HsaEX0066762 @ hg38
Exon Skipping
Gene
ENSG00000274391 | TPTE
Description
transmembrane phosphatase with tensin homology [Source:HGNC Symbol;Acc:HGNC:12023]
Coordinates
chr21:10602058-10606140:+
Coord C1 exon
chr21:10602058-10602150
Coord A exon
chr21:10603562-10603632
Coord C2 exon
chr21:10605417-10606140
Length
71 bp
Sequences
Splice sites
3' ss Seq
AAATTTTTTTTTCTTTTTAGAAT
3' ss Score
9.87
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
GTACTTGATAACATTACAACAGACAAAATATTAATTGATGTATTCGACGGTCTACCTCTGTATGATGATGTGAAAGTGCAGTTTTTCTATTCG
Seq A exon
AATCTTCCTACATACTATGACAATTGCTCATTTTACTTCTGGTTGCACACATCTTTTATTGAAAATAACAG
Seq C2 exon
GCTTTATCTACCAAAAAATGAATTGGATAATCTACATAAACAAAAAGCACGGAGAATTTATCCATCAGATTTTGCCGTGGAGATACTTTTTGGCGAGAAAATGACTTCCAGTGATGTTGTAGCTGGATCCGATTAAGTATAGCTCCCCCTTCCCCTTCTGGGAAAGAATTATGTTCTTTCCAACCCTGCCACATGTTCATATATCCTAAATCTATCCTAAATGTTCCTTGAAGTATTTATTTATGTTTATATATGTTTATATATGTTCTTCATAAATCTATTACATATATATAGATAAAATGTCAGTGTCTTTCTTCTTTTTTGAAGGTACATACTTCACAGTTTCCATCTTGTATTTACCTAAATTTGGAACACAGTATGCAGGAACATCAGGCATCATTTTGAAGAACTTTGAAATAGAACTTTCAAAGCAAAAACTTGAGATATTCAAAAATTGTGATTCCCCAACACCCACTTACTTACATATTTTTGGTCAAGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000274391_MULTIEX1-6/6=5-C2
Average complexity
S
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF104094=PTEN_C2=FE(22.9=100)
A:
PF104094=PTEN_C2=FE(17.6=100)
C2:
PF104094=PTEN_C2=PD(24.4=69.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGACGGTCTACCTCTGTATGA
R:
TCGGATCCAGCTACAACATCAC
Band lengths:
182-253
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development