Special

HsaEX0052272 @ hg19

Exon Skipping

Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor (GEF) 3 [Source:HGNC Symbol;Acc:16629]
Coordinates
chr12:48144124-48145612:-
Coord C1 exon
chr12:48145506-48145612
Coord A exon
chr12:48145182-48145303
Coord C2 exon
chr12:48144124-48144208
Length
122 bp
Sequences
Splice sites
3' ss Seq
TCCCCTTCTACCTTCCATAGGCA
3' ss Score
10.65
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
GCCTCCACAGAGCGGGTGCTCAGGGCTGGGAGGCAGCTGCATCGGCATCTGCTGGCCACCTGCCCAAACCTCATCCGAGACCGGAAGTACCACCTTAGGCTCTATCG
Seq A exon
GCAGTGCTGCTCTGGCCGGGAGCTGGTGGATGGGATCTTGGCCCTGGGACTTGGGGTCCATTCCCGGAGCCAAGTTGTGGGAATCTGCCAGGTGCTGCTGGATGAAGGTGCCCTCTGCCATG
Seq C2 exon
CCCAGGTCAGCGCACGGATGAAGAGCTGGACCTCATCTTTGAGGAGCTGCTGCACATCAAGGCTGTGGCCCACCTCTCCAACTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337_MULTIEX2-3/4=2-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0061016=DEP=PU(18.3=36.1)
A:
PF0061016=DEP=FE(57.7=100)
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:
CCTCCACAGAGCGGGTGC
R:
GAGTTGGAGAGGTGGGCCA
Band lengths:
190-312
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