Special

HsaEX0047513 @ hg38

Exon Skipping

Gene
ENSG00000011405 | PIK3C2A
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Source:HGNC Symbol;Acc:HGNC:8971]
Coordinates
chr11:17092159-17097264:-
Coord C1 exon
chr11:17097057-17097264
Coord A exon
chr11:17094261-17094385
Coord C2 exon
chr11:17092159-17092276
Length
125 bp
Sequences
Splice sites
3' ss Seq
GTGGTGTGATTTCTTTTCAGATT
3' ss Score
9.36
5' ss Seq
AGGGTATGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
GCTTATTGAATCAAGTTTGGGAAGCATTGCCACAAAGTTTAACTTCTTCATTCACAACCTTGCTCAGCTTCGTTTTTCTGGTCTTCCTTCTAATGATGAGCCCATCCTTTCATTTTCACCTAAAACATACTCCTTTAGACAAGATGGTCGAATCAAGGAAGTCTCTGTTTTTACATATCATAAGAAATACAACCCAGATAAACATTAT
Seq A exon
ATTTATGTAGTCCGAATTTTGAGGGAAGGACAGATTGAACCATCATTTGTCTTCCGAACATTTGACGAATTTCAGGAACTTCACAATAAGCTCAGTATTATTTTTCCACTTTGGAAGTTACCAGG
Seq C2 exon
CTTTCCTAATAGGATGGTTCTAGGAAGAACACACATAAAAGATGTAGCAGCCAAAAGGAAAATTGAGTTAAACAGTTACTTACAGAGTTTGATGAATGCTTCAACGGATGTAGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011405_MULTIEX3-3/3=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:
PF0078719=PX=PU(17.7=28.6)
A:
PF0078719=PX=FE(36.3=100)
C2:
PF0078719=PX=FE(34.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTTCTAATGATGAGCCCATCCT
R:
CTCTGCTACATCCGTTGAAGCA
Band lengths:
242-367
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development