Special

HsaEX1028096 @ hg38

Exon Skipping

Gene
ENSG00000133056 | PIK3C2B
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Source:HGNC Symbol;Acc:HGNC:8972]
Coordinates
chr1:204445956-204447578:-
Coord C1 exon
chr1:204447436-204447578
Coord A exon
chr1:204446925-204447023
Coord C2 exon
chr1:204445956-204446144
Length
99 bp
Sequences
Splice sites
3' ss Seq
CCCTGTCACTTTCCAAAAAGGAT
3' ss Score
7.29
5' ss Seq
GGGGTGAGA
5' ss Score
4.74
Exon sequences
Seq C1 exon
ATTGACTTCCCCACCTCGGCCTTTGACATCAAGTTCACCAGCCCCCCTGGAGACAAGTTCAGCCCCCGCTATGAGTTTGGCAGCCTCCGGGAAGAAGACCAGCGCAAGCTTAAAGACATCATGCAGAAAGAGTCCTTGTACTG
Seq A exon
GATCAGGTGTCAAGGCAAGCTGGCAGCTCTCAGGGGTACGTGAGTCCAGGCTGATCTCATCCTTGGGGCTGCTGCTTTCACAGGATTGGAGAAGGAGGG
Seq C2 exon
GCTCACTGATGCTGACAAGAAGCGCCTGTGGGAGAAGCGATATTACTGCCACTCGGAGGTGAGCTCGCTCCCCCTGGTGCTCGCCAGCGCCCCCAGCTGGGAGTGGGCTTGCCTGCCTGACATCTATGTTCTCCTGAAGCAGTGGACCCACATGAACCACCAGGATGCCCTGGGGCTCCTGCATGCCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133056_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.042 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0079219=PI3K_C2=PD(3.5=10.4),PF0061315=PI3Ka=PU(11.5=43.8)
A:
NO
C2:
PF0061315=PI3Ka=FE(34.4=100)


Main Inclusion Isoform:
ENST00000367187fB22550


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACATCAAGTTCACCAGCCCC
R:
TCACCTCCGAGTGGCAGTAAT
Band lengths:
181-280
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains