Special

HsaEX0052267 @ hg38

Exon Skipping

Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629]
Coordinates
chr12:47747712-47748542:-
Coord C1 exon
chr12:47748454-47748542
Coord A exon
chr12:47748074-47748152
Coord C2 exon
chr12:47747712-47747862
Length
79 bp
Sequences
Splice sites
3' ss Seq
CCCCTCACCCTGTCATACAGAGA
3' ss Score
5.18
5' ss Seq
CCAATATCC
5' ss Score
-12.74
Exon sequences
Seq C1 exon
GTATACAGTGATGTCTGGCACCCCAGAGAAGATCCTAGAGCTTCTGTTGGAGGCCATGGGACCAGATTCCAGTGCTCATGACCCAACAG
Seq A exon
AGACATTCCTCAGCGACTTCCTCCTGACCCACAGGGTCTTCATGCCCAGCGCCCAACTCTGCGCTGCCCTTCTGCACCA
Seq C2 exon
CTTCCATGTGGAGCCTGCGGGTGGCAGCGAGCAGGAGCGCAGCACCTACGTCTGCAACAAGAGGCAGCAGATCTTGCGGCTGGTCAGCCAGTGGGTGGCCCTGTATGGCTCCATGCTCCACACTGACCCTGTGGCCACCAGCTTCCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337_MULTIEX3-2/2=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.161 A=0.000 C2=0.081
Domain overlap (PFAM):

C1:
PF0061815=RasGEF_N=PU(25.5=90.3)
A:
PF0061815=RasGEF_N=FE(23.6=100)
C2:
PF0061815=RasGEF_N=FE(45.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGGGACCAGATTCCAGTGC
R:
ACAGGGTCAGTGTGGAGCAT
Band lengths:
167-246
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