Special

HsaINT0124935 @ hg38

Intron Retention

Gene
ENSG00000011405 | PIK3C2A
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Source:HGNC Symbol;Acc:HGNC:8971]
Coordinates
chr11:17148667-17150655:-
Coord C1 exon
chr11:17150498-17150655
Coord A exon
chr11:17148788-17150497
Coord C2 exon
chr11:17148667-17148787
Length
1710 bp
Sequences
Splice sites
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
3' ss Seq
AATGACTAACTCTTTTACAGTGA
3' ss Score
6
Exon sequences
Seq C1 exon
ATTGAAGACCAAATTTCCATATACCAATCACCGCACAAACCCAGGCTATTTGTTAAGTCCAGTCACAGCACAAAGAAACATATGCGGAGAAAATGCTAGTGTGAAGGTCTCCATTGACATTGAAGGATTTCAGCTACCAGTTACTTTTACGTGTGATG
Seq A exon
GTAGGTTTATGGTTCCTCAAGCCTCTCGTTTTGCTCTGTTAGGGGGAAATGTTTAAAATATCAATATTATCATTCTTTTAATAAACCAATTTTGTTATGTGTCTTTTTGGCATTCATATGGATAGTTTTCTCGTTAGAACTAGTGGGGAATCAGGTTACCTTTATAAATAGATAATTATCTGAAAAGTGCTAAGTAACTTTTGTTAATCAGTGGCTCTTGGCCAAGGCTGAAAAGCATTAGATAGAAAAGCTAATTATAATTTAATTCTTTATTTTTCTCCTTCATTTTATGACAGGAAGCATGCTTGCTTATAAAGAGCTGTCAGTGAAATTGAAATTCCAGATATCTTGCTAAGTTCTTCTGTGGAGAAGATAATTCTCTTTTATTTTAATCCTTTCTTCCAAACTTGGTATGGGTGTCCTCTCTAGAGATGTATTCCCAAAGTCTGTAGGAAATTTTTTTTATAGTTTTAAAAACTAATTTTATTTCCTTGCAGAGTTTATTGCATTTCATAATATATATTATCTTAACGGGATTCCAACCAAGGAATGAGATCCTGTATTTCTACAGTACTTTGGCCTAAGAATTATGCTGTTTTTATTCTTTAATGGTTATGACTAGGAATGTGTCTAATATTCAGATACATTCTTTCTAGCTTTGTACTTTTGAAGGCCCTTTGAAAAAATATAAATCTGAAACAGAAAACCATTAGCTACTGTAACAATTATTCTTTTAGTTGTTAAAGGAAAAGTTTTGTGTTTTTTTGTTGTTGTTGTTGTTTTTTGAGAGAGAGTCTCACTCTGCCACCCAGGCAGGAGTGCAGTGGCATGATCTTGGCTCACTGCAGTGAGGGTGACAGAGTTAGACCCCATCTCAAAAATACAGCCTACCTGCTGTATTTTTATTTTTCATTGGAAAATATACCAGGCAAATGTCAAACATTTAAAATGGTGAATCTTTTTCTTATAATTCATTTTAAATCATTGTTTGCTAGATACTGCTAAATATCATCTGTGGGGGATTGTTTCCAGGACCCCCTTCAGATACCAAAATCCCAGGATGCTCAAATCCCTGATATAAAAGACATAGTATTATCATACAACTGATGCACATCCTCCTGTATACCTTATTTATTTTTAGTTTAATTTTTAAATTTTTAACTTGTATGGGTACATAGTAGGTATATATATATTTATGGGGTACATGTGATTTTTTTTAAAGTATCAAAGGGAAAGGGTAACGTGATGTTTTGATACAGGCATACAATGTGTAATACTCCTGTATATTTTAAATCATCTCTAGATTAGTTATAATACCTAATACAATGTAAATGCTATGTAAATATATGCTGTACTGTATTGTTTAAGGAATAATGACAAGAAAAAAAGTGTGTACATATTCAGTACAGATGCAGTTTTTTTCTTTTCAAGTATTTTTGTTCCAAGATTGGTGAATCCACAGATGCAGAACCAACATATATAGAGGGCCAACTGTATTAGGTTAAATAAAACATATTATTAAAATTAGCTTCACCTCTTTCCATTTACTTTTTTCAATGTGGCAACTAGAAAATTTAAAATTATATATGTGGCCTACATTTGTGGACTACATTATATTTCTATTGTATACTGCTGTCTTAAATTATAAGTAATACAGTCTTGAATAAATATAAATGAGCAAAGTGAAAATAATGACTAACTCTTTTACAG
Seq C2 exon
TGAGTTCTACTGTAGAAATCATTATAATGCAAGCCCTTTGCTGGGTACATGATGACTTGAATCAAGTAGATGTTGGCAGCTATGTTCTAAAAGTTTGTGGTCAAGAGGAAGTGCTGCAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011405:ENST00000265970:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.003 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0079413=PI3K_rbd=PU(32.7=63.0)
A:
NA
C2:
PF0079413=PI3K_rbd=FE(38.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGAAGACCAAATTTCCATATACCA
R:
TCTGCAGCACTTCCTCTTGAC
Band lengths:
278-1988
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development