Band lengths:
133-179
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development