Special

HsaEX0066763 @ hg19

Exon Skipping

Gene
Description
transmembrane phosphatase with tensin homology [Source:HGNC Symbol;Acc:12023]
Coordinates
chr21:10914363-10920164:-
Coord C1 exon
chr21:10920084-10920164
Coord A exon
chr21:10916370-10916475
Coord C2 exon
chr21:10914363-10914442
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
ENSG00000166157_MULTIEX1-7/10=6-8
Average complexity
S
Mappability confidence:
100%=86=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.130 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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
HIGH PSI
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development