Special

HsaINT0124970 @ hg38

Intron Retention

Gene
ENSG00000133056 | PIK3C2B
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Source:HGNC Symbol;Acc:HGNC:8972]
Coordinates
chr1:204422628-204425741:-
Coord C1 exon
chr1:204425613-204425741
Coord A exon
chr1:204425041-204425612
Coord C2 exon
chr1:204422628-204425040
Length
572 bp
Sequences
Splice sites
5' ss Seq
ATGGTGGGT
5' ss Score
6.18
3' ss Seq
ACCCATCTCTATGTTTGCAGTTG
3' ss Score
7.8
Exon sequences
Seq C1 exon
CAACTGCTCCAGGATGGAAATGACCCTGACCCCTATGTGAAAATTTACCTCCTTCCTGACCCTCAGAAAACCACTAAGAGGAAAACCAAAGTGGCCCGGAAAACCTGCAATCCTACCTACAATGAGATG
Seq A exon
GTGGGTGGGGAAAATGGTGGGGTAGGGCAGGGGTTGGCAACCTGCGCCTGTTCTCCTAGATAAAGTCGTATTGAAGAACGTATTAAGATGTTGTATTAAGAACATGGCTGTACTTGCTGATTTAGGTGTTACCTGTAGCTGCTTTCATGTTGCAATGGCAGGATCGAGTAGTTGTAACATAGACCATATGGCTTATCAAGCCTAAAAATATTTACTATCTGTCCCTTTACATAAAAAGTTTGCCAGCCCTTTTGGGCTGGGATTTCATGGCTGGGGTCTGGCCCTATCCTGTGGGAAGGAGAAGCCTGCTGGTCCTGTGCTGAAAATGAGCAGTGGCCCCAATACAAAGCCCTCACCTGCTTGAACTCTGAGCAAAGAACAGAGTTCATTAATGCTTCCCTTGGAGTCTGTGTACCTTGTGTGCCTTCTGTATTACCTGGGACTCTGCAGGGTGAGTGCTAGCCTCAGCTGGATCAGCCCCCAACAGACTTTACCATCTCCCTCTCGGGTTCCCTCTGGATTCTTCTTGTTCCTTCTCTCACCACTTCCCTCACCCATCTCTATGTTTGCAG
Seq C2 exon
TTGGTATATGATGGGATCCCCAAGGGTGACCTGCAGCAGCGGGAGCTCCAGCTGAGCGTGCTGAGTGAGCAGGGATTCTGGGAGAACGTCCTCCTCGGTGAGGTGAACATCCGCCTGCGAGAGCTGGACCTGGCTCAGGAGAAGACCGGCTGGTTCGCCCTGGGATCTCGAAGTCATGGCACCTTGTGAGCCCAGCAGAGCCACCACCCAGCATCCCAGGCTGGTGGCAGGAGCTGGGGGAGAGGACTCTCCCCTGTGAGACTCCTCCTTGTGAAGGGCCAGGGCCCTGGGCAGGCCTCCAGCTCGGTCCAGGTGATTCTGGCCTCTGTGGTAGGAGGCAGGGAGAGTAAGACATGCTCTGCTGTCTCTTCCTCTGGAGACTGAACTTGGGTTGGTTGTGATGAGCAGCCCCTTGGAGGCTGTGAGGTTGCAGCAAAGTTTTAAGTTTACCTTGTGTCAAGGGAGCAATGCTTGGTTTGGGGAGTGTGTGGGGTGGGCTGTATGAAGTAGCATTTTGGGGGTGGGTGGGTGGATATCTTAATTTTTATTTTTAAAAAATGAAATAGTGATGTTGTCCTAACTGGGACAGGAAGCCTTGCGAGAAGGGACGTACCTATGCCCCAGAAGGCAAGAGAGGAAGACTATTTGGACTTTTTGTATGATTAAGGTTCTTATTGGACTTTTCCCTAGGTTTTTTTTTTTTGTTATTGTTGTTGTTGTTTCGTTTTCTAGCTATAGGAACTATCTGGGGAGGGGCCCAGTGGGTCCTCGGCCAGAGCCCTCTCTAAGGACAGGTTGGGGAGGGTTGGGGAGGGCTGCCTGTGCTGGACTGAGGCTTGTGCCACTGGGCCTTTCTGATTTTGCCTCCAAAGGAGAGCGCTGTGATACCTACATGTGTAAGGAAGGGCCTTCCGTATTGGGGTTCTGCCAAGGACCCGTATTCAGGGACCCATGCTCTTTTGGGGGGACTTTTCCTCTTGTCTTCCCTACTTTATTAGGACTTGCCCTGAATACCATTTTCTACCCCTTGCCCCTCCATTCTCCTGGCCCTTCTGGGGGTCAGCTGGTCTCTATGAATATGCTGGGGGTGCTTCCCCATAGGTCTCTCCCTTCATTTGTCTCTGGTGGGACAAAATACTGACTCAGTCCTTAGATGTAGTTTCACCCAAGAGCATCTTGGCCCTGGGAAGAGGTCCCTAGGCTGCAGATGCTACTGACTGCTTGCTAGGTAGCCTCTGGAAAGCATTCCCCATCCATCACTCCCCACTTCTTTCTGCTGTGCTGCTTCCCTCCCAAACTCCATTTCTGTCACCCTTTTTATAAGACTTTTCCTCATTCTGTGGGGCCATAAACCTATTTAGTCTGGAGCCAAAGGGATGCCCTATCTGAAGGAAAGGGGCATGGGGTGGGGGATTCCATCAAAACTGTTGTTTTTTGCCCCATGATTTTTCTTTGGTCAGTAGGAGGCTGGATTGGAGTGGTGATTATTCCCCTGGAGCTAAGCTCAGGAGCCCGAAGGGAGAGACTGAGACTGACTCCCTTATCTCTTCATATTCTTTATTCCCTACCAGATGGATTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGTAGTGGCATGATCTCGACTCACTGCAAAATCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCCGCCCCAGATGGATTTTACATTTGCTCTTTTGTGTTTCGCTCCAAAGGGTTGTCTTCCTCGCCAAAAGGAGGGAGGGACTTTGAATTTGATATGAATCTTTAAAACCAGAATTGGCTGGATATTTCCCATGATTGGGAAAAGAGTGAAATGAGGACATTCTGTAAACTGTCCCTCCCTAATTCCAAGGATCAGAAACTCCCCGTTTTGCTGACTCATTCCATAACTGGAGAAAGAAGCTCCATTGACCGAAGCCACAGGGCAGCATGGAAGTTTAAATTTTCTCTAAAATTAAAATGCCAAGGATAAAGCTGGCTGCTTCCAGGAGGGGGAAGAGGAGTGGGGAGTGGGCGGTGAAACTTTTCCAGATGAACGGACCATAAATGTGTTACTGGCTTTGTGCCTGTAGCTCATTTTATTATGACCTATATGCTCCTGATTTAAAGAGATCTGTGTACTGTTTACTTCCCACTTCCCAGAATCCCTTGTATCTCCTTTCTCGGGAATTGTATTTTCTAATAAATGACATTTGAGAAAAAAATGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133056:ENST00000367187:33
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.163 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0016825=C2=FE(46.7=100)
A:
NA
C2:
PF0016825=C2=PD(38.9=55.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACCTCCTTCCTGACCCTCAG
R:
GTCTCACAGGGGAGAGTCCTC
Band lengths:
346-918
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