HsaEX0066765 @ hg19
Exon Skipping
Gene
ENSG00000132958 | TPTE2
Description
transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Source:HGNC Symbol;Acc:17299]
Coordinates
chr13:19999087-20004687:-
Coord C1 exon
chr13:20004608-20004687
Coord A exon
chr13:20000565-20000657
Coord C2 exon
chr13:19999087-19999157
Length
93 bp
Sequences
Splice sites
3' ss Seq
TTCCATGTGTTCATTCATAGATA
3' ss Score
8.26
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
Exon sequences
Seq C1 exon
GTGATGTATGTGATCTAAAAGTCCAAGTAGTAATGGAGAAAAAGGTTGTCTTTTCCAGTACTTCATTAGGAAATTGTTCG
Seq A exon
ATATTGCATGACATTGAAACAGACAAAATATTAATTAATGTATATGACGGTCCACCTCTGTATGATGATGTGAAAGTGCAGTTTTTCTCTTCG
Seq C2 exon
AATCTTCCTAAATACTATGACAATTGTCCATTTTTCTTCTGGTTCAACACGTCTTTTATTCAAAATAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132958-'19-25,'19-22,20-25
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF104094=PTEN_C2=FE(19.8=100)
A:
PF104094=PTEN_C2=FE(22.9=100)
C2:
PF104094=PTEN_C2=FE(17.6=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGATGTATGTGATCTAAAAGTCCAA
R:
TTGAATAAAAGACGTGTTGAACCAGA
Band lengths:
143-236
Functional annotations
There are 1 annotated functions for this event
PMID: 11716755
This event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)