HsaEX6093067 @ hg38
Exon Skipping
Gene
ENSG00000205517 | RGL3
Description
ral guanine nucleotide dissociation stimulator like 3 [Source:HGNC Symbol;Acc:HGNC:30282]
Coordinates
chr19:11406722-11418784:-
Coord C1 exon
chr19:11418671-11418784
Coord A exon
chr19:11416763-11417059
Coord C2 exon
chr19:11406722-11406864
Length
297 bp
Sequences
Splice sites
3' ss Seq
CCACCTCTCCCCTCCTGCAGGCT
3' ss Score
11.62
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
Exon sequences
Seq C1 exon
GCACCGCTGCAGGACTGGGGTGAAGAGACCGAGGACGGCGCGGTGTACAGTGTCTCCCTGCGGCGGCAGCGCAGTCAGCGCAGGAGCCCGGCGGAGGGCCCCGGGGGCAGCCAG
Seq A exon
GCTCCCAGCCCCATTGCCAATACCTTCCTCCACTATCGAACCAGCAAGGTGAGGGTGCTGAGGGCAGCGCGCCTGGAGCGGCTGGTGGGAGAGTTGGTGTTTGGAGACCGTGAGCAGGACCCCAGCTTCATGCCCGCCTTCCTGGCCACCTACCGGACCTTTGTACCCACTGCCTGCCTGCTGGGCTTTCTGCTGCCACCAATGCCACCGCCCCCACCTCCCGGGTCAGTAGCGAACCATAACCTCCGTATTCTCCACCCTAGAACCCCAACTGGGCACCCCCCTCCACCTCCTCAG
Seq C2 exon
GACCTCCCAGAGTTGCCCAAACTTCTGACCCAGACTCTTCAGAGGCCTGCGCGGAGGAAGAGGAAGGGCTCATGCCTCAAGGTCCCCAGCTCCTGGACTTCAGCGTGGACGAGGTGGCCGAGCAGCTGACCCTCATAGACTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000205517_MULTIEX5-1/4=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.682 A=0.193 C2=0.551
Domain overlap (PFAM):
C1:
NO
A:
PF0061815=RasGEF_N=PU(52.3=74.7)
C2:
PF0061714=RasGEF=PU(7.6=33.3)
Main Skipping Isoform:
NA
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:
GCTGCAGGACTGGGGTGAA
R:
CAAGTCTATGAGGGTCAGCTGC
Band lengths:
252-549
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains