Special

HsaINT0124934 @ hg38

Intron Retention

Gene
ENSG00000011405 | PIK3C2A
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Source:HGNC Symbol;Acc:HGNC:8971]
Coordinates
chr11:17091547-17092068:-
Coord C1 exon
chr11:17091996-17092068
Coord A exon
chr11:17091657-17091995
Coord C2 exon
chr11:17091547-17091656
Length
339 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
GAAAATATTTGTATTTTCAGATG
3' ss Score
7.28
Exon sequences
Seq C1 exon
TGTGATCTTGTTTGTACTTTCTTCCACCCTTTACTTCGTGATGAGAAAGCTGAAGGGATAGCTAGGTCTGCAG
Seq A exon
GTGAGATTATTTTTTTTCTCTTTATTGGTAACTCATGATCTGCAAGTCTGTAACTTCTCGATGAATGTGGTAGAATGACAGCAGGCTTACTAGCTGTAGTCTGAGAATGGGAGGAGAGTATTCTTTCTAAGCCAGTCTATTTCTGAATAAATATAACTTTCCTAATAGATGTGATTACTAAAGAAGTATAAATCAATGACCTATCAGGTTGTTTACTCCTTTTTCCCCTCCCTTCTGTCCGCACCACATGTGACAGTCTTGAAAATAAAGCAAAATCCTTTTATTGCAGCTTGAACCACTACAACCAGTAAATAAAGATGAAAATATTTGTATTTTCAG
Seq C2 exon
ATGCAGGTTCCTTCAGTCCTACTCCAGGCCAAATAGGAGGAGCTGTGAAATTATCCATCTCTTACCGAAATGGTACTCTTTTCATCATGGTGATGCATATCAAAGATCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011405:ENST00000265970:29
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.120 A=NA C2=0.027
Domain overlap (PFAM):

C1:
PF0078719=PX=PD(8.8=40.0)
A:
NA
C2:
PF0016825=C2=PU(11.2=27.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGATCTTGTTTGTACTTTCTTCCA
R:
AGATCTTTGATATGCATCACCATGA
Band lengths:
182-521
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