HsaEX0052090 @ hg38
Exon Skipping
Gene
ENSG00000136828 | RALGPS1
Description
Ral GEF with PH domain and SH3 binding motif 1 [Source:HGNC Symbol;Acc:HGNC:16851]
Coordinates
chr9:127196474-127212236:+
Coord C1 exon
chr9:127196474-127196631
Coord A exon
chr9:127199015-127199066
Coord C2 exon
chr9:127212131-127212236
Length
52 bp
Sequences
Splice sites
3' ss Seq
GACCTGTGTTCCTTTTCCAGGCA
3' ss Score
11.29
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TATGATGTGTCAGTTGAGTGTAGTTGAGAGTAAAAGTGCGACATTCCCATCGGAGAAAGCAAGGCACCTACTGGACGACAGTGTCCTAGAGTCCCGCAGCCCCCGAAGGGGCCTGGCTCTGACCTCCTCCTCTGCTGTCACCAATGGACTCTCCCTAG
Seq A exon
GCAGTAGTGAGAGCTCAGAGTTTAGTGAAGAGATGTCTTCAGGGCTGGAAAG
Seq C2 exon
CCCCACCGGCCCGTGCATCTGTTCTCTGGGGAACTCCGCAGCTGTGCCCACCATGGAGGGGCCTCTGAGAAGAAAAACCCTGCTCAAGGAAGGGCGGAAGCCTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136828-'53-66,'53-59,55-66
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.500 A=0.778 C2=0.285
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0016924=PH=PU(17.0=52.8)
Main Skipping Isoform:
ENST00000259351fB24061
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGAGAAAGCAAGGCACCTAC
R:
CGGAGTTCCCCAGAGAACAGA
Band lengths:
146-198
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