Special

HsaEX0047508 @ hg38

Exon Skipping

Gene
ENSG00000011405 | PIK3C2A
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Source:HGNC Symbol;Acc:HGNC:8971]
Coordinates
chr11:17099860-17102831:-
Coord C1 exon
chr11:17102662-17102831
Coord A exon
chr11:17101278-17101434
Coord C2 exon
chr11:17099860-17099969
Length
157 bp
Sequences
Splice sites
3' ss Seq
TGTACTTTCATTTTAAATAGGGA
3' ss Score
8.73
5' ss Seq
CTGGTAACT
5' ss Score
5.45
Exon sequences
Seq C1 exon
GCTTCAGAGAACTTTATCTATTCCTGTGCTGGATGCTGTGTAGCCACCTATGTTTTAGGCATCTGTGATCGACACAATGACAATATAATGCTTCGAAGCACGGGACACATGTTTCACATTGACTTTGGAAAGTTTTTGGGACATGCACAGATGTTTGGCAGCTTCAAAAG
Seq A exon
GGATCGGGCTCCTTTTGTGCTGACCTCTGATATGGCATATGTCATTAATGGGGGTGAAAAGCCCACCATTCGTTTTCAGTTGTTTGTGGACCTCTGCTGTCAGGCCTACAACTTGATAAGAAAGCAGACAAACCTTTTTCTTAACCTCCTTTCACTG
Seq C2 exon
ATGATTCCTTCAGGGTTACCAGAACTTACAAGTATTCAAGATTTGAAATACGTTAGAGATGCACTTCAACCCCAAACTACAGACGCAGAAGCTACAATTTTCTTTACTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011405_MULTIEX5-3/3=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0045422=PI3_PI4_kinase=FE(25.9=100)
A:
PF0045422=PI3_PI4_kinase=FE(24.1=100)
C2:
PF0045422=PI3_PI4_kinase=PD(4.6=27.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCCTGTGCTGGATGCTGTG
R:
AGCTTCTGCGTCTGTAGTTTGG
Band lengths:
244-401
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