HsaEX1041765 @ hg38
Exon Skipping
Gene
ENSG00000132958 | TPTE2
Description
transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Source:HGNC Symbol;Acc:HGNC:17299]
Coordinates
chr13:19438092-19450344:-
Coord C1 exon
chr13:19450263-19450344
Coord A exon
chr13:19450076-19450164
Coord C2 exon
chr13:19438092-19438153
Length
89 bp
Sequences
Splice sites
3' ss Seq
AATCTTAAACTTGAAATCAGTGA
3' ss Score
0.34
5' ss Seq
AAGGTAATA
5' ss Score
8.49
Exon sequences
Seq C1 exon
GTGAAAGAGCTTATGATCCTAAGCACTTCCATAATAGGGTCAGTAGAATCATGATTGATGATCATAATGTCCCCACTCTACA
Seq A exon
TGAGATGGTGGTTTTCACCAAGGAAGTAAATGAGTGGATGGCTCAAGATCTTGAAAACATCGTAGCGATTCACTGTAAAGGAGGCAAAG
Seq C2 exon
GAAGAACCGGGACTATGGTTTGTGCCCTCCTTATTGCCTCCGAAATATTTTTAACTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132958_MULTIEX2-12/20=11-13
Average complexity
S
Mappability confidence:
99%=100=89%
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:
PF0078215=DSPc=FE(22.1=100),PF060189=CodY=FE(28.4=100)
A:
PF0078215=DSPc=FE(24.6=100),PF060189=CodY=FE(31.6=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:
GTGAAAGAGCTTATGATCCTAAGCAC
R:
TCGGCAGTTAAAAATATTTCGGAGG
Band lengths:
143-232
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains