HsaEX6026385 @ hg38
Exon Skipping
Gene
ENSG00000184792 | OSBP2
Description
oxysterol binding protein 2 [Source:HGNC Symbol;Acc:HGNC:8504]
Coordinates
chr22:30887426-30889234:+
Coord C1 exon
chr22:30887426-30887618
Coord A exon
chr22:30888223-30888340
Coord C2 exon
chr22:30889177-30889234
Length
118 bp
Sequences
Splice sites
3' ss Seq
AGCTCTGTCTGTGTCTCTAGGAA
3' ss Score
10.78
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
GCCTGCAGGGACTTCTTGGAACTAGCAGAGATACACAGTCGGAAATGGCAGCGGGCACTGCAGTATGAGCAGGAGCAGCGCGTGCACTTGGAGGAAACCATTGAGCAGCTGGCGAAGCAGCACAACAGCCTCGAGCGGGCCTTCCACAGTGCCCCTGGCCGGCCGGCCAACCCCTCCAAGAGCTTCATTGAGG
Seq A exon
GAAGCCTCTTGACTCCCAAAGGAGAGGACAGTGAGGAAGATGAAGATACCGAGTACTTTGATGCCATGGAAGACTCCACATCCTTCATCACCGTGATCACCGAGGCCAAGGAAGACAG
Seq C2 exon
CAGAAAAGCTGAAGGTAGCACCGGGACAAGTTCCGTGGACTGGAGCTCAGCAGACAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184792-'29-42,'29-39,31-42=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.587 A=0.708 C2=0.811
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGCAGGGACTTCTTGGAAC
R:
ATTGTCTGCTGAGCTCCAGTC
Band lengths:
250-368
Functional annotations
There are 1 annotated functions for this event
PMID: 15212954
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: glutathione s tranferase tag, pull down. ELM ID: ELMI001271; ELM sequence: EDEDTEYFDAME; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains