Special

HsaEX0047502 @ hg38

Exon Skipping

Gene
ENSG00000011405 | PIK3C2A
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Source:HGNC Symbol;Acc:HGNC:8971]
Coordinates
chr11:17150498-17169741:-
Coord C1 exon
chr11:17168677-17169741
Coord A exon
chr11:17155526-17155629
Coord C2 exon
chr11:17150498-17150655
Length
104 bp
Sequences
Splice sites
3' ss Seq
AAACACTTTTTTAATTACAGAAA
3' ss Score
5.66
5' ss Seq
AAAGTAAGG
5' ss Score
6.6
Exon sequences
Seq C1 exon
TTCCGGGACAATCTCCATATTTCTCATATCCTTTGACACCTGCCACACCCTTTCATCCACAAGGAAGCTTACCTATCTATCGTCCAGTAGTCAGTACTGACATGGCAAAACTATTTGACAAAATAGCTAGTACATCAGAATTTTTAAAAAATGGGAAAGCAAGGACTGATTTGGAGATAACAGATTCAAAAGTCAGCAATCTACAGGTATCTCCAAAGTCTGAGGATATCAGTAAATTTGACTGGTTAGACTTGGATCCTCTAAGTAAGCCTAAGGTGGATAATGTGGAGGTATTAGACCATGAGGAAGAGAAAAATGTTTCAAGTTTGCTAGCAAAGGATCCTTGGGATGCTGTTCTTCTTGAAGAGAGATCGACAGCAAATTGTCATCTTGAAAGAAAGGTGAATGGAAAATCCCTTTCTGTGGCAACTGTTACAAGAAGCCAGTCTTTAAATATTCGAACAACTCAGCTTGCAAAAGCCCAGGGCCATATATCTCAG
Seq A exon
AAAGACCCAAATGGGACCAGTAGTTTGCCAACTGGAAGTTCTCTTCTTCAAGAAGTTGAAGTACAGAATGAGGAGATGGCAGCTTTTTGTCGATCCATTACAAA
Seq C2 exon
ATTGAAGACCAAATTTCCATATACCAATCACCGCACAAACCCAGGCTATTTGTTAAGTCCAGTCACAGCACAAAGAAACATATGCGGAGAAAATGCTAGTGTGAAGGTCTCCATTGACATTGAAGGATTTCAGCTACCAGTTACTTTTACGTGTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011405_MULTIEX1-4/4=3-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.276 A=0.457 C2=0.003
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0079413=PI3K_rbd=PU(32.7=63.0)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000265970fB22546


Other Inclusion Isoforms:


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:
TGCTAGCAAAGGATCCTTGGG
R:
TCTTTGTGCTGTGACTGGACT
Band lengths:
249-353
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development