HsaEX0053327 @ hg38
Exon Skipping
Gene
ENSG00000205517 | RGL3
Description
ral guanine nucleotide dissociation stimulator like 3 [Source:HGNC Symbol;Acc:HGNC:30282]
Coordinates
chr19:11405147-11406634:-
Coord C1 exon
chr19:11406419-11406634
Coord A exon
chr19:11405323-11405426
Coord C2 exon
chr19:11405147-11405231
Length
104 bp
Sequences
Splice sites
3' ss Seq
GCGTCCCCACCGCCTGGCAGCGC
3' ss Score
5.63
5' ss Seq
CCGGTGAGC
5' ss Score
8.69
Exon sequences
Seq C1 exon
GAGCTCTTCTCCAAGGTGAGGCTCTACGAGTGCTTGGGCTCCGTGTGGTCGCAGAGGGACCGGCCGGGGGCTGCAGGCGCCTCCCCCACTGTGCGCGCCACCGTGGCCCAGTTCAACACCGTGACCGGCTGTGTGCTGGGTTCCGTGCTCGGAGCACCGGGCTTGGCCGCCCCGCAGAGGGCGCAGCGGCTGGAGAAGTGGATCCGCATCGCCCAG
Seq A exon
CGCTGCCGAGAACTGCGGAACTTCTCCTCCTTGCGCGCCATCCTGTCCGCCCTGCAATCTAACCCCATCTACCGGCTCAAGCGCAGCTGGGGGGCAGTGAGCCG
Seq C2 exon
GGAACCGCTATCTACTTTCAGGAAACTTTCGCAGATTTTCTCCGATGAGAACAACCACCTCAGCAGCAGAGAGATTCTTTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000205517_MULTIEX1-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.120 A=0.000 C2=0.146
Domain overlap (PFAM):
C1:
PF0061714=RasGEF=PU(83.6=98.4)
A:
PF0061714=RasGEF=FE(16.1=100)
C2:
PF0061714=RasGEF=PD(15.1=64.7)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTACGAGTGCTTGGGCTCC
R:
TGAGGTGGTTGTTCTCATCGG
Band lengths:
257-361
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