HsaEX0052284 @ hg38
Exon Skipping
Gene
ENSG00000136237 | RAPGEF5
Description
Rap guanine nucleotide exchange factor 5 [Source:HGNC Symbol;Acc:HGNC:16862]
Coordinates
chr7:22167070-22193909:-
Coord C1 exon
chr7:22193367-22193909
Coord A exon
chr7:22191529-22191642
Coord C2 exon
chr7:22167070-22167148
Length
114 bp
Sequences
Splice sites
3' ss Seq
TATTCTTGCTTTCTTCTCAGTTA
3' ss Score
8.21
5' ss Seq
GGGGTTGGT
5' ss Score
0.32
Exon sequences
Seq C1 exon
CCCTGCCTGCCTTCCCTTCCCTTGCTCCATCTCACTCGCTCTCTGCCTCCTCTACCCTCCCTCCCTCTCTTTTCTCTCCGCCTCTCCAGCGTTCTAGCTGACTGCAGAGCTCTTAGCAGCCAGATGGACTCAGTTCCCAGTGAAAGGACAGGGATGGCAAGATCTTTTAGCATTTAGGGGATGCCTTTGTTAGTAACCGTTCACAATGGGCAGCTCCCGGCTGAGGGTCTTTGACCCTCATTTGGAGAGGAAAGATTCCGCCGCGGCGCTCTCAGACCGAGAGCTGCCCTTGCCTACCTTCGATGTGCCTTATTTCAAATACATCGACGAGGAGGATGAGGACGATGAATGGAGCAGCCGCTCGCAGTCTTCCACCGAGGATGACTCAGTGGACTCTCTGCTCTCTGACAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACAG
Seq A exon
TTATACCAACCCCTGGGATCACATGTGTCACTTCTGCCATGTGCTCACAAAGCCAAGCGGACCAGGACTTCATGGCTTGACTCTCCTAGCACCAACCTAAGTGGGGAAGAAGGG
Seq C2 exon
AGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136237_CASSETTE3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.153 A=0.346 C2=0.000
Domain overlap (PFAM):
C1:
PF0061815=RasGEF_N=PU(25.5=90.3)
A:
NO
C2:
PF0061815=RasGEF_N=PD(46.3=92.6)
Other Inclusion 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:
ACATCGACGAGGAGGATGAGG
R:
GCCTGGCACAAGTCATCAGTT
Band lengths:
247-361
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