HsaEX0022710 @ hg38
Exon Skipping
Gene
ENSG00000120616 | EPC1
Description
enhancer of polycomb homolog 1 [Source:HGNC Symbol;Acc:HGNC:19876]
Coordinates
chr10:32287098-32292644:-
Coord C1 exon
chr10:32292496-32292644
Coord A exon
chr10:32291163-32291322
Coord C2 exon
chr10:32287098-32287274
Length
160 bp
Sequences
Splice sites
3' ss Seq
TTTCATTTGTATAATTTTAGGTA
3' ss Score
9.07
5' ss Seq
AAGGTGATT
5' ss Score
5.88
Exon sequences
Seq C1 exon
AATCGCAAAAATGATGAAGCCTCTTACGAAAAAATGCTTAAGCTGCGACGAGATCTAAGTCGAGCTGTTACTATTCTAGAGATGATAAAAAGAAGAGAAAAAAGTAAAAGAGAGCTATTGCACTTAACACTGGAAATTATGGAAAAGAG
Seq A exon
GTATAATTTGGGCGACTACAATGGAGAGATCATGTCTGAGGTTATGGCACAGAGACAGCCAATGAAACCTACTTATGCCATCCCCATCATCCCTATTACTAATAGCAGTCAATTTAAACACCAGGAAGCAATGGATGTGAAGGAGTTCAAAGTTAATAAG
Seq C2 exon
CAAGATAAAGCCGATCTTATCCGACCGAAACGGAAATATGAAAAGAAGCCCAAAGTCTTACCATCGTCTGCCGCTGCTACTCCCCAACAGACGAGTCCTGCTGCACTGCCAGTCTTCAATGCTAAAGATCTGAATCAGTATGACTTTCCCAGCTCAGACGAAGAACCTCTCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120616-'25-21,'25-20,27-21
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.192 A=0.389 C2=0.695
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000263062fB14856
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATGCTTAAGCTGCGACGAGA
R:
TAGCATTGAAGACTGGCAGTGC
Band lengths:
242-402
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