Special

HsaEX0052250 @ hg38

Exon Skipping

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568]
Coordinates
chr9:131602061-131621998:-
Coord C1 exon
chr9:131621796-131621998
Coord A exon
chr9:131619051-131619209
Coord C2 exon
chr9:131602061-131602149
Length
159 bp
Sequences
Splice sites
3' ss Seq
CTCTCCTCCCCTCTGTCCAGCAG
3' ss Score
8.03
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
Exon sequences
Seq C1 exon
TGCTGGCCTACATGCAGTTGCTGGAGGACTACTCGGAGCCGCAGCCCTCTATGTTCTACCAGACGCCACAGAACGAGCACATCTACCAGCAGAAGAACAAGCTCCTCATGGAGGTATACGGCTTCAGCGACTCCTTCAGTGGGGTGGACTCCGTGCAGGAGCTGGCCCCGCCGCCCGCCCTACCCCCCAAGCAGCGGCAGCTG
Seq A exon
CAGGCCTCCTGTGCTGCTTCTTCCTTCTCCTCTGTCTCCCACTGTGTCCAGCAAACTAAAGTGGCCTTCACCCCCGAGGACGGCAGTGCCGCTCAGGGCCTCAGTGTGTCCGTCTCTAACTCCTTTCTCAGCCGGCACGGCAGCTTGCCCGTGCCCTCG
Seq C2 exon
GAGCCACCGGCTGGGAAAGACGGACATCCCAGAGATCCCTCAGCGGTCAGCGGCGTCCCTGGGAAGGACAGCAGAGACGGCAGTGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263_MULTIEX2-2/6=C1-5
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.619 A=0.093 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTACATGCAGTTGCTGGAG
R:
GCTGAGGGATCTCTGGGATGT
Band lengths:
242-401
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