Special

HsaINT0124948 @ hg38

Intron Retention

Gene
ENSG00000133056 | PIK3C2B
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Source:HGNC Symbol;Acc:HGNC:8972]
Coordinates
chr1:204449850-204454791:-
Coord C1 exon
chr1:204454669-204454791
Coord A exon
chr1:204450018-204454668
Coord C2 exon
chr1:204449850-204450017
Length
4651 bp
Sequences
Splice sites
5' ss Seq
GCAGTAAGC
5' ss Score
5.06
3' ss Seq
TGACTTCCTGTCCTCCATAGGAT
3' ss Score
12.05
Exon sequences
Seq C1 exon
CTATGAAGATTTCTACCTCTCCTGCTCCCTCAGCCATGGCGGCAAGGAGCTGTGCAGCCCCCTGCAGACCCGAAGAGCTCACTTCTCCAAGTACCTCTTCCACCTCATCGTCTGGGACCAGCA
Seq A exon
GTAAGCCCTTCCCCCAGGCTTCAGTGCCCAGGCCACTGTAGACCTGCTCAGCCTCTGAAATATCCCTGGGGCCAGATAACTAGTCCAGGACTAATGATAAAACCAGGCTCCTTGTTAACCCTAACTGGACAAGTCATTCAACCTCTTGAGTCTCCACTTCCCTGACTCTTTTTTTTTTTTTTTTTTTGAGAGGCAGCCTCGCTTTGTTGCCCAAGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCCATGTGTTAGCTAGGATAGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCCACTTCCCTGACTCTTAAAGGAGCCAAGTATAATTACCACTTCTCAAGTTGTCATGAGGATCCAATGAGAAGTATCTATAAAGGCTCTTTGTAAACCATAAAAAACATATAAATTTTAGTTGTTGACCAGGCGCGGTGGCTTACGCTTGTAATCCCAGCGCTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGCAGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAAAAATACAAAATAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCTGTCTCAAAAAAAAAAAAATTAAATGTTAGTTGTTAATTTTAATAATACTTTATTTTTTGATCTTGTCTCCCTTAAAGAGTTTAACTAGTTGGAGGGCTTCTCATCCTCTCCCTTCTTCCCTCAGTTCCTGTAGACTATGGAGAGGAGACTGTGCTTTTCCCTTTATATATAGAGAAGGGAGGGTTGTCTAGAGAAAGAATATTGAGCTTGGATTCCCAGGAGTGAGCCTCTATTTCTAGCTCTGTCTCGAATACTACTTTCTCTCTATTCTTTCTGTGCCTCATTTTTTCAAACTGAGAAATGGGGACATTGGTTTCACTCAGAGGCAGTTATGGCGTCGAGATGAGATAGGTGGGTTATAAATATAAATATGAAACCAAAAGCACAAGGTAATATTAATCACCACATGTAAACAATAATTTGGTGTCGGGAAGGTAGGCGTCAGCCAAGCAAAGCAGGAAGGAAACGGAGGAGAGGGTGCCTTGCTTGAATGGGGGCACCGCAGGGGTTTTCCTGCCCTGTGCTTCATCTGTGCTATGCTCTACCTTCCTTCCAGTCAGTCAGAAAATCCCCTGTTTGCTGCCCCCGGCTTTGCTTCCCCACACTGACTATATTAGAGTCCTCATTTGCAGAGCAGCACTGCAAGCTAAGTATTTGTAGCACAGATTAAAGAGACTGAGGAGGGTCCTGGGGAGGCCGAGGATGCAAAATAGGTAGATGAAGAATCTGGAGATGCTGGAAGAGGTGGGTCCTTTTACAGATGGACAACTGGGAAAATGGACCCTTTCTCATGCCCTTCACACTTAGGTAATTCTTAGAGCAATAAAGGTGTATATGGCTGGGCACGATGGCTCACACCTGTAGTCTCACCGTACTTTGGGAGGACAAGGCGGGATAATCACTTGAGATCAGGAATTTGAGACCAGCCTGGGCAACACAAAGAGGCCTTATCTCTACTAAAAAATTATTTTAAATGAGCTGAGTGTGGTGGCGTGCATCTGTAGTCCTAGCTACTTAAGAGGCTGAGGTGGGAGAGTCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGATCACACCACTGCACTATAGCCTGGGCAACAGAGTGAGACCCTATCTTAAAAAAAAAAAAAAAAAAAAAGGACATGGGGTGTGCATTAAAGGTCCTCAAGCAAACAACTGCCAGGACAGGAGAAACTCCTTGCAGGCAGAGGATAGCTGCATTAAATGGCCCTTGAGTTCCACCATTCCCTTGGGATTTTTTGGTCACAATTACTGCTGCTGTCAAGAGAAGGGGTGCCAGCCTGGGCAACAAGGGAGACCCAATCTCTACAAAAAATACAAAAAATTAGCCAAGTGTGGTGGCATACACCTGTGGTTCCAGCTACTTAGGAGGCTGAGGTGGGAGAATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTATCCAGCCTCGