HsaEX1013231 @ hg38
Exon Skipping
Gene
ENSG00000135999 | EPC2
Description
enhancer of polycomb homolog 2 [Source:HGNC Symbol;Acc:HGNC:24543]
Coordinates
chr2:148690214-148743767:+
Coord C1 exon
chr2:148690214-148690373
Coord A exon
chr2:148740555-148740651
Coord C2 exon
chr2:148743622-148743767
Length
97 bp
Sequences
Splice sites
3' ss Seq
TTTTCTAAACTATTTCCCAGCTT
3' ss Score
4.72
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GAACATCATTTACAGCGAGCAATTTCAGCACAGCAAGTGTTTAGAGAAAAAAAAGAGAGTATGGTCATTCCTGTTCCTGAGGCAGAGAGCAACGTCAACTATTACAATCGCTTGTACAAAGGAGAGTTTAAACAGCCAAAACAGTTCATTCATATTCAGC
Seq A exon
CTTTTCTTGTTCCTTCCCCTGCCTCACAAGCTGGGGTGCTGGCTTTTGTAAGAATAGAATAAGAAGATAGAGCAGATAGGAGGTGGAGGAACAAGAG
Seq C2 exon
CTTTTAATCTAGACAACGAGCAACCAGATTATGATATGGATTCAGAAGATGAGACTTTATTAAATAGACTTAACAGAAAGATGGAAATTAAGCCTTTGCAATTTGAAATTATGATTGACAGACTTGAAAAAGCCAGTTCTAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135999_MULTIEX1-2/5=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.146 A=0.000 C2=0.316
Domain overlap (PFAM):
C1:
PF105134=EPL1=PU(42.3=97.1)
A:
PF105134=EPL1=PD(5.7=28.6)
C2:
PF105134=EPL1=PD(30.6=89.8)
Main Inclusion Isoform:
ENST00000258484fB14859
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
CAGCGAGCAATTTCAGCACAG
R:
TCTGGTTGCTCGTTGTCTAGA
Band lengths:
176-273
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains