Special

HsaEX6092358 @ hg38

Exon Skipping

Gene
Description
vav guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:12657]
Coordinates
chr19:6821791-6822514:+
Coord C1 exon
chr19:6821791-6821859
Coord A exon
chr19:6822221-6822329
Coord C2 exon
chr19:6822419-6822514
Length
109 bp
Sequences
Splice sites
3' ss Seq
CCTGACCTCACAACCCACAGCGA
3' ss Score
5.8
5' ss Seq
CCGGTGCGT
5' ss Score
9.74
Exon sequences
Seq C1 exon
GCCCTTCCCCACCGAGGAGGAGAGTGTAGGTGATGAAGACATCTACAGTGGCCTGTCCGACCAGATCGA
Seq A exon
CGACACGGTGGAGGAGGATGAGGACCTGTATGACTGCGTGGAGAATGAGGAGGCGGAAGGCGACGAGATCTATGAGGACCTCATGCGCTCGGAGCCCGTGTCCATGCCG
Seq C2 exon
CCCAAGATGACAGAGTATGACAAGCGCTGCTGCTGCCTGCGGGAGATCCAGCAGACGGAGGAGAAGTACACTGACACGCTGGGCTCCATCCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141968-'10-11,'10-10,11-11=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=0.367 A=0.286 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0062115=RhoGEF=PU(8.3=37.8)
C2:
PF0062115=RhoGEF=PU(11.4=62.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
ALTERNATIVE
(Vav)
Primers PCR
Suggestions for RT-PCR validation
F:
CCACCGAGGAGGAGAGTGTAG
R:
CTGGATGGAGCCCAGCGT
Band lengths:
154-263
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains