Special

HsaEX0047526 @ hg38

Exon Skipping

Gene
ENSG00000133056 | PIK3C2B
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Source:HGNC Symbol;Acc:HGNC:8972]
Coordinates
chr1:204428139-204431793:-
Coord C1 exon
chr1:204431669-204431793
Coord A exon
chr1:204429921-204430038
Coord C2 exon
chr1:204428139-204428220
Length
118 bp
Sequences
Splice sites
3' ss Seq
TGCCTACGCTGCCACGCCAGCTT
3' ss Score
1.92
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
ATATATGTGGTAAAGGTGATGCGAGAGAACACTCACGAGGCCACCTACATCCAGCGGACCTTTGAGGAGTTCCAGGAATTACACAATAAGTTGCGGCTGCTCTTCCCTTCTTCCCACTTGCCCAG
Seq A exon
CTTCCCTAGTCGCTTCGTGATCGGCCGCTCCCGGGGAGAGGCGGTGGCCGAGCGGCGGAGGGAGGAGCTAAACGGTTACATCTGGCACTTGATCCACGCACCCCCTGAGGTGGCCGAG
Seq C2 exon
TGTGATTTGGTGTACACCTTCTTCCACCCACTGCCCCGGGATGAGAAGGCTATGGGCACCAGCCCAGCTCCTAAGTCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133056_MULTIEX3-2/4=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.464
Domain overlap (PFAM):

C1:
PF0078719=PX=FE(36.3=100)
A:
PF0078719=PX=FE(34.5=100)
C2:
PF0078719=PX=PD(8.8=35.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
TGTGGTAAAGGTGATGCGAGA
R:
CTGAGGACTTAGGAGCTGGGC
Band lengths:
202-320
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development