HsaEX0070271 @ hg38
Exon Skipping
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107683488-107704650:-
Coord C1 exon
chr1:107704550-107704650
Coord A exon
chr1:107688381-107688406
Coord C2 exon
chr1:107683488-107683533
Length
26 bp
Sequences
Splice sites
3' ss Seq
AATTTTTACATTTCTTTCAGAAC
3' ss Score
8.91
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
GGGAACATTTTATCAAGGCTATTTATGTTTTAAGTGTGGAGCGAGAGCACACAAAGAATGTTTGGGAAGAGTAGACAATTGTGGCAGAGTTAATTCTGGTG
Seq A exon
AACAAGGGACACTCAAACTACCAGAG
Seq C2 exon
AAACGGACCAATGGACTGCGAAGAACTCCTAAACAGGTGGATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215-'53-55,'53-51,60-55
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.617 C2=0.844
Domain overlap (PFAM):
C1:
PF0063014=Filamin=FE(10.8=100),PF0013017=C1_1=PD(58.5=88.6)
A:
PF0063014=Filamin=FE(2.5=100)
C2:
PF0063014=Filamin=PU(9.8=87.5)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTTTTAAGTGTGGAGCGAGAG
R:
TGTTTAGGAGTTCTTCGCAGTCC
Band lengths:
112-138
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