HsaEX6032481 @ hg38
Exon Skipping
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107749462-107755513:-
Coord C1 exon
chr1:107755427-107755513
Coord A exon
chr1:107751117-107751202
Coord C2 exon
chr1:107749462-107749594
Length
86 bp
Sequences
Splice sites
3' ss Seq
ATGTGCATTTTATATTTTAGAAC
3' ss Score
9.69
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GACTTGGCACAATATGTGAATGAAGTGAAAAGAGATAATGAGACCCTTCGTGAAATTAAACAGTTTCAGCTATCTATAGAGAATTTG
Seq A exon
AACCAACCAGTTTTGCTTTTTGGACGACCTCAGGGAGATGGTGAAATTCGAATAACCACTCTAGACAAGCATACCAAACAAGAAAG
Seq C2 exon
GCATATCTTCTTATTTGATTTGGCAGTGATCGTATGTAAGAGAAAAGGTGATAACTATGAAATGAAGGAAATAATAGATCTTCAGCAGTACAAGATAGCCAATAATCCTACAACCGATAAAGAAAACAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215-'41-30,'41-29,43-30=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.103 C2=0.001
Domain overlap (PFAM):
C1:
PF0062115=RhoGEF=PD(4.0=24.1)
A:
PF0016924=PH=PU(17.8=62.1),PF0063014=Filamin=PU(4.4=48.3)
C2:
PF0016924=PH=FE(43.6=100),PF0063014=Filamin=FE(13.9=100)
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:
AGAGATAATGAGACCCTTCGTGA
R:
ATCGGTTGTAGGATTATTGGCT
Band lengths:
175-261
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains