HsaEX0044858 @ hg38
Exon Skipping
Gene
ENSG00000184792 | OSBP2
Description
oxysterol binding protein 2 [Source:HGNC Symbol;Acc:HGNC:8504]
Coordinates
chr22:30889177-30890973:+
Coord C1 exon
chr22:30889177-30889234
Coord A exon
chr22:30889490-30889636
Coord C2 exon
chr22:30890728-30890973
Length
147 bp
Sequences
Splice sites
3' ss Seq
GGTCCCCACTTATGTGGCAGGTA
3' ss Score
6.47
5' ss Seq
CCGGTGGGT
5' ss Score
7.85
Exon sequences
Seq C1 exon
CAGAAAAGCTGAAGGTAGCACCGGGACAAGTTCCGTGGACTGGAGCTCAGCAGACAAT
Seq A exon
GTACTAGATGGTGCCTCGCTCGTGCCCAAGGGTTCATCCAAAGTCAAGAGGCGAGTCCGCATTCCCAACAAGCCCAACTACAGCCTTAACCTCTGGAGCATCATGAAGAACTGCATCGGCCGGGAGCTCTCCAGGATCCCCATGCCG
Seq C2 exon
GTGAACTTCAATGAGCCCCTGTCCATGCTCCAGCGGCTGACAGAGGACCTGGAGTACCACCACCTGCTGGACAAGGCAGTGCACTGCACCAGCTCAGTGGAGCAGATGTGCCTGGTGGCCGCCTTCTCTGTGTCCTCCTACTCCACCACAGTGCACCGCATCGCCAAGCCCTTCAACCCCATGCTGGGGGAGACCTTCGAGCTGGACCGCCTCGACGACATGGGCCTGCGCTCCCTCTGTGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184792_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.811 A=0.120 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0123713=Oxysterol_BP=PU(17.9=38.0)
C2:
PF0123713=Oxysterol_BP=FE(21.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
GACAAGTTCCGTGGACTGGAG
R:
GGTCCAGCTCGAAGGTCTCC
Band lengths:
242-389
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
[CRISPR screen]. This alternative exon is implicated in cell fitness by a CRISPR-based exon deletion phenotypic screen in RPE-1 cells.
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