HsaEX6055286 @ hg38
Exon Skipping
Gene
ENSG00000168036 | CTNNB1
Description
catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514]
Coordinates
chr3:41224954-41225861:+
Coord C1 exon
chr3:41224954-41225207
Coord A exon
chr3:41225334-41225572
Coord C2 exon
chr3:41225660-41225861
Length
239 bp
Sequences
Splice sites
3' ss Seq
TCTGAATTCCTGTATTACAGGTG
3' ss Score
7.91
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
ATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGACAAAACTGCTAAATGACGAGGACCAG
Seq A exon
GTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAAAAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGTACCATGCAGAATACAAATGATGTAGAAACAGCTCGTTGTACCGCTGGGACCTTGCATAACCTTTCCCATCATCGTGAGGGCTTACTGGCCATCTTTAAGTCTGGAGGCATTCCTGCCCTGGTGAAAATGCTTGG
Seq C2 exon
TTCACCAGTGGATTCTGTGTTGTTTTATGCCATTACAACTCTCCACAACCTTTTATTACATCAAGAAGGAGCTAAAATGGCAGTGCGTTTAGCTGGTGGGCTGCAGAAAATGGTTGCCTTGCTCAACAAAACAAATGTTAAATTCTTGGCTATTACGACAGACTGCCTTCAAATTTTAGCTTATGGCAACCAAGAAAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168036-'22-27,'22-25,24-27=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=0.396 A=0.100 C2=0.000
Domain overlap (PFAM):
C1:
PF136461=HEAT_2=PU(46.1=55.3)
A:
PF136461=HEAT_2=PD(52.0=66.2),PF0051418=Arm=PU(51.2=26.2)
C2:
PF0051418=Arm=PD(46.3=27.9)
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:
ACGAGCTGCTATGTTCCCTGA
R:
CGCACTGCCATTTTAGCTCCT
Band lengths:
301-540
Functional annotations
There are 1 annotated functions for this event
PMID: 11533658
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, coimmunoprecipitation, glutathione s tranferase tag, phosphatase assay, pull down. ELM ID: ELMI001964; ELM sequence: MLGSPV; Overlap: PARTIAL_RIGHT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains