Special

HsaEX6063377 @ hg19

Exon Skipping

Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188kDa [Source:HGNC Symbol;Acc:17859]
Coordinates
chr9:131748837-131749996:+
Coord C1 exon
chr9:131748837-131748957
Coord A exon
chr9:131749088-131749154
Coord C2 exon
chr9:131749868-131749996
Length
67 bp
Sequences
Splice sites
3' ss Seq
CTGTCTTTTCTGGAGTCCAGGTT
3' ss Score
2.79
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
GGGCAACTTGGTAGTACCCAGAGCCAAGGACTTGTACCCTGTGTAATGTTTGTGCTGAAGGAGATGCTTCCCAGCTACCATAAGTGGCGCTACAACTCTCATGGAGTGAGGGAACAGATTG
Seq A exon
GTTGCCTGATCTTGGAGCTGATTCATGCGATACTGAACCTGTGCCACGAGACAGACCTGCACAGCAG
Seq C2 exon
TCATACTCCCAGCCTGCAGTTTCTCTGCATCTGCAGCCTGGCATACACAGAAGCAGGACAGACAGTTATCAATATCATGGGCATTGGCGTGGACACCATTGACATGGTGATGGCTGCTCAGCCTCGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319-'27-30,'27-29,28-30=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF104874=Nup188=FE(4.4=100),PF118943=DUF3414=FE(8.1=100)
A:
PF104874=Nup188=FE(2.4=100),PF118943=DUF3414=FE(4.5=100)
C2:
PF104874=Nup188=FE(4.7=100),PF118943=DUF3414=FE(8.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
TGGTAGTACCCAGAGCCAAGG
R:
CCTGCTTCTGTGTATGCCAGG
Band lengths:
170-237
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains