Special

HsaEX0066781 @ hg19

Exon Skipping

Gene
Description
transformer 2 beta homolog (Drosophila) [Source:HGNC Symbol;Acc:10781]
Coordinates
chr3:185644389-185655924:-
Coord C1 exon
chr3:185655613-185655924
Coord A exon
chr3:185649365-185649640
Coord C2 exon
chr3:185644389-185644522
Length
276 bp
Sequences
Splice sites
3' ss Seq
CCTGTTCTTTTTCTATTAAGGTT
3' ss Score
10.29
5' ss Seq
TAAGTAATT
5' ss Score
1.76
Exon sequences
Seq C1 exon
GTGCGGGACGCGCTGCAGCTGGAGAGGAAAGGCAGAGCGAGGAGGGGCGAGGCCAAGAAAGCGCGCGTTTCTGGGAGGGGAGGAGCCTGGCTAAGGAGCGCCGCGTCACATCCGGTAGAGTTAGAGCCCGTGCGGAGGCGGTGCGGAGCATTTCGGCTCTGAGCGGCTGGGCGACCGGCGCGTCGTGCGGGGCTGCGGCGGAGCCTCCTTAAGGAAGGTGCAAGAGGTTGGCAGCTTCGATTGAAGCACATCGACCGGCGACAGCAGCCAGGAGTCATGAGCGACAGCGGCGAGCAGAACTACGGCGAGCGG
Seq A exon
GTTAATGTTGAAGAAGGAAAATGCGGAAGTCGTCATTTGACAAGTTTTATAAATGAGTATTTGAAGCTCAGGAATAAGTGAAGCTGAAATTTGAAAAAATAAAAGAAAGAATGCATGCTAATTATCAGACCAGAAGTCCCACTTGTAGAATATTGAGCAATTTGTGTGAAGTGGGGAAGATGAAAGAAGTCAGAATTTGAAACGGAAGAATGAAGAAAAGAAATAAAAATGAAGTTAAGATAAGAAGTAATCTGGAATCAGAAAGCACTACGCTAA
Seq C2 exon
GAATCCCGTTCTGCTTCCAGAAGTGGAAGTGCTCACGGATCGGGGAAATCTGCAAGGCATACCCCTGCAAGGTCTCGCTCCAAGGAAGATTCCAGGCGTTCCAGATCAAAGTCCAGGTCCCGATCTGAATCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136527_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.885 A=0.192 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCGGTAGAGTTAGAGCCCG
R:
TCTTCCTTGGAGCGAGACCTT
Band lengths:
292-568
Functional annotations
There are 4 annotated functions for this event
PMID: 14709600
This event
TRA2-BETA1 (canonical isoform) binds to four enhancers present in exon 2 HsaEX0066781), which activates its inclusion. Inclusion of exon 2 generates mRNAs that are not translated into proteins. HTRA2-BETA1 interacting proteins promote exon 2 skipping by sequestering it, which upregulates the HTRA2-BETA1 protein synthesis. It is proposed that the regulation of the tra2-beta pre-mRNA alternative splicing provides a robust and sensitive molecular sensor that measures the ratio between HTRA2-BETA1 and its interacting proteins.
PMID: 31911676
This event
[CRISPR screen]. Conserved poison exon with mixed impact when depleted: HeLa Enriched at 14 days (FC=1.571, FDR=0.000), PC9 No Change at 14 days (FC=0.954, FDR=0.648), Late Xenograft Depleted (FC=0.512, FDR=0.000).
PMID: 33176162
This event
Poison exons in serine-arginine-rich (SR) proteins, a family of 14 essential SFs, are differentially spliced during induced pluripotent stem cell (iPSC) differentiation and in tumors versus normal tissues. The study uncovers an extensive cross-regulatory network of SR proteins controlling their expression via alternative splicing coupled to nonsense-mediated decay.
PMID: 33176162
This event
Splice-switching antisense oligonucleotides that reverse the increased skipping of TRA2B-Poison exon detected in breast tumors, alters breast cancer cell viability, proliferation, and migration.


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development