HsaEX6092346 @ hg38
Exon Skipping
Gene
ENSG00000141968 | VAV1
Description
vav guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:12657]
Coordinates
chr19:6847998-6853079:+
Coord C1 exon
chr19:6847998-6848114
Coord A exon
chr19:6850670-6850757
Coord C2 exon
chr19:6852965-6853079
Length
88 bp
Sequences
Splice sites
3' ss Seq
CGGTGACCATCTGGTTCCAGATA
3' ss Score
6.25
5' ss Seq
ACGGTAAGG
5' ss Score
10.38
Exon sequences
Seq C1 exon
GTACGCAGGCCCCATGGAGCGGGCAGGGGCAGAGAGCATCCTGGCCAACCGCTCGGACGGGACTTTCTTGGTGCGGCAGAGGGTGAAGGATGCAGCAGAATTTGCCATCAGCATTAA
Seq A exon
ATATAACGTCGAGGTCAAGCACATTAAAATCATGACAGCAGAAGGACTGTACCGGATCACAGAGAAAAAGGCTTTCCGGGGGCTTACG
Seq C2 exon
GAGCTGGTGGAGTTTTACCAGCAGAACTCTCTAAAGGATTGCTTCAAGTCTCTGGACACCACCTTGCAGTTCCCCTTCAAGGAGCCTGAAAAGAGAACCATCAGCAGGCCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141968-'46-53,'46-52,47-53
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0001719=SH2=PU(52.0=97.5)
A:
PF0001719=SH2=FE(38.7=100)
C2:
PF0001719=SH2=PD(6.7=12.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTTTCTTGGTGCGGCAGAG
R:
GGCCTGCTGATGGTTCTCTTT
Band lengths:
167-255
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains