Special

HsaINT0116925 @ hg19

Intron Retention

Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188kDa [Source:HGNC Symbol;Acc:17859]
Coordinates
chr9:131749868-131750465:+
Coord C1 exon
chr9:131749868-131749996
Coord A exon
chr9:131749997-131750325
Coord C2 exon
chr9:131750326-131750465
Length
329 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
3' ss Seq
GTTTCCATTTGGCACCCTAGTGA
3' ss Score
3.87
Exon sequences
Seq C1 exon
TCATACTCCCAGCCTGCAGTTTCTCTGCATCTGCAGCCTGGCATACACAGAAGCAGGACAGACAGTTATCAATATCATGGGCATTGGCGTGGACACCATTGACATGGTGATGGCTGCTCAGCCTCGAAG
Seq A exon
GTAGGGCTCCTTCTCCACGTTCCCTTTGTCTGTCTTTATTGTGCCTGCATGTTACTAATAACTCCAGTTTAAGTTAACTTGCAGTAGCTTTTAGAAGACGACATTGTTCTTCCTAGGACATAGCCTTTACATACCCTAGTGGCTGCTGTATAGATTGGCGTATAGCAAAGGGAGTTGATTACTCCTCCTCTCTCCTAGTTTGGACTGGGGCCTCTAACAGAAGCTGTTGAACTCTGGGATTATTGTTGGAATCTAATTCATGAGAGCACATATATTGCGAATGAAGTCATACTGTCTGAATCATCTTTGGTTTCCATTTGGCACCCTAG
Seq C2 exon
TGATGGGGCAGAGGGCCAGGGGCAGGGCCAGCTGCTGATCAAGACAGTGAAACTGGCATTCTCCGTCACCAACAATGTTATTCGGCTGAAACCTCCTTCTAATGTGGTGTCCCCCCTGGAACAGGCTCTCTCACAACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319-NUP188:NM_015354:23
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF104874=Nup188=FE(4.7=100),PF118943=DUF3414=FE(8.7=100)
A:
NA
C2:
PF104874=Nup188=FE(5.1=100),PF118943=DUF3414=FE(9.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACTCCCAGCCTGCAGTTTCT
R:
GTTGTGAGAGAGCCTGTTCCA
Band lengths:
263-592
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development