HsaINT0116926 @ hg38
Intron Retention
Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128988047-128990226:+
Coord C1 exon
chr9:128988047-128988186
Coord A exon
chr9:128988187-128990119
Coord C2 exon
chr9:128990120-128990226
Length
1933 bp
Sequences
Splice sites
5' ss Seq
ATGGTATGT
5' ss Score
8.35
3' ss Seq
TGTTTCCTGTGCTGCTTTAGGTG
3' ss Score
10.43
Exon sequences
Seq C1 exon
TGATGGGGCAGAGGGCCAGGGGCAGGGCCAGCTGCTGATCAAGACAGTGAAACTGGCATTCTCCGTCACCAACAATGTTATTCGGCTGAAACCTCCTTCTAATGTGGTGTCCCCCCTGGAACAGGCTCTCTCACAACATG
Seq A exon
GTATGTATTTCTCTTCCAGTCACAACATGGTATGTATTTCTCTTCCAGTCATTTTTGCTCATAAATACGTATCTTAGGCAGTGTTTTTGGATGTCAACAGTATTTTCTGCTTCTTGAGGAAGTTTGGGAATGATTACCAGCTCCTTTCCTGAAATTGGAAACAAAAGGACTAGATGGTACTTTATTTCTGCCTCCTATTGATGATAGAATAATAGTTAAGAATGCAGATTTGAAGTCAGACTGCCTTGGTTCAAATTTTGTATCCAATCAACTGTGTGACCTTGGGTACGTTATTAAACAACTCTGCCTCTGATTTCTCATCTGTAAAATGGGGATAATGGTACAGGTTGAGTATCCCTTATCTGAAATGCTTGGGACCAGAAGTGTTTTGGGTTTCAGATTTTTTTTTCATATTTTGGAATAGTTGCAGTATACTTACCAGTTTAGCATAAATCCAAAATGTTCCAGTGAGCATTTCCTTTGAGCTATAGTTAGAGATTTTGACACATTCCAGATTTTTTTTAATTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGCAGCATCTGCCTCCTGGGTTTAAGCAATCCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATCTGTCCCACGCCCGGCTAATTTTTGTTTTGTTTTGTTTTATTTTGTTGTTTTGTTCTGTTTGGTAGAGACGAGCTTTCGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACTTGCCCTCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCTAATTTGAGGTTTTCAGATTATGGATGCCTGTAGTATCTTCCTAATAAGATTATAATAAAGGGCTGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGACGGTGAGGCTGGGGAGGATACTTTGAGTCCAGGAGTTCGAGACCAGCTTGGGCAAAATAAGGAGACCTCCATCTATACCAAAACAAACAAAAAAAAGTAGCTGGGCCTGGTGGCATATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTTGGGGGATTGTTTGAAGCTTGGCAGGTCAAAGCTGCAGTGAGCCATGATTTTGCCACTGCACTCCAGCTTGGACAACATAGTGAAACCCTCTCTCAAAAAGAAAAAAAGATAGGCTGGGTGCAGTGGCTCACGCTTTTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTATGGTGGTGGGTGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATTTTAAAAATTAGCTGGACGTGGTGGTGCACGCCAGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGCAGTGAGTCGAGATCGTGCCACTGCACTTCAGCCTGGGTGACTGAGTGAGACTCTGTCTCAAAAAAAATTAATAAATAAATAAAAATTAATAAAATAAGCACCTATTTTATTCAAAATGTATCTTTGCTGTCGATGAGTTGGGTTGAACTGTTTATCCCCAAATTCTGACTATTCTTTTGCTCCTCAATCAAGAGAAGGATACAGCCACCTAGGTTTGCTGTGGCCCTCCAAGTACTTGAGGGTAAATTCCTTCACATACACACTGTGGGTCTTTTTTGAACAGTCAGTGCTCTAAGGACTTGAATTAGGCACACTTGATATCTAAACTGTTTCCTGTGCTGCTTTAG
Seq C2 exon
GTGCTCATGGAAACAACCTCATTGCTGTTCTAGCCAAATACATCTACCACAAACATGACCCTGCTTTGCCACGTCTTGCCATTCAGCTGCTGAAACGTCTGGCCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319:ENST00000372577:24
Average complexity
IR
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(5.1=100),PF118943=DUF3414=FE(9.5=100)
A:
NA
C2:
PF104874=Nup188=FE(3.8=100),PF118943=DUF3414=FE(7.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCCAGCTGCTGATCAAG
R:
GTGGCCAGACGTTTCAGCAG
Band lengths:
222-2155
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