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGGTGCTGCACAGTGTTCTGGCCCAGGAGGAACTTTAAAAAATTGGCCTTAAACCCTTTACTCATACAGTATCAGAGGTAGAGAGGCAGCCCAGCCTGCCCCATGAGTTTCATTTTGTTCCCTGAGATCCCCACCTTGAATTTTAAAGGGGCAGTCCCCTGCCTAGCGCCTTGTGAAGGGCACTATCTTGCACTGTCCATCCAGAAGCCCCGAATGAGACTTCTTGGCCCTTCATGGTCAAGACCAGGACATTTGGGGGAAGGCGTGCCAGCGTTCAGAGGACAGTCTTTGGGCCAGTCATTCTCTCCTTCCTACTGTAGTTGCAGCCTGGGGCAGGTCTTTCAACCTAGAATGGTAGCGATAATAGGGCCTACCCTACAGGATTGTTTGAGGAGCAGTTAGGACACTGTAAATAAAGTACTTGGCACAGGCTTCTTAGCTGGGGAGCCCTCTTGGTTTTGGTTTCTCTGTTCCAAGTGACTGACAGACTGGCTGATACATGGGGATACGTGCGCATGAAAATACTATCTGTATAAGCCAGTGCCAGTGCAGTAACCACAGCATCACATAGCAAAAAGTACACAGTCTGCACACACATCATGCAAGTGAAGCTATGTTCCCCTTTTCCCTGATGAGAAACTGAGGCACAGAGATGGGAATTAAGTTGCCCAGGATTGTGAGTGGCAGAACCGGGACTGGAGCCAACCAGCACATTCCAGGAATCCTTCCTGGAGGAGGCAGCCTGTGTGATATGAGGTTGTTGAATGGGCTGCAGGAAGGAGAGGGGCTTCTCAGGGAGGAAGGTAAGGGCTGCAGCCAACATAATGGTTATCCTGACCAGCCCTGGGTGAAGATCTGTGGGAGAGGTTGTGGAATACCAGATATACCCAAGGACTGAAGGGAAGAGGGCCTTGGCTGGCTCTGGTTTCACTCATAAAGTCTTCTCACTCCCCTTTTCCTTAAGACACGAAGCTGGAAGCTTCTTCCTTGGGTGAAAAGAAAGGGCTCAGGACCAGCTCCCTCTCCCCTTTGCTATGGGGTCAGCTGATTCTCTGCCCCACTGTAGCGGTCCAGGGATCAGCTAACTCTCAAAATAGGCTCAGCAGCCGTGCTTTGTCACCTCCAGCCAAGCCCTGGCCTGGCATGTCTGCTGGCTGCTGGAGGGGCCCTAATTATAGCTGTGGGCCCCCAGGGTAGAGGCAGCTGGGACAGAGCAGGGCTCTGCCAGTCTGTGGTGGGCTGGAGGGAGTGCCTCACTTAGGTGGAGATTCCTCTGGAGGACAGCGGTGGAGGCAGGCTGCTTTATCATGAAACTGCCAACCTTGGGGGTGGCCGCCCTGCCTCTGCGCCCTCTGGCATAGAAGTTGCTGGGCCCTGGGCTGGCCAGGAGGGTGTGACAGTATGGACTTTGGCCCAGGGACAGCTTCCCCGAAAGGTAACGTGGGTCCTCCCTGCCTTTCCACAGCTCCCCTCCCCTGTGTACTTCACCCCACCCAGCAGTTCCTTATCCTGAGCTTAGAGGGAGTGGCTAGGTGTGATTCAGACTGAGGGACCTGGAGAGAACTTATGGGCTTGAATAGTGGTGGGGCTTATGTGTCTCAGTTCTCTTGGCCCTGCCATTGGCTTTCTCACCACTGGGGTACTTGGAGAAACCCCTCCTCTTTGTCCCTTTGGCTTTGAAGCTGTTTGGGGGTGGGGGTGAGAAAAACCCAGTGTGTGTCCCTGGGGCTAGGTGAAGGGGACTCCTATGAGGACAAGTGAGAGGGCTGTGGGGGAGGGTGAACCGAGGGCAGAGAACATGGTGCTTCTTCCTGGTGGCTCTCAGCAGCAAGAAGTGGGGGAGGGATGGAGACTGTCAAATGGAAAAGGAGGACAAAAGGAGTAGCTTTGCGGACCCTCTGCGGAAATCCTAAAACAAGGAAAGGAGCAAGGCTGACAACATGGGACGTGTCATCACCTGAACTCCGAGGTGGCTCTGCTAAGCAAGTTCTGTCCAGGCACCACGGGTAGCTTCAAAATCGGGATGTTCGCCTCACTCTACTGCAAAGCTCCAAGGACACCACATTGTGCTTCTGGGAACATCCAGTGGGGGTTTTGCCTAGTTTGGGACCTCTCCTGGTTCTGCAGGAGGAGGGCTTCCTCAGGGAGTATGTCTGAACCCTGAGAGGGAGGCTGTATCCTCAGCCTCAGCCTCAGCCTGACTTCCTGGGCCACCTGTTGCTTGAAGCCACAGGAGTGGCCCCTCCTAATTTGACTTCCTGTCCTCCATAG
Seq C2 exon
GATCTGCTTCCCAGTGCAGGTGAACCGGCTGCCTCGGGAGACACTGCTGTGTGCCACTCTCTATGCTCTGCCCATCCCCCCACCGGGGAGCTCCTCAGAGGCCAATAAGCAGCGGCGGGTGCCTGAAGCCCTGGGCTGGGTCACTACCCCACTCTTCAACTTCAGGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133056:ENST00000367187:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.091
Domain overlap (PFAM):

C1:
PF0079219=PI3K_C2=PU(29.1=97.6)
A:
NA
C2:
PF0079219=PI3K_C2=FE(39.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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