Special

HsaEX0052281 @ hg38

Exon Skipping

Gene
ENSG00000136237 | RAPGEF5
Description
Rap guanine nucleotide exchange factor 5 [Source:HGNC Symbol;Acc:HGNC:16862]
Coordinates
chr7:22309969-22315476:-
Coord C1 exon
chr7:22315370-22315476
Coord A exon
chr7:22314574-22314729
Coord C2 exon
chr7:22309969-22310090
Length
156 bp
Sequences
Splice sites
3' ss Seq
TTAGCTTTTTGTTTTGCCAGATA
3' ss Score
6.88
5' ss Seq
AAAGTAGGA
5' ss Score
3.63
Exon sequences
Seq C1 exon
ATTTATGGAGAGAATTCTTCTTGTGCAGGAAGAGCATTGAGGAATATTATTATCGTTCAAGCAGCTGACCTGATAAAGGACAGAGTGAACCTCAAGGGGTTTTACAG
Seq A exon
ATAAAGATATTAAGCCACACCAAATGATACCAAAACTATGAAAGAAAACAAAAAGAAAAACCACTACCATTTGTTATCACTATTCTATTTCAAAGAAATGACGTGCAATACCCATCAAGAGTAAGAAGAGGACTCAGGATTCATGACACCCAAAAA
Seq C2 exon
GAGGAGCTGCGTTGGGTCAGAGCTGGTAGACTGGCTTCTAGAACACTGTCCTTTCGTCCAGTGCAGATCTATGGCCATAGGAGTCTGGCAACTCCTACTGGACATGGGAATTATGTTATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136237_CASSETTE5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.024 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0061016=DEP=PU(17.4=33.3)
A:
NA
C2:
PF0061016=DEP=PU(51.5=94.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATGGAGAGAATTCTTCTTGTGCAGG
R:
CTGATAACATAATTCCCATGTCCAGT
Band lengths:
226-382
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