HsaEX0052254 @ hg38
Exon Skipping
Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568]
Coordinates
chr9:131643239-131650949:-
Coord C1 exon
chr9:131650810-131650949
Coord A exon
chr9:131650129-131650242
Coord C2 exon
chr9:131643239-131643417
Length
114 bp
Sequences
Splice sites
3' ss Seq
CCAGGTTTCCTCTCTTCCAGGAG
3' ss Score
9.2
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
Exon sequences
Seq C1 exon
ACTCTCAGCGTTCTCATCTCTCTTCCTTCACCATGAAGCTGATGGACAAATTCCACTCACCCAAAATCAAGAGAACGCCATCAAAGAAGGGAAAACCAGCTGAGGTGTCCGTAAAGATTCCAGAGAAGCCTGTGAACAAA
Seq A exon
GAGGCAACAGACAGATTTCTACCAGAGGGCTACCCTCTCCCCTTGGATCTGGAGCAGCAGGCAGTAGAATTTATGTCCACCAGTGCTGTGGCTTCCAGGTCTCAAAGGCAGAAG
Seq C2 exon
AACCTGAGCTGGCTGGAGGAGAAAGAGAAGGAAGTTGTCAGTGCCCTGCGCTACTTTAAGACCATTGTGGACAAAATGGCAATTGATAAGAAGGTACTGGAGATGCTTCCAGGGTCAGCCAGCAAGGTGCTGGAGGCCATCTTACCCCTGGTGCAGAACGATCCTCGAATTCAGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263-'21-16,'21-10,24-16
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.626 A=0.105 C2=0.002
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCAAAATCAAGAGAACGCCA
R:
ATCGTTCTGCACCAGGGGTAA
Band lengths:
244-358
Functional annotations
There are 1 annotated functions for this event
PMID: 22749401
Inclusion enhances interaction with GRB2, and reduces with CRK. 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