Special

HsaEX0052251 @ hg19

Exon Skipping

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor (GEF) 1 [Source:HGNC Symbol;Acc:4568]
Coordinates
chr9:134477448-134497385:-
Coord C1 exon
chr9:134497183-134497385
Coord A exon
chr9:134480318-134480575
Coord C2 exon
chr9:134477448-134477536
Length
258 bp
Sequences
Splice sites
3' ss Seq
TCTCCACCTGGATTCTGTAGTAT
3' ss Score
4.3
5' ss Seq
TCGGTGAGA
5' ss Score
8.51
Exon sequences
Seq C1 exon
TGCTGGCCTACATGCAGTTGCTGGAGGACTACTCGGAGCCGCAGCCCTCTATGTTCTACCAGACGCCACAGAACGAGCACATCTACCAGCAGAAGAACAAGCTCCTCATGGAGGTATACGGCTTCAGCGACTCCTTCAGTGGGGTGGACTCCGTGCAGGAGCTGGCCCCGCCGCCCGCCCTACCCCCCAAGCAGCGGCAGCTG
Seq A exon
TATAAGTCTGTGTTTAGGTCCTACTCCCAGGATTTCGTGCCTCACCACCAAGCTTCCGTTCCGCCTTTCCTTCCGCCTACCTCCTCTTCCTCTCCACATTTCCCACCTGCCCACCAGTCTCAGAGCTCTGACTTAGCCGTGCCAACCATGGCCGGTCCACCTCCCAGCACCGTGGACGGGCCTCTCTCGGCTTCTCAGGAGAGCAGCTTTCATGGGAATACTGTCTGCCTTCCTTCCGAAACCTCTTTCACTGACTCG
Seq C2 exon
GAGCCACCGGCTGGGAAAGACGGACATCCCAGAGATCCCTCAGCGGTCAGCGGCGTCCCTGGGAAGGACAGCAGAGACGGCAGTGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263_MULTIEX1-2/4=C1-4
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.594 A=0.829 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGGCCTACATGCAGTTG
R:
CTCTCACTGCCGTCTCTGCT
Band lengths:
292-550
Functional annotations
There are 0 annotated functions for this event


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