Special

HsaINT0116941 @ hg19

Intron Retention

Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188kDa [Source:HGNC Symbol;Acc:17859]
Coordinates
chr9:131765596-131767500:+
Coord C1 exon
chr9:131765596-131765733
Coord A exon
chr9:131765734-131767425
Coord C2 exon
chr9:131767426-131767500
Length
1692 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
3' ss Seq
CTCTCCTGTGTCTCTCCCAGGTC
3' ss Score
12.47
Exon sequences
Seq C1 exon
TGCCTCAACGCAGTGAGGACAGTGCAGAGTCTGGCCTGCCTGGAGGAGGCGGACCACACCGTGGGTTTTATTCTGCAGCTCTCTAACTTCATGAAGGAGTGGCACTTCCACCTGCCTCAGCTCATGCGTGATATCCAG
Seq A exon
GTGGGGGCCCAAGATGGTGTCTTGGAGTCTGGGGTAATGCTTGGAGACAGGGAGGCTGTGAGGTCTCACTGGGGCACTCCTAGTGAATTGCAGGATGTTCCTGAACGGGGGCTTTTCCCTTGGGGAGCACAGGGTTTGCTGTCATGTGCTTACTCTGGCTAAATGTTTCCTTCCATAGTCAAGGGCAGCCATGTAGGTTAAGAATTTGGACTTTTATCAGTTAGATCTTGGTTCAGATCCCTTAAGAATACACTTGGGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGTGACTGTAATCCCAGCTACTCGGGAGGCTGAGTTGGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTAGGATCGAACCATTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCCCAAAAAGAAAAAAAAAAAAAAATGGCCGGGTGCAATAGGCTCACGCCTGTAATCCCAGCACTTTGGGAATTCAAGGCGGGAGGATCATGAGGTCAGGAGCTCGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAACAAAAATTAGCTGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGATCGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCGAGGTCACGCCACTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTAAACTAAACAAAACCAAAAAAACACACACAACTGGAGCTGGGAACCAGCTGGAGAAGGGAGGGGTGAGGAAGGAACACAGGCTCCAGAGCCAGGCAGGCTTCTCTTATCTGCTGGTTGTATGACCTTGGCCAAGTCACTTGTTACTTGTAACCTTTTATTCTTTTCCTATAAAATGGAATCAGCCATAATCCTCATCTTATTTTATTTATTTATTTATTTTGAGACAGAGTTTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGCTGACCTCGTGATGCGCCTGCCTCGACCTCAAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCATCTTCTTTACTTTAGGACCTTACAATATACCAGGCACCTAGCTGGGTCTCAGGGAGACAGTCCAGTCCTGAGCCCTGCTGGCCCAAGTTTGTAGCCCTGAGTACTTAGTGGCTATAGGGGCTTTAAGCTGGAAAGTGGCCAGGGGAGCATGAGGGAAGGAGGGAGAGAAGGGGAGCATGAGGGAAGGAGGGAGAGAAGGGGAGCATGAGGGAAGGAGGGAGAGAAGAGCAGCAGCGAGTGAGGAGCGCATGGGTGTTACATGGAGGGCTATTGGGTTGGTCTGGTTGGGTGACTGGGCTGCTGACAAGAGAATCCGCTCATCTCTCCTGTGTCTCTCCCAG
Seq C2 exon
GTCAACCTGGGTTACTTGTGCCAGGCATGTACCTCTCTCCTGCACAGTCGAAAGATGCTGCAGCATTACTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319-NUP188:NM_015354:38
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.008 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
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:
CTCAACGCAGTGAGGACAGTG
R:
GCTGCAGCATCTTTCGACTGT
Band lengths:
199-1891
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