HsaEX0052283 @ hg38
Exon Skipping
Gene
ENSG00000136237 | RAPGEF5
Description
Rap guanine nucleotide exchange factor 5 [Source:HGNC Symbol;Acc:HGNC:16862]
Coordinates
chr7:22230846-22291241:-
Coord C1 exon
chr7:22291175-22291241
Coord A exon
chr7:22266964-22267012
Coord C2 exon
chr7:22230846-22230919
Length
49 bp
Sequences
Splice sites
3' ss Seq
CCCCCCTAATATTTTATTAGGTG
3' ss Score
7.25
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GTCTCATCAGAAAATTGAAGACTCCGAAGAAAGCAGTGATGAAATTCTTGTGCGTCTAACATCTGCG
Seq A exon
GTGCAGAGAGAGCTAGCAGCTGTTATTGCTTTGAAAGCAAGGAAGTCTG
Seq C2 exon
CAATTGAACAAGATGAAGAAAACAACGACAAACATGTAGCTGTAACAGAAGCCGAAAGTGTTCCAGATTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136237_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.035 A=0.000 C2=0.600
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTCATCAGAAAATTGAAGACTCCG
R:
TGGAACACTTTCGGCTTCTGT
Band lengths:
132-181
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development