Special

HsaEX6036226 @ hg38

Exon Skipping

Gene
ENSG00000133056 | PIK3C2B
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Source:HGNC Symbol;Acc:HGNC:8972]
Coordinates
chr1:204443417-204444424:-
Coord C1 exon
chr1:204444331-204444424
Coord A exon
chr1:204444068-204444162
Coord C2 exon
chr1:204443417-204443597
Length
95 bp
Sequences
Splice sites
3' ss Seq
TCTCCCTTTCTCCGAAACAGGCC
3' ss Score
9.94
5' ss Seq
CTGGTAAAA
5' ss Score
4.78
Exon sequences
Seq C1 exon
CTTCCCGGACCAGGAGGTGCGTCGTATGGCTGTGCAGTGGATTGGCTCACTCTCAGATGCTGAGCTGCTAGACTACCTGCCCCAGCTGGTACAG
Seq A exon
GCCCTGAAGTATGAATGCTACCTGGACAGCCCGTTGGTGCGCTTCCTCCTGAAACGAGCTGTGTCTGACTTGAGAGTGACTCACTACTTCTTCTG
Seq C2 exon
GTTACTGAAGGACGGCCTCAAGGACTCTCAGTTCAGCATCCGCTACCAGTATCTGCTGGCAGCCTTACTGTGCTGCTGTGGCAAGGGGCTGAGAGAAGAGTTTAACCGCCAGTGCTGGCTTGTCAATGCCCTGGCCAAACTGGCCCAGCAGGTCCGGGAGGCAGCCCCATCTGCAAGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133056-'49-49,'49-48,51-49=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0061315=PI3Ka=FE(16.9=100)
A:
PF0061315=PI3Ka=FE(16.9=100)
C2:
PF0061315=PI3Ka=PD(19.1=57.4)


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:
CGTATGGCTGTGCAGTGGATT
R:
ACTCTTCTCTCAGCCCCTTGC
Band lengths:
173-268
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains