Special

HsaEX0044304 @ hg38

Exon Skipping

Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128994856-128995514:+
Coord C1 exon
chr9:128994856-128994923
Coord A exon
chr9:128995104-128995228
Coord C2 exon
chr9:128995319-128995514
Length
125 bp
Sequences
Splice sites
3' ss Seq
ATGGCATTTATGATTGTCAGAAA
3' ss Score
1.53
5' ss Seq
AAGGTCGTT
5' ss Score
1.09
Exon sequences
Seq C1 exon
CCCAGCATCCTGGAAACCTGTGCCCTAATCATGAAGATAATTTGCTTGGAGATATACTATGTAGTAAA
Seq A exon
AAAGAGTTATTGTGAAGCAAACTCCATGCAACTGGGATTTTATGGAGGAGGAATCCTGGAAAGGCCTCAGCCTAACCCACACGTTGGAGGTGTCCTGGAGCCGTCTGCCTTTAAGCCCATGCAAG
Seq C2 exon
GGGTTCATTAGACCAGTCATTAAAGGATACACTGAAGAAATTTTCCATCGAGAAACGCTTTGCCTACTGGTCAGGGTATGTCAAGTCATTGGCAGTTCACGTGGCCGAAACAGAAGGCAGCAGCTGCACCTCCTTGTTAGAGTACCAGATGCTGGTGTCCGCCTGGAGGATGCTTCTCATCATTGCCACCACTCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319_CASSETTE6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.093 C2=0.000
Domain overlap (PFAM):

C1:
PF118943=DUF3414=FE(4.4=100)
A:
PF118943=DUF3414=PD(1.2=14.0)
C2:
PF118943=DUF3414=PD(1.4=10.6)


Main Inclusion Isoform:
ENST00000372577fB4822


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
TCCTGGAAACCTGTGCCCTAA
R:
GATGAGAAGCATCCTCCAGGC
Band lengths:
242-367
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