Special

HsaINT0116933 @ hg38

Intron Retention

Gene
ENSG00000095319 | NUP188
Description
nucleoporin 188 [Source:HGNC Symbol;Acc:HGNC:17859]
Coordinates
chr9:128995319-128998228:+
Coord C1 exon
chr9:128995319-128995514
Coord A exon
chr9:128995515-128998150
Coord C2 exon
chr9:128998151-128998228
Length
2636 bp
Sequences
Splice sites
5' ss Seq
CATGTAAGA
5' ss Score
5.58
3' ss Seq
CTTTTTCTGTTCCTTTGCAGGCA
3' ss Score
12.94
Exon sequences
Seq C1 exon
GGGTTCATTAGACCAGTCATTAAAGGATACACTGAAGAAATTTTCCATCGAGAAACGCTTTGCCTACTGGTCAGGGTATGTCAAGTCATTGGCAGTTCACGTGGCCGAAACAGAAGGCAGCAGCTGCACCTCCTTGTTAGAGTACCAGATGCTGGTGTCCGCCTGGAGGATGCTTCTCATCATTGCCACCACTCAT
Seq A exon
GTAAGACCCTTTTGGGGAGAGTTTTCACTTTGGTACCTTAGCAATGATGTGTTGACATGAGCCTAGCAGATACAGCTCCTTGTGCGGAAGAATTAATCAGGGTTTATCCCTGAGAGCTAAACTGTAATAGGTTCTATGCTGAGAGATTGGGACTGTGGGGTATTTGAGGGTGTTGGGTCCAGGAGACCATTAAGAGGAATGCAGAGAAGTGATTTGAAATCCTTTCAGAGTTCCTAAAGCCTCCTGTACCTCCCTTAGGCCTTGGCTGGGTCTTAGCTGCTCCCTGGCTGCATCTGCCTCTTGTGCAAAGGCATAACTGTCTTCTCGTGCTGTGTACCTTGTAGATGCTAGGTCAATAAATACTTGTTGACTAGTCAGCAGGGAGCTGTGACAGCTGCAGCAGCACCCTCTCTAAAAAGCAGTTTGTCATTGGTTCTAGAAACTGCATTTCCTGGTCTTAGAAAAAGAACAGAGGCCATTGTCTCTGTACTCTGTCTACTGGGAGTTGGTTTTGAGAGAGAGAGATAACATCTGGAAGAAATGCATTGTTCTTGGCTTTTTTGTGGTTTGACTCCGTCACGCTGTATCATAAGGACTTGGTATTGAAGTGTTCTTTCTTGGGGTATCCAGATTAATTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGCTCCGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTTACTGCAACCTCCGCCTTCCGGGTTCAAGGAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTATAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCTTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCTTGGCCCAGATTAATCTTTTGACTTCATGAACAACTTCAGCTTGATAGATGCCTCCTTTTTCCAAGCACCTCCTACATCTGTGAAATTTGTTGCCTAGTGCCAGACTGCCCACATGCTTGGAGCTTTGAGCCTAGGAGGGGCAGGTTTGTGGCTACTCTTGCTGTGGCATGGTGGTTTTGGACCCCTAAGGCTCCAAACACACTTAAAGGCTCACCTGTCTTTGAGAATGGTTGATTCCCCAGGGTATAACCTTTATGTCACCTGCCTTTTAGGCCCTAGTTAGGCAGCAGTTCTTGAATTGTAGCTCTGAAAATCCCACCATCCTCTTTCCCCAAAGGAAACCTATCTGGCTCTCTGTCTCACCTGTCTACCTATACAAAAGAAAAGAAAAAAAAAGAGAAAGAAACCTAAGTCCAGGATGTTGGTCACCCATTCATTCTCTTAATGGCATTAGTGGAACGCTTCCAGGCATTGAGATGCAGCAGTGAATAAGGCAGATAAGATCTTTGATCGCATAGAGAGTGCCCTATGATGGAGGAGGTAAATTATAAACAAATTTAGCAATAAAAAATATGGTTTCAGATAGTGATAATTTGCTGTGAAGGAAATAATTAAAGTGCTGTGGTAATGAACACATGAGATAGAAGTAGTCAGGGTGGCCTTCTCTGAGTGGTGATGTCCCAGCTGAGAGCTGAATGTGTGAAGAAGCCTTCCAGGTGGAGCCCGTGGAGGAGAGAAGTCTAGGCAGATGGACTTGCAAGTGCAAAGTTCCAGCAGTGGAAAAGAGCTTGATATGTTCATGAAAGAGGCAAGCAGGGTTGGACTAGAGTGAGCACAGATGGGACTGATACTACATCAGTTGGACCAGATCCTGTGGGGTCTTTGGACCATGTTGAAGAGCTTGGTTTGCGTTTCCCGGGCACTGGGAAGCCTTTCAAGGATTCTAAGCAGAGGGAGGACAGAGTCTCAAAGAGGAGGTGAACCTGGGCTTGATTCTGACCATATCTAAGGGTTGACAGAAGAACAGCAGGGCCTTCAAGCCCTATTTTACTTTATTTTTTAGGGAACAGGATCTCACTATGTTGATCAGGTTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCAACCTCCAGGGCTCACGTGATCTTCCCACCTCAGCCTCCCAAGTAACTAGGACTACAGGCATGCACCACCATACCCAGCTAATTAAACATTTTTTGTTGTTGTTGAGATAGGGTCTCATCATGTTGCCCAGACTATAAGCCCTATTTTATTTTATTTATTTATTTAAGACGGAGTCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTCCACCGTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACCACGCCCGGCCTATATAAGCCCTATTTTAAATCAGGGAGACTGTTTTACCAATGACTAATTGCCTAGCAGAGGACCCCATGTTTCTTGGCCTCTAAAATCTGGAAAATTTTCCCAGCTGAAACCTTTTTCTGTTCCTTTGCAG
Seq C2 exon
GCAGATATAATGCACCTGACTGACTCTGTGGTGCGTCGCCAGCTCTTTCTTGACGTGCTTGATGGAACCAAAGCATTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095319:ENST00000372577:30
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:
PF118943=DUF3414=PD(1.4=10.6)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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