HsaEX6032483 @ hg38
Exon Skipping
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107704960-107749594:-
Coord C1 exon
chr1:107749462-107749594
Coord A exon
chr1:107748968-107749077
Coord C2 exon
chr1:107704960-107705061
Length
110 bp
Sequences
Splice sites
3' ss Seq
AGGAATATTAATTTTAACAGTGG
3' ss Score
1.78
5' ss Seq
TTTGTGAGT
5' ss Score
5.91
Exon sequences
Seq C1 exon
GCATATCTTCTTATTTGATTTGGCAGTGATCGTATGTAAGAGAAAAGGTGATAACTATGAAATGAAGGAAATAATAGATCTTCAGCAGTACAAGATAGCCAATAATCCTACAACCGATAAAGAAAACAAAAAG
Seq A exon
TGGTCTTATGGCTTCTACCTCATCCATACCCAAGGACAAAATGGGTTAGAATTTTATTGCAAAACAAAAGATTTAAAGAAGAAATGGCTAGAACAGTTTGAAATGGCTTT
Seq C2 exon
GTCTAACATAAGACCAGACTATGCAGACTCCAATTTCCACGACTTCAAGATGCATACCTTCACTCGAGTCACATCCTGCAAAGTCTGCCAGATGCTCCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215-'44-43,'44-32,45-43
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.001 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0016924=PH=FE(43.6=100),PF0063014=Filamin=FE(13.9=100)
A:
PF0016924=PH=FE(35.6=100),PF0063014=Filamin=PU(10.5=70.3)
C2:
PF0016924=PH=PD(1.0=2.9),PF0063014=Filamin=FE(10.8=100),PF0013017=C1_1=PU(39.6=60.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATATCTTCTTATTTGATTTGGCAG
R:
AGACTTTGCAGGATGTGACTCG
Band lengths:
219-329
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains