HsaEX0066766 @ hg38
Exon Skipping
Gene
ENSG00000132958 | TPTE2
Description
transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Source:HGNC Symbol;Acc:HGNC:17299]
Coordinates
chr13:19422877-19426517:-
Coord C1 exon
chr13:19426425-19426517
Coord A exon
chr13:19425707-19425833
Coord C2 exon
chr13:19422877-19423164
Length
127 bp
Sequences
Splice sites
3' ss Seq
CAGTTTTTTATTAATTCCAGAGA
3' ss Score
4.99
5' ss Seq
GATGTAAGG
5' ss Score
6.35
Exon sequences
Seq C1 exon
ATATTGCATGACATTGAAACAGACAAAATATTAATTAATGTATATGACGGTCCACCTCTGTATGATGATGTGAAAGTGCAGTTTTTCTCTTCG
Seq A exon
AGAGAAGAGGGCAGCACACAGGGCCAACTGGAAGGGGGAGCCATCCAGGAGACCTGTGCTCGACTGATGGGTGGGAGCAATAGCGAGAGAGAGGGAGGGACCTGAGAGTGGAAGCCTTTATTGGGAT
Seq C2 exon
GCTTTGTCTACCAAGAAATGAATTGGATAATCCACATAAACAAAAAGCATGGAAAATTTATCCACCAGAATTTGCTGTGGAGATACTTTTTGGCGAGAAATGACTTCCAATGATGTTGTAGCTGGATCCGACTAAGTATAGCTCCCCCTTCCCCTTCTGGGAAAGAATTATGTTCTTTCCAACCCCTGCCACATGTTCATGTGTCCTAAGTCTTCCTTGATGATGCATCTATATTTATATATGTTTATATATGTTCTTCATAAATCTATTAAATATATATAGATAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132958_MULTIEX2-18/20=17-20
Average complexity
C2
Mappability confidence:
89%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.412 C2=0.000
Domain overlap (PFAM):
C1:
PF104094=PTEN_C2=FE(22.9=100)
A:
NO
C2:
PF104094=PTEN_C2=PD(24.4=91.4)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACGGTCCACCTCTGTATGA
R:
ATGAACATGTGGCAGGGGTTG
Band lengths:
249-376
Functional annotations
There are 1 annotated functions for this event
PMID: 11716755
TPIP alpha (HsaEX0066765 and cannonical C-term) displays similar phosphoinositide 3-phosphatase activity compared with PTEN against PtdIns(3,4,5)P(3), PtdIns(3,5)P(2), PtdIns(3,4)P(2) and PtdIns(3)P. TPIP beta (HsaEX0066766, which introduces a PTC), however, lacks detectable phosphatase activity and is cytosolic. (The isoform alpha also has N-terminal transmembrane domains and appears to be localized on the endoplasmic reticulum, but due to another AS event. So it's not clear what makes the difference between alpha and beta)
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development