HsaEX1043414 @ hg38
Exon Skipping
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107642619-107683533:-
Coord C1 exon
chr1:107683488-107683533
Coord A exon
chr1:107669160-107669472
Coord C2 exon
chr1:107642619-107642755
Length
313 bp
Sequences
Splice sites
3' ss Seq
TTCTTTCTTGTCTTTATTAGATG
3' ss Score
9.36
5' ss Seq
AAGGTGAAA
5' ss Score
4.51
Exon sequences
Seq C1 exon
AAACGGACCAATGGACTGCGAAGAACTCCTAAACAGGTGGATCCAG
Seq A exon
ATGTGCCCTGTCTCCTTCATTTCTTTATTTCCATGGCCCCTGCTACTAGAAGCATTGTAAAAAGCCAAAAGAAGAACAAGAAATTCTGAGGACATGGGTGAAAATGCAGCCTTGAGGTTTCTGAAAATAACAGGAGACAGACAAGGCTGGTGTCCAGCAACAATACTGGGTAGCTCTTTTTGTCCCCACTTACACAGCGAAGGATAAAGAAGAGATCCTATGGACACTTAGTAAGGATTACTTCATGTTTTAATTCAAAGTACTTTGGAAAGAAGACTTTGAGCAGAGTGGAATAGCAGGAGGTTTTTGTAAG
Seq C2 exon
GTTTACCAAAGATGCAGGTCATTAGGAACTATTCTGGAACACCACCCCCAGCTCTGCATGAAGGACCCCCTTTACAGCTCCAGGCCGGGGATACCGTTGAACTTCTGAAAGGAGATGCACACAGTCTGTTTTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215_MULTIEX2-6/9=4-8
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.844 A=0.000 C2=0.393
Domain overlap (PFAM):
C1:
PF0063014=Filamin=PU(9.8=87.5)
A:
NO
C2:
PF0063014=Filamin=FE(14.2=100),PF0765312=SH3_2=PU(66.7=91.3)
Main Inclusion Isoform:
ENST00000527011fB29703
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAACGGACCAATGGACTGCG
R:
TGCCAAAACAGACTGTGTGCA
Band lengths:
182-495
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains