HsaEX6002098 @ hg19
Exon Skipping
Gene
ENSG00000110048 | OSBP
Description
oxysterol binding protein [Source:HGNC Symbol;Acc:8503]
Coordinates
chr11:59368292-59369311:-
Coord C1 exon
chr11:59369113-59369311
Coord A exon
chr11:59368756-59368858
Coord C2 exon
chr11:59368292-59368346
Length
103 bp
Sequences
Splice sites
3' ss Seq
TGGGGCTTTTCTTCTTGTAGATC
3' ss Score
9.3
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
GCCTGCAGAGATTTCCTCATGTTAGCCCAGACCCATAGTAAAAAATGGCAAAAGTCACTACAGTATGAAAGAGACCAGCGTATCCGACTGGAAGAAACCCTCGAGCAGCTGGCGAAGCAGCATAATCACCTGGAGAGGGCCTTCCGAGGAGCCACGGTGCTGCCGGCAAACACTCCTGGCAATGTGGGTTCTGGTAAAG
Seq A exon
ATCAGTGCTGCTCTGGCAAAGGGGACATGAGCGATGAAGATGATGAGAATGAATTTTTTGATGCACCTGAGATCATCACCATGCCTGAAAATTTGGGCCACAA
Seq C2 exon
ACGTACTGGCAGCAATATCAGTGGAGCCAGCAGTGACATCAGCCTTGATGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110048-'4-4,'4-3,5-4=AN
Average complexity
A_S
Mappability confidence:
88%=100=75%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.507 A=0.857 C2=0.789
Domain overlap (PFAM):
C1:
PF0247911=Herpes_IE68=PD(73.8=92.5)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGCAGAGATTTCCTCATGT
R:
TCAAGGCTGATGTCACTGCTG
Band lengths:
247-350
Functional annotations
There are 1 annotated functions for this event
PMID: 12727870
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: classical fluorescence spectroscopy, confocal microscopy, glutathione s tranferase tag, green fluorescent protein tag, mutation analysis, pull down. ELM ID: ELMI001275; ELM sequence: EDDENEFFDAPE; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)