HsaEX0047515 @ hg19
Exon Skipping
Gene
ENSG00000011405 | PIK3C2A
Description
phosphoinositide-3-kinase, class 2, alpha polypeptide [Source:HGNC Symbol;Acc:8971]
Coordinates
chr11:17177073-17231129:-
Coord C1 exon
chr11:17229395-17231129
Coord A exon
chr11:17190224-17191353
Coord C2 exon
chr11:17177073-17177176
Length
1130 bp
Sequences
Splice sites
3' ss Seq
ATGTTTATTTTTATGTATAGGCC
3' ss Score
7.56
5' ss Seq
CAGGTATAG
5' ss Score
8.73
Exon sequences
Seq C1 exon
AGATGGAGGAGGGTGCGGGGTCCCGGGAGAGGGGATGAGAACAATAGGGTACTTCAGTGCCCGGGCCCTGTTTAGCGGGTCTTCGGACTCAGGGCCCGAGGGGCGGCCAGCTGGGGTGTCCGGAGAGCTCCCCTCCCCAGGTCTGGGGTGTGCACGGAGAGGCGTCCAGAGCCTGCTCAGCATTCCTCGGGAGAGAGCCAGACCCTGGTCCCCCGGGCCCGTGCGCCCCAGCGCCCCAGCTCCCTTGCTCACGCCACCCCGGCAGCGTCCAAGCCCCGCCCGCCAGCTCAGGTAGGCCGTCCGCGCCAGCCAATTCGCAACAAGTCCGGGCGGGGAAGGCGGTGCTTCCCTGTCCGGAAGTGACGTGCTGCGCTTGGCTGGCTGTGGAGTCGGCCGAAGCTTTCGGCGGCGGCTGAGCCAGCTGAGGGGAAAAATGGCTCGGACTGTGGCGGCTTCGGCGGCTCAGGTTGTGGTAGAGGCGGAGGCTCAGGCAGCTTGAG
Seq A exon
GCCTTGCTATTTTGGAAGCTACAAGAAAAAAATAGAGGAAGGAAGGTTTGGTCTTTTTAGTGGACATGGCTCAGATATCTAGCAACAGCGGATTTAAAGAATGTCCATCTTCACATCCGGAACCAACAAGAGCAAAAGATGTGGACAAAGAAGAAGCATTACAGATGGAAGCAGAGGCTTTAGCAAAACTGCAAAAGGATAGACAAGTGACTGACAATCAGAGAGGCTTTGAGTTGTCAAGCAGCACCAGAAAAAAAGCACAGGTTTATAACAAGCAGGATTATGATCTCATGGTGTTTCCTGAATCAGATTCCCAAAAAAGAGCATTAGATATTGATGTAGAAAAGCTCACCCAAGCTGAACTTGAGAAACTATTGCTGGATGACAGTTTCGAGACTAAAAAAACACCTGTATTACCAGTTACTCCTATTCTGAGCCCTTCCTTTTCAGCACAGCTCTATTTTAGACCTACTATTCAGAGAGGACAGTGGCCACCTGGATTACCTGGGCCTTCCACTTATGCTTTACCTTCTATTTATCCTTCTACTTACAGTAAACAGGCTGCATTCCAAAATGGCTTCAATCCAAGAATGCCCACTTTTCCATCTACAGAACCTATATATTTAAGTCTTCCGGGACAATCTCCATATTTCTCATATCCTTTGACACCTGCCACACCCTTTCATCCACAAGGAAGCTTACCTATCTATCGTCCAGTAGTCAGTACTGACATGGCAAAACTATTTGACAAAATAGCTAGTACATCAGAATTTTTAAAAAATGGGAAAGCAAGGACTGATTTGGAGATAACAGATTCAAAAGTCAGCAATCTACAGGTATCTCCAAAGTCTGAGGATATCAGTAAATTTGACTGGTTAGACTTGGATCCTCTAAGTAAGCCTAAGGTGGATAATGTGGAGGTATTAGACCATGAGGAAGAGAAAAATGTTTCAAGTTTGCTAGCAAAGGATCCTTGGGATGCTGTTCTTCTTGAAGAGAGATCGACAGCAAATTGTCATCTTGAAAGAAAGGTGAATGGAAAATCCCTTTCTGTGGCAACTGTTACAAGAAGCCAGTCTTTAAATATTCGAACAACTCAGCTTGCAAAAGCCCAGGGCCATATATCTCAG
Seq C2 exon
AAAGACCCAAATGGGACCAGTAGTTTGCCAACTGGAAGTTCTCTTCTTCAAGAAGTTGAAGTACAGAATGAGGAGATGGCAGCTTTTTGTCGATCCATTACAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011405_MULTIEX2-3/3=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.282 C2=0.457
Domain overlap (PFAM):
C1:
NA
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:
GCTCAGCATTCCTCGGGAGA
R:
GTTGGCAAACTACTGGTCCCA
Band lengths:
358-1488
Functional annotations
There are 1 annotated functions for this event
PMID: 12719431
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, de novo protein sequencing by mass spectrometry, electrophoretic mobility supershift assay, inhibitor, protein kinase assay, western blot. ELM ID: ELMI003240; ELM sequence: LQVSPK; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)