Special

HsaEX7006988 @ hg38

Exon Skipping

Gene
ENSG00000139144 | PIK3C2G
Description
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma [Source:HGNC Symbol;Acc:HGNC:8973]
Coordinates
chr12:18423945-18491558:+
Coord C1 exon
chr12:18423945-18424039
Coord A exon
chr12:18488449-18488629
Coord C2 exon
chr12:18491451-18491558
Length
181 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTCTCTTTCCTTCAGGCT
3' ss Score
12.52
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
GCTGTCAAGTTTGAATGGAACCTTGAGAGTCCTTTAGTGCAACTTCTACTCCACCGCTCCTTGCAGAGCATCCAGGTTGCCCATCGTCTTTACTG
Seq A exon
GCTGCTAAAAAATGCAGAAAATGAAGCTTATTTTAAAAGCTGGTATCAGAAGCTACTAGCTGCTCTCCAATTCTGTGCAGGTAAAGCCTTGAATGATGAGTTTTCCAAGGAGCAGAAACTTATCAAAATTCTGGGAGATATTGGGGAAAGAGTCAAGTCTGCCAGTGACCATCAAAGACAG
Seq C2 exon
GAGGTACTGAAGAAAGAAATTGGCAGACTAGAAGAGTTCTTTCAAGATGTAAATACTTGTCATCTTCCTCTGAACCCTGCCCTATGTATAAAAGGGATTGATCACGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139144-'33-37,'33-36,35-37=AN
Average complexity
A_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:
PF0061315=PI3Ka=FE(16.9=100)
A:
PF0061315=PI3Ka=PD(18.6=55.7)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000538779fB22556


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGTCAAGTTTGAATGGAACCT
R:
AATCCCTTTTATACATAGGGCAGGG
Band lengths:
194-375
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains