HsaEX0070268 @ hg38
Exon Skipping
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107574047-107596341:-
Coord C1 exon
chr1:107596212-107596341
Coord A exon
chr1:107576392-107576475
Coord C2 exon
chr1:107574047-107574198
Length
84 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTTCTTTCTCAAAGCCC
3' ss Score
8.57
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
GAACTTGTGGAGTACTACAAGCATCATTCTCTCAAGGAAGGGTTCAGAACCTTAGATACAACTCTGCAGTTTCCATACAAGGAGCCAGAACATTCAGCTGGACAGAGGGGTAATAGAGCAGGCAACAGCT
Seq A exon
CCCCCTCTTTGTTCTGTGGCTTTTCTTTTGTAACTCCTCCAGACTACAGCTTTGTTCCCCCTTCTTCCACTCCTTTCTGGTCAG
Seq C2 exon
TGTTAAGTCCAAAAGTGCTGGGCATTGCCATCGCTCGGTATGACTTCTGTGCAAGAGATATGAGAGAGTTGTCCTTGTTGAAAGGAGATGTGGTGAAGATTTACACAAAGATGAGTGCAAATGGCTGGTGGAGAGGAGAAGTAAATGGCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215-'98-86,'98-85,102-86=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.276 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0001719=SH2=PD(6.7=11.4)
A:
NO
C2:
PF0765312=SH3_2=PU(75.9=80.4)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCAGCTGGACAGAGGGGTAA
R:
TCTCCTCTCCACCAGCCATTT
Band lengths:
177-261
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