HsaEX1041751 @ hg38
Exon Skipping
Gene
ENSG00000274391 | TPTE
Description
transmembrane phosphatase with tensin homology [Source:HGNC Symbol;Acc:HGNC:12023]
Coordinates
chr21:10577460-10578605:+
Coord C1 exon
chr21:10577460-10577520
Coord A exon
chr21:10578337-10578418
Coord C2 exon
chr21:10578517-10578605
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
GAAGTTGTGCGGTTTCTAGATAAGAAACACCGAAACCACTATCGAGTCTACAATCTATGCA
Seq A exon
GTGAAAGAGCTTACGATCCTAAGCACTTCCATAATAGGGTCGTTAGAATCATGATTGATGATCATAATGTCCCCACTCTACA
Seq C2 exon
TCAGATGGTGGTTTTCACCAAGGAAGTAAATGAGTGGATGGCTCAAGATCTTGAAAACATCGTAGCGATTCACTGTAAAGGAGGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000274391_CASSETTE1
Average complexity
S
Mappability confidence:
100%=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:
PF0078215=DSPc=FE(15.7=100),PF060189=CodY=FE(21.7=100)
A:
PF0078215=DSPc=FE(21.3=100),PF060189=CodY=FE(29.3=100)
C2:
PF0078215=DSPc=FE(23.6=100),PF060189=CodY=FE(32.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTTGTGCGGTTTCTAGATAAGA
R:
TGCCTCCTTTACAGTGAATCGC
Band lengths:
145-227
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains