Special

HsaEX0070266 @ hg38

Exon Skipping

Gene
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107751117-107757329:-
Coord C1 exon
chr1:107757261-107757329
Coord A exon
chr1:107755427-107755513
Coord C2 exon
chr1:107751117-107751202
Length
87 bp
Sequences
Splice sites
3' ss Seq
CCCTTTTCTTTATTGTCTAGGAC
3' ss Score
11.09
5' ss Seq
TTGGTATGT
5' ss Score
7.12
Exon sequences
Seq C1 exon
GAACTGGTCAAACATACCACTGATCCGACTGAGAAGGCAAATCTGAAACTGGCTCTTGATGCCATGAAG
Seq A exon
GACTTGGCACAATATGTGAATGAAGTGAAAAGAGATAATGAGACCCTTCGTGAAATTAAACAGTTTCAGCTATCTATAGAGAATTTG
Seq C2 exon
AACCAACCAGTTTTGCTTTTTGGACGACCTCAGGGAGATGGTGAAATTCGAATAACCACTCTAGACAAGCATACCAAACAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215-'40-29,'40-26,41-29
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.103
Domain overlap (PFAM):

C1:
PF0062115=RhoGEF=FE(12.6=100)
A:
PF0062115=RhoGEF=PD(4.0=24.1)
C2:
PF0016924=PH=PU(17.8=62.1),PF0063014=Filamin=PU(4.4=48.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
TGGTCAAACATACCACTGATCCG
R:
CTTTCTTGTTTGGTATGCTTGTCT
Band lengths:
151-238
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development