HsaEX6055279 @ hg38
Exon Skipping
Gene
ENSG00000168036 | CTNNB1
Description
catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514]
Coordinates
chr3:41236349-41238076:+
Coord C1 exon
chr3:41236349-41236499
Coord A exon
chr3:41236588-41236709
Coord C2 exon
chr3:41238016-41238076
Length
122 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTCCTTGTCTCTTAGCGA
3' ss Score
9.07
5' ss Seq
GAGGTAGGG
5' ss Score
7.81
Exon sequences
Seq C1 exon
CTGCTTTATTCTCCCATTGAAAACATCCAAAGAGTAGCTGCAGGGGTCCTCTGTGAACTTGCTCAGGACAAGGAAGCTGCAGAAGCTATTGAAGCTGAGGGAGCCACAGCTCCTCTGACAGAGTTACTTCACTCTAGGAATGAAGGTGTGG
Seq A exon
CGACATATGCAGCTGCTGTTTTGTTCCGAATGTCTGAGGACAAGCCACAAGATTACAAGAAACGGCTTTCAGTTGAGCTGACCAGCTCTCTCTTCAGAACAGAGCCAATGGCTTGGAATGAG
Seq C2 exon
ACTGCTGATCTTGGACTTGATATTGGTGCCCAGGGAGAACCCCTTGGATATCGCCAGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168036-'43-54,'43-50,44-54
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.118 A=0.024 C2=0.714
Domain overlap (PFAM):
C1:
PF0051418=Arm=PD(51.2=41.2)
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:
TGCTTTATTCTCCCATTGAAAACA
R:
ATCCTGGCGATATCCAAGGGG
Band lengths:
210-332
Functional annotations
There are 1 annotated functions for this event
PMID: 16476742
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, protein kinase assay, western blot. ELM ID: ELMI001503; ELM sequence: KRLSVEL; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains