Special

HsaEX6063531 @ hg38

Exon Skipping

Gene
ENSG00000130713 | EXOSC2
Description
exosome component 2 [Source:HGNC Symbol;Acc:HGNC:17097]
Coordinates
chr9:130693721-130697627:+
Coord C1 exon
chr9:130693721-130693913
Coord A exon
chr9:130695492-130695593
Coord C2 exon
chr9:130697582-130697627
Length
102 bp
Sequences
Splice sites
3' ss Seq
GTATCTTCGCCTTGCATCAGGGG
3' ss Score
5.36
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GGCCTGGAGTTGTGGAGTCGGATATCGCAGCTCCCGACTGAGCTGCGCCTGCGCAACTCATTGGCGCCAAGATGGCGATGGAGATGAGGCTTCCAGTGGCTCGCAAGCCTCTTAGCGAGAGACTGGGCCGCGACACTAAGAAACATCTAGTGGTGCCGGGGGATACAATCACTACGGACACAGGATTCATGCG
Seq A exon
GGGCCATGGAACGTATATGGGAGAAGAGAAGCTCATTGCATCTGTTGCTGGCTCTGTGGAGAGAGTAAACAAGTTGATCTGTGTGAAAGCTTTGAAAACCAG
Seq C2 exon
ATACATTGGTGAAGTAGGAGACATCGTAGTGGGACGAATCACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130713-'0-1,'0-0,2-1
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.283 A=0.029 C2=0.000
Domain overlap (PFAM):

C1:
PF143821=ECR1_N=PU(38.5=36.6)
A:
PF143821=ECR1_N=PD(59.0=65.7)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGGAGTTGTGGAGTCGGAT
R:
TCTGTGATTCGTCCCACTACG
Band lengths:
236-338
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains