Special

HsaEX0070257 @ hg38

Exon Skipping

Gene
Description
vav guanine nucleotide exchange factor 2 [Source:HGNC Symbol;Acc:HGNC:12658]
Coordinates
chr9:133770378-133775051:-
Coord C1 exon
chr9:133774935-133775051
Coord A exon
chr9:133771959-133772046
Coord C2 exon
chr9:133770378-133770501
Length
88 bp
Sequences
Splice sites
3' ss Seq
GGGGCCGTGTGTTTGCTCAGGTT
3' ss Score
5.21
5' ss Seq
CTGGTAGGT
5' ss Score
8.37
Exon sequences
Seq C1 exon
GTTTGCAGGTAACATGGAGAGGCAGCAGACGGACAACCTGCTCAAGTCCCACGCCAGCGGGACCTACCTGATCAGGGAGCGGCCTGCCGAGGCTGAGCGCTTTGCAATAAGCATCAA
Seq A exon
GTTCAATGATGAGGTGAAGCACATCAAGGTGGTGGAGAAGGACAACTGGATCCACATCACAGAGGCCAAGAAATTCGACAGCCTCCTG
Seq C2 exon
GAGTTGGTGGAGTACTACCAGTGCCACTCACTGAAGGAGAGCTTCAAGCAGCTGGACACCACACTCAAGTACCCCTACAAGTCCCGGGAACGTTCGGCCTCCAGGGCCTCCAGCCGGTCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160293-'78-55,'78-54,80-55
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.075 A=0.000 C2=0.030
Domain overlap (PFAM):

C1:
PF0001719=SH2=PU(52.0=97.5)
A:
PF0001719=SH2=FE(38.7=100)
C2:
PF0001719=SH2=PD(6.7=11.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAACCTGCTCAAGTCCCAC
R:
CCGGGACTTGTAGGGGTACTT
Band lengths:
173-261
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