Special

HsaEX0070246 @ hg38

Exon Skipping

Gene
Description
vav guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:12657]
Coordinates
chr19:6836432-6843166:+
Coord C1 exon
chr19:6836432-6836568
Coord A exon
chr19:6836985-6837050
Coord C2 exon
chr19:6843135-6843166
Length
66 bp
Sequences
Splice sites
3' ss Seq
TTTGTCTCCTGGGTGTTTAGGGC
3' ss Score
7.46
5' ss Seq
CATGTGAGT
5' ss Score
7.83
Exon sequences
Seq C1 exon
GTCTGCCCAAGATGGAGGTGTTTCAGGAATACTACGGGCTTCCTCCACCCCCTGGAGCCATTGGACCCTTTCTACGGCTCAACCCTGGAGACATTGTGGAGCTCACGAAGGCTGAGGCTGAACAGAACTGGTGGGAG
Seq A exon
GGCAGAAATACATCTACTAATGAAATTGGCTGGTTTCCTTGTAACAGGGTGAAGCCCTATGTCCAT
Seq C2 exon
GGCCCTCCTCAGGACCTGTCTGTTCATCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141968_CASSETTE4
Average complexity
S*
Mappability confidence:
100%=100=50%
Protein Impact

Alternative protein isoforms (Ref)

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.035 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0001823=SH3_1=PU(60.5=50.0)
A:
PF0001823=SH3_1=PD(34.2=59.1)
C2:
PF0001719=SH2=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
TCTGCCCAAGATGGAGGTGTT
R:
AGAGATGAACAGACAGGTCCTGA
Band lengths:
167-233
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development