Special

HsaEX6055279 @ hg19

Exon Skipping

Gene
ENSG00000168036 | CTNNB1
Description
catenin (cadherin-associated protein), beta 1, 88kDa [Source:HGNC Symbol;Acc:2514]
Coordinates
chr3:41277840-41279567:+
Coord C1 exon
chr3:41277840-41277990
Coord A exon
chr3:41278079-41278200
Coord C2 exon
chr3:41279507-41279567
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-'28-36,'28-35,29-36=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=0.104 A=0.024 C2=0.714
Domain overlap (PFAM):

C1:
PF0051418=Arm=PD(51.2=41.2),PF0051418=Arm=PU(68.3=54.9)
A:
PF0051418=Arm=PD(29.3=29.3)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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