HsaINT0117094 @ hg38
Intron Retention
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131195233-131199015:+
Coord C1 exon
chr9:131195233-131195294
Coord A exon
chr9:131195295-131197215
Coord C2 exon
chr9:131197216-131199015
Length
1921 bp
Sequences
Splice sites
5' ss Seq
AAGGTACAG
5' ss Score
8.04
3' ss Seq
TGATTTCTTTTTCTTGCTAGGGG
3' ss Score
8.53
Exon sequences
Seq C1 exon
GACTGGCTTTAATTTTGGGATAATCACACCAACACCGTCTTCTAATTTCACTGCTGCACAAG
Seq A exon
GTACAGACTCTGTGTTGAGTAGCATTACTCATGTGTTTTCTCTAAATAAGTACAGGTTATTTTTGCCCACATGTTAGTATTTGACTTGTTCCTGAATCTTACTTACAGTATCTGCAATAAGCTCAGTGTTGATAATGTGCATTAGAAATATGCTTAATTTAAGAAACTGATGTGAAGGATTTCTATTTTTATAATTAAGGACAAGGAAAGGATTTGCTTCTAGAAAATCAGGGCTGTGCTTTAACATTTAAATGTTAACATGTGAATTAAAATTTCTCCATTTTTTGTCTGTAATTTAAAATTTCTTCAATTTATAGGGTGATTCTGTAGGGCAAGATAGACATGGTAATAGATAGACTGTAGAAATGAAAGACCAAACTCGTTTTTTTCCTTGATAACATACCAGCAAACACACTCATCCCATGCATGTTGTTAAAAATCCATCAATAGACTGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTGTCTACTAAAAATACAAAATTAGCCAGCCGTGGTGGCGCATACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTGTGTCCCCCCCCCCCCCCGCGCCAAAAAATCCATCAATAGCATGTTTTTAACATTTAAAAGAATTTGAAGCCCTATAAAGAAACCAGATCTATTTGTTAAGTGCCTTTCAGTTATCCGTTTATGATTAAGTCTTTTATTTTATTTATTTATTTTGAGATGGAGTCTCACTGTTGTCATCCAGGCTGGAGTGTAATGGCGCAATTGCAGTTCACTGCAACCCCCACCTGCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCCCACCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGATTGATCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACGTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTCGTTACTCTTGTATTTATTAACCACTGTTGTTTGACCAGGCCTTATGGGTGCTTTACCCATATTTCCTGCGATCTTTGTAACAGCACAATGAAGGTAGGTATTGTAATGATCTAGATTTTCCAAATGGGGGAATTGAGGCTCAGAGAGGTAAAGCAACCTTTCCAGATTCACACAACCAGCGAGTGGCAGAGTGCATAGCTCCAGAGCCCATGTCCTTGACCACCAGACCGTACTGCCTCTGTCAAATAGCTGACTTAGTAGAGCACTAATAAGTAGCCATTAATTGTACATAAAAATGATTTTCTGTGGACTGACACTTTATTTGCTCATAAAAATGAAGGAAGAACTTCCATTTTGAATCAAGTCCTGGTCTATCAGGAGGTCCACAGGCCATTGCTGTGCTGAGGATGTTATTAAGGAAAGCACACAGCTAGGGTAAATTAAGGGAAGAGGCTTTTTTATTTCTCTTTGGGATAATATGTTAATTTCACATATTCTAGATATTTTGTATTTGTTGTGATTTAATGGTCATAAAAAAAGTATTTTTTCCTTTTCACCTCAGACGACTCAGAGCTGATGTTTGTGTGGAGAAGCACTCATTCCACCTCCTTAGAGAAAGCTGCTGTGAGAACAAGGCACCCTGACTCTGTAGAGGGAGGAGAGAAACTTTGGCTTAGAAACACAATCAGTGGAAATGTAATGGGTCATCTTTTGCTAAATCCAACCCATTTTCTGATTTCTTTTTCTTGCTAG
Seq C2 exon
GGGCAACACCCTCCACTAAAGAGTCAAGCCAGCCGGACGCATTCTCATCTGGTGGGGGAAGCAAACCTTCTTATGAGGCCATTCCTGAAAGCTCACCTCCCTCAGGAATCACATCCGCATCAAACACCACCCCAGGAGAACCTGCCGCATCTAGCAGCAGACCTGTGGCACCTTCTGGAACTGCTCTTTCCACCACCTCTAGTAAGCTGGAAACCCCACCGTCCAAGCTGGGAGAGCTTCTGTTTCCAAGTTCTTTGGCTGGAGAGACTCTGGGAAGTTTTTCAGGACTGCGGGTTGGCCAAGCAGATGATTCTACAAAACCAACCAATAAGGCTTCATCCACAAGCCTAACTAGTACCCAGCCAACCAAGACGTCAGGCGTGCCCTCAGGGTTTAATTTTACTGCCCCCCCGGTGTTAGGGAAGCACACGGAGCCCCCTGTGACATCCTCTGCAACCACCACCTCAGTAGCACCACCAGCAGCCACCAGCACTTCCTCAACTGCCGTTTTTGGCAGTCTGCCAGTCACCAGTGCAGGATCCTCTGGGGTCATCAGTTTTGGTGGGACATCTCTAAGTGCTGGCAAGACTAGTTTTTCATTTGGAAGCCAACAGACCAATAGCACAGTGCCCCCATCTGCCCCACCACCAACTACAGCTGCCACTCCCCTTCCAACATCATTCCCCACATTGTCATTTGGTAGCCTCCTGAGTTCAGCAACTACCCCCTCCCTGCCTATGTCCGCTGGCAGAAGCACAGAAGAGGCCACTTCATCAGCTTTGCCTGAGAAGCCAGGTGACAGTGAGGTCTCAGCATCAGCAGCCTCