Special

HsaEX6000996 @ hg38

Exon Skipping

Gene
ENSG00000011405 | PIK3C2A
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Source:HGNC Symbol;Acc:HGNC:8971]
Coordinates
chr11:17099860-17105305:-
Coord C1 exon
chr11:17105169-17105305
Coord A exon
chr11:17102662-17102831
Coord C2 exon
chr11:17099860-17099969
Length
170 bp
Sequences
Splice sites
3' ss Seq
ATTGTGTATGTTTTTTATAGGCT
3' ss Score
8.1
5' ss Seq
AAGGTATAA
5' ss Score
7.08
Exon sequences
Seq C1 exon
GCATGGTGGAGCTGGTTCCTGCTTCCGATACCCTCAGGAAAATCCAAGTGGAATATGGTGTGACAGGATCCTTTAAAGATAAACCACTTGCAGAGTGGCTAAGGAAATACAATCCCTCTGAAGAAGAATATGAAAAG
Seq A exon
GCTTCAGAGAACTTTATCTATTCCTGTGCTGGATGCTGTGTAGCCACCTATGTTTTAGGCATCTGTGATCGACACAATGACAATATAATGCTTCGAAGCACGGGACACATGTTTCACATTGACTTTGGAAAGTTTTTGGGACATGCACAGATGTTTGGCAGCTTCAAAAG
Seq C2 exon
ATGATTCCTTCAGGGTTACCAGAACTTACAAGTATTCAAGATTTGAAATACGTTAGAGATGCACTTCAACCCCAAACTACAGACGCAGAAGCTACAATTTTCTTTACTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011405_MULTIEX5-2/3=1-C2
Average complexity
C3
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(20.8=100)
A:
PF0045422=PI3_PI4_kinase=FE(25.9=100)
C2:
PF0045422=PI3_PI4_kinase=PD(4.6=27.0)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000265970fB22548


Other Inclusion Isoforms:
NA


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:
GCATGGTGGAGCTGGTTCC
R:
AAAGAAAATTGTAGCTTCTGCGTCTG
Band lengths:
242-412
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains