Special

HsaEX0022717 @ hg38

Exon Skipping

Gene
Description
enhancer of polycomb homolog 2 [Source:HGNC Symbol;Acc:HGNC:24543]
Coordinates
chr2:148781644-148787568:+
Coord C1 exon
chr2:148781644-148781780
Coord A exon
chr2:148783597-148783756
Coord C2 exon
chr2:148786305-148787568
Length
160 bp
Sequences
Splice sites
3' ss Seq
TAACTTTGTTCATTTTATAGGGC
3' ss Score
8.51
5' ss Seq
CAGGTACAG
5' ss Score
8.68
Exon sequences
Seq C1 exon
TAACAGGGGGTATCACAGAAGAGCAGTTTCAGACACATCAGCAGCAGTTAGTTCAGATGCAAAGGCAGCAACTTGCCCAGCTTCAGCAGAAACAGCAATCTCAGCATTCCTCGCAACAGACACATCCAAAAGCACAG
Seq A exon
GGCTCAAGCACCTCTGACTGTATGTCTAAAACACTTGACTCAGCCAGCGCCCACTTTGCTGCATCTGCAGTGGTCAGTGCACCTGTTCCAAGTCGCAGTGAGGTAGCCAAGGAACAGAACACTGGCCACAACAACATAAACGGTGTTGTCCAGCCTTCAG
Seq C2 exon
AGAGAACCACGAACCAGAAAGATTGGGCTTAAATGGAATAGCAGAGACAACAGTAGCTATGGAAGTGACATAACCTAAAACACGTGGCTCTGACCTGTGCTGATGGTGTGCAGTCATTCATATTCCAGCTGAATGCAAAAGGCAACACTCTGTGGATCACAGAGTGTAACAATGGACCTAAATGGACTATAGTATATTGGATGTTAAATCCATATATGATGTATATTTTGTAAAATTGGGAAAATCACTACCTTGTAAAATAGTTTATTTGTATCATCAATATTATTTCTGTTACTTGAATAGTAGATATTCATCATCATGCTTTTGCACTTGAATTTGCAACTGAATGGATTTTAAAAAATAATTCTTTAATGGGATCATGAGCATGAAATGGGATCCTGCATCACTTGTTTTAACTATTTATTTTGCCATGTTTACATTTTGTATCTTGTAAAAATAAATCCAACTTTGTGTCTAAAAAGTTAAAGATTCATAGCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135999_MULTIEX2-3/4=2-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.935 A=0.815 C2=0.667
Domain overlap (PFAM):

C1:
PF067527=E_Pc_C=PU(18.2=91.3)
A:
PF067527=E_Pc_C=FE(22.9=100)
C2:
PF067527=E_Pc_C=PD(10.0=92.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGGGGTATCACAGAAGAGCA
R:
CACACCATCAGCACAGGTCAG
Band lengths:
243-403
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