Special

HsaEX0070261 @ hg38

Exon Skipping

Gene
Description
vav guanine nucleotide exchange factor 2 [Source:HGNC Symbol;Acc:HGNC:12658]
Coordinates
chr9:133861374-133992310:-
Coord C1 exon
chr9:133992075-133992310
Coord A exon
chr9:133939103-133939219
Coord C2 exon
chr9:133861374-133861432
Length
117 bp
Sequences
Splice sites
3' ss Seq
CCTTTGTTTTTTCCCTTTAGTTT
3' ss Score
10.71
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ACTGCCCTGAGCCGGTCGGGCCCGCGGGCGCCATGGAGCAGTGGCGGCAGTGCGGCCGCTGGCTCATCGATTGCAAGGTCCTGCCGCCCAACCACCGGGTGGTGTGGCCCTCGGCCGTGGTCTTCGACCTGGCGCAGGCGCTGCGCGACGGGGTCCTTCTGTGCCAGCTGCTGCACAACCTCTCCCCCGGCTCCATCGACCTCAAGGACATCAACTTCCGGCCGCAGATGTCCCAG
Seq A exon
TTTCTGTGTTTGAAGAACATACGCACCTTCCTGAAAGTCTGCCACGATAAATTTGGATTAAGGAACAGCGAGCTGTTTGACCCCTTTGACCTCTTCGATGTGCGAGACTTTGGAAAG
Seq C2 exon
GTCATCTCCGCGGTGTCGAGGCTCTCCCTGCACAGCATCGCGCAGAACAAAGGGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160293_MULTIEX4-1/5=C1-C2
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=0.000
Domain overlap (PFAM):

C1:
PF119713=CAMSAP_CH=PU(58.1=73.5)
A:
PF119713=CAMSAP_CH=PD(39.5=87.2)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTCATCGATTGCAAGGTC
R:
GATCCCTTTGTTCTGCGCGAT
Band lengths:
234-351
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