HsaEX0052265 @ hg38
Exon Skipping
Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629]
Coordinates
chr12:47739143-47740191:-
Coord C1 exon
chr12:47740141-47740191
Coord A exon
chr12:47739371-47739418
Coord C2 exon
chr12:47739143-47739230
Length
48 bp
Sequences
Splice sites
3' ss Seq
ACTGCTGTGAATTTTCTCAGTGC
3' ss Score
5.94
5' ss Seq
TGGGTGAGA
5' ss Score
6.04
Exon sequences
Seq C1 exon
CGGCTGCCTCACAAAGTCCGGAAGCTGTACTCCGCCCTCGAGAGGCTGCTG
Seq A exon
TGCTAATGGGAGGTTGGAAGCCCCGTGTTCGCCTGTGACAGAGCCTGG
Seq C2 exon
GATCCCTCATGGAACCACCGGGTATACCGACTGGCCCTCGCCAAGCTCTCCCCTCCTGTCATCCCCTTCATGCCCCTTCTTCTCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0061714=RasGEF=FE(12.7=100)
A:
PF0061714=RasGEF=PD(0.7=33.3)
C2:
PF0061714=RasGEF=FE(15.6=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
CTGCCTCACAAAGTCCGGAAG
R:
GAGAAGAAGGGGCATGAAGGG
Band lengths:
132-180
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