Special

HsaEX6026385 @ hg19

Exon Skipping

Gene
Description
oxysterol binding protein 2 [Source:HGNC Symbol;Acc:8504]
Coordinates
chr22:31283413-31285221:+
Coord C1 exon
chr22:31283413-31283605
Coord A exon
chr22:31284210-31284327
Coord C2 exon
chr22:31285164-31285221
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-'17-19,'17-18,18-19=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=0.589 A=0.723 C2=0.816
Domain overlap (PFAM):

C1:
PF0247911=Herpes_IE68=WD(100=87.7)
A:
NO
C2:
PF0123713=Oxysterol_BP=PU(0.6=10.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
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
This event
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