Special

HsaEX0052270 @ hg38

Exon Skipping

Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629]
Coordinates
chr12:47750341-47758078:-
Coord C1 exon
chr12:47757866-47758078
Coord A exon
chr12:47751916-47751969
Coord C2 exon
chr12:47750341-47750425
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCTTTCCCTGCTGCCCCCAGACA
3' ss Score
8.97
5' ss Seq
CAGGTAGAA
5' ss Score
6.68
Exon sequences
Seq C1 exon
GTGGGCTGGCCAGGTGAGAGCTGCTGGCAGGTGGGCCTGGCTGTGGAGGATAGCCCAGCTCTGGGAGCACCGCGGGTGGGAGCCCTCCCTGACGTGGTGCCGGAGGGGACACTACTCAACATGGTGTTGAGAAGGATGCACCGGCCCCGAAGCTGCTCCTACCAGCTGCTGCTGGAGCACCAGCGTCCGAGCTGCATCCAGGGGCTGCGCTGG
Seq A exon
ACACCACTCACCAACAGCGAGGAGTCCCTGGATTTCAGCGAGAGCCTGGAGCAG
Seq C2 exon
CCCAGGTCAGCGCACGGATGAAGAGCTGGACCTCATCTTTGAGGAGCTGCTGCACATCAAGGCTGTGGCCCACCTCTCCAACTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337_MULTIEX2-1/4=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.022 A=0.000 C2=0.003
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGTTGAGAAGGATGCACC
R:
GTGCAGCAGCTCCTCAAAGAT
Band lengths:
147-201
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