HsaEX1041752 @ hg38
Exon Skipping
Gene
ENSG00000274391 | TPTE
Description
transmembrane phosphatase with tensin homology [Source:HGNC Symbol;Acc:HGNC:12023]
Coordinates
chr21:10592293-10598094:+
Coord C1 exon
chr21:10592293-10592373
Coord A exon
chr21:10595982-10596087
Coord C2 exon
chr21:10598015-10598094
Length
106 bp
Sequences
Splice sites
3' ss Seq
AGATTTCTGTTGCTTTTCAGAAG
3' ss Score
7.57
5' ss Seq
CTCGTAAGT
5' ss Score
9.63
Exon sequences
Seq C1 exon
GAAAGCCTGTATTATTTTGGAGAAAGGCGAACAGATAAAACCCACAGCGAAAAATTTCAGGGAGTAAAAACTCCTTCTCAG
Seq A exon
AAGAGATATGTTGCATATTTTGCACAAGTGAAACATCTCTACAACTGGAATCTCCCTCCAAGACGGATACTCTTTATAAAACACTTCATTATTTATTCGATTCCTC
Seq C2 exon
GTTATGTACGTGATCTAAAAATCCAAATAGAAATGGAGAAAAAGGTTGTCTTTTCCACTATTTCATTAGGAAAATGTTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000274391_MULTIEX1-3/6=2-4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.111 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0078215=DSPc=PD(16.5=77.8)
A:
PF104094=PTEN_C2=PU(13.0=47.2)
C2:
PF104094=PTEN_C2=FE(19.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGTATTATTTTGGAGAAAGGCG
R:
CGAACATTTTCCTAATGAAATAGTGG
Band lengths:
157-263
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains