HsaEX0022712 @ hg38
Exon Skipping
Gene
ENSG00000120616 | EPC1
Description
enhancer of polycomb homolog 1 [Source:HGNC Symbol;Acc:HGNC:19876]
Coordinates
chr10:32273163-32285050:-
Coord C1 exon
chr10:32284698-32285050
Coord A exon
chr10:32273922-32274038
Coord C2 exon
chr10:32273163-32273281
Length
117 bp
Sequences
Splice sites
3' ss Seq
TTTTTGTTTGTTTTTTTTAGAAC
3' ss Score
10.98
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTCTTACTGGACAGAGCTCATTCAGACTATGACAGTGTGTTTCACCATCTGGATTTGGAAATGCTTTCCTCACCACAACATTCTCCAGTCAATCAGTTTGCCAATACCTCAGAAACAAATACCTCGGACAAATCTTTCTCTAAAGACCTCAGTCAGATACTAGTCAATATCAAATCATGTAGATGGCGGCATTTTAGGCCTCGGACACCATCCCTACATGACAGTGACAATGATGAACTCTCCTGTAGAAAATTATATAGGAGTATAAACCGAACAGGAACAGCACAACCTGGGACCCAGACATGCAGTACCTCTACGCAAAGTAAAAGTAGCAGTGGTTCAGCACACTTTG
Seq A exon
AACTGAGCTCTCCATAGACAAACATAAGTAGCATAACACAGTGTCTTTCCTCAGACATCATTCTGTACAGTAAATCAACATAAACAACTCCGTTCTTATTGACTGGATTTTTTCCAG
Seq C2 exon
CATTTACAGCCGAACAATACCAGCAACATCAACAGCAACTGGCACTCATGCAGAAACAGCAGCTTGCACAAATTCAGCAACAGCAAGCAAATAGTAATTCCTCCACCAACACATCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120616_MULTIEX1-1/3=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=0.426 A=1.000 C2=0.592
Domain overlap (PFAM):
C1:
PF067527=E_Pc_C=PU(0.1=0.0)
A:
NA
C2:
PF067527=E_Pc_C=PU(15.3=97.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATTTTAGGCCTCGGACACC
R:
TGCTGAATTTGTGCAAGCTGC
Band lengths:
243-360
Functional annotations
There are 2 annotated functions for this event
PMID: 31911676
CRISPR targeting of the poised exons showed a modest fitness advantage in cell culture. Tumors derived from engraftment of polyclonal EPC1 poison exon targeted PC9-Cas9 cells were significantly larger and exhibited increased Ki-67 staining relative to control tumors.
PMID: 31911676
[CRISPR screen]. Conserved poison exon with pro-oncogenic impact when depleted: HeLa No Change at 14 days (FC=1.187, FDR=0.002), PC9 No Change at 14 days (FC=1.144, FDR=0.102), Late Xenograft Enriched (FC=2.344, FDR=0.000).
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