Special

HsaEX6032483 @ hg19

Exon Skipping

Gene
Description
vav 3 guanine nucleotide exchange factor [Source:HGNC Symbol;Acc:12659]
Coordinates
chr1:108247582-108292216:-
Coord C1 exon
chr1:108292084-108292216
Coord A exon
chr1:108291590-108291699
Coord C2 exon
chr1:108247582-108247683
Length
110 bp
Sequences
Splice sites
3' ss Seq
AGGAATATTAATTTTAACAGTGG
3' ss Score
1.78
5' ss Seq
TTTGTGAGT
5' ss Score
5.91
Exon sequences
Seq C1 exon
GCATATCTTCTTATTTGATTTGGCAGTGATCGTATGTAAGAGAAAAGGTGATAACTATGAAATGAAGGAAATAATAGATCTTCAGCAGTACAAGATAGCCAATAATCCTACAACCGATAAAGAAAACAAAAAG
Seq A exon
TGGTCTTATGGCTTCTACCTCATCCATACCCAAGGACAAAATGGGTTAGAATTTTATTGCAAAACAAAAGATTTAAAGAAGAAATGGCTAGAACAGTTTGAAATGGCTTT
Seq C2 exon
GTCTAACATAAGACCAGACTATGCAGACTCCAATTTCCACGACTTCAAGATGCATACCTTCACTCGAGTCACATCCTGCAAAGTCTGCCAGATGCTCCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215-'16-18,'16-16,17-18=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0016924=PH=FE(43.6=100),PF0063014=Filamin=FE(13.9=100)
A:
PF0016924=PH=FE(35.6=100),PF0063014=Filamin=PU(10.5=70.3)
C2:
PF0016924=PH=PD(1.0=2.9),PF0013017=C1_1=PU(39.6=60.0),PF144461=Prok-RING_1=PU(25.9=40.0),PF0063014=Filamin=FE(10.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATATCTTCTTATTTGATTTGGCAG
R:
AGACTTTGCAGGATGTGACTCG
Band lengths:
219-329
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains