Special

HsaEX0052276 @ hg38

Exon Skipping

Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626]
Coordinates
chr2:172922281-172961228:+
Coord C1 exon
chr2:172922281-172922300
Coord A exon
chr2:172960760-172960813
Coord C2 exon
chr2:172961122-172961228
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTAACATTTTATTTTTCAGACA
3' ss Score
9.92
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
GGATTCCTGACAAGGAGAAC
Seq A exon
ACACCTCTCATTGAACCTCACGTTCCTCTTCGTCCTGCTAACACCATTACCAAG
Seq C2 exon
GTCCCTTCAGAGAAGATCCTCAGAGCTGGAAAAATTTTACGAAATGCCATTCTCTCTCGAGCACCTCACATGATAAGAGATAGAAAATACCACCTAAAGACATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428-'17-21,'17-20,24-21
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.540 C2=0.007
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0061016=DEP=PU(19.7=38.9)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 22749401
Inclusion reduces interaction with RRAS2. By LUMIER.


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development