HsaEX1041764 @ hg38
Exon Skipping
Gene
ENSG00000132958 | TPTE2
Description
transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Source:HGNC Symbol;Acc:HGNC:17299]
Coordinates
chr13:19438092-19451225:-
Coord C1 exon
chr13:19451165-19451225
Coord A exon
chr13:19450263-19450344
Coord C2 exon
chr13:19438092-19438153
Length
82 bp
Sequences
Splice sites
3' ss Seq
ATACATATTATTTATTTTAGGTG
3' ss Score
7.92
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GAAGTTGTGCGGTTTCTAGATAAGAAACATCGAAACCACTATCGAGTCTACAATCTATGCA
Seq A exon
GTGAAAGAGCTTATGATCCTAAGCACTTCCATAATAGGGTCAGTAGAATCATGATTGATGATCATAATGTCCCCACTCTACA
Seq C2 exon
GAAGAACCGGGACTATGGTTTGTGCCCTCCTTATTGCCTCCGAAATATTTTTAACTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132958_MULTIEX2-11/20=10-13
Average complexity
C1
Mappability confidence:
99%=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:
PF060189=CodY=FE(21.1=100),PF0078215=DSPc=PU(15.3=85.7)
A:
PF0078215=DSPc=FE(22.1=100),PF060189=CodY=FE(28.4=100)
C2:
PF0078215=DSPc=FE(16.4=100),PF060189=CodY=PD(16.8=76.2)

Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTTGTGCGGTTTCTAGATAAGA
R:
CGGCAGTTAAAAATATTTCGGAGGC
Band lengths:
119-201
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains