Special

HsaEX0066764 @ hg19

Exon Skipping

Gene
Description
transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Source:HGNC Symbol;Acc:17299]
Coordinates
chr13:20000565-20006718:-
Coord C1 exon
chr13:20006613-20006718
Coord A exon
chr13:20004608-20004687
Coord C2 exon
chr13:20000565-20000657
Length
80 bp
Sequences
Splice sites
3' ss Seq
ATTTCATTTTGTTGGAACAGGTG
3' ss Score
7.81
5' ss Seq
TCGGTAAGA
5' ss Score
10.53
Exon sequences
Seq C1 exon
AATAGATATGTTGGATATTTTGCACAAGTGAAACATCTCTACAACTGGAATCTCCCTCCAAGACGGATACTCTTTATAAAAAGATTCATTATTTATTCGATTCGTG
Seq A exon
GTGATGTATGTGATCTAAAAGTCCAAGTAGTAATGGAGAAAAAGGTTGTCTTTTCCAGTACTTCATTAGGAAATTGTTCG
Seq C2 exon
ATATTGCATGACATTGAAACAGACAAAATATTAATTAATGTATATGACGGTCCACCTCTGTATGATGATGTGAAAGTGCAGTTTTTCTCTTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132958-'18-22,'18-21,19-22
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF104094=PTEN_C2=PU(13.0=47.2)
A:
PF104094=PTEN_C2=FE(19.8=100)
C2:
PF104094=PTEN_C2=FE(22.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTTGGATATTTTGCACAAGTGA
R:
TCATCATACAGAGGTGGACCGT
Band lengths:
167-247
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