Special

HsaEX6055282 @ hg19

Exon Skipping

Gene
ENSG00000168036 | CTNNB1
Description
catenin (cadherin-associated protein), beta 1, 88kDa [Source:HGNC Symbol;Acc:2514]
Coordinates
chr3:41275020-41277334:+
Coord C1 exon
chr3:41275020-41275358
Coord A exon
chr3:41275630-41275788
Coord C2 exon
chr3:41277215-41277334
Length
159 bp
Sequences
Splice sites
3' ss Seq
TTCTTCCTTCTGTTTTTCAGGCT
3' ss Score
10.5
5' ss Seq
GTGGTAGGT
5' ss Score
7.23
Exon sequences
Seq C1 exon
GAAGGGATGGAAGGTCTCCTTGGGACTCTTGTTCAGCTTCTGGGTTCAGATGATATAAATGTGGTCACCTGTGCAGCTGGAATTCTTTCTAACCTCACTTGCAATAATTATAAGAACAAGATGATGGTCTGCCAAGTGGGTGGTATAGAGGCTCTTGTGCGTACTGTCCTTCGGGCTGGTGACAGGGAAGACATCACTGAGCCTGCCATCTGTGCTCTTCGTCATCTGACCAGCCGACACCAAGAAGCAGAGATGGCCCAGAATGCAGTTCGCCTTCACTATGGACTACCAGTTGTGGTTAAGCTCTTACACCCACCATCCCACTGGCCTCTGATAAAG
Seq A exon
GCTACTGTTGGATTGATTCGAAATCTTGCCCTTTGTCCCGCAAATCATGCACCTTTGCGTGAGCAGGGTGCCATTCCACGACTAGTTCAGTTGCTTGTTCGTGCACATCAGGATACCCAGCGCCGTACGTCCATGGGTGGGACACAGCAGCAATTTGTG
Seq C2 exon
GAGGGGGTCCGCATGGAAGAAATAGTTGAAGGTTGTACCGGAGCCCTTCACATCCTAGCTCGGGATGTTCACAACCGAATTGTTATCAGAGGACTAAATACCATTCCATTGTTTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168036-'24-32,'24-28,26-32=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.208 C2=0.000
Domain overlap (PFAM):

C1:
PF0051418=Arm=WD(100=29.2),PF0051418=Arm=WD(100=38.1)
A:
PF0051418=Arm=WD(100=60.4)
C2:
PF0051418=Arm=PU(43.9=45.0)


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:
GAGGCTCTTGTGCGTACTGTC
R:
TCCCGAGCTAGGATGTGAAGG
Band lengths:
257-416
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: ELMI001502; ELM sequence: RRTSMGG; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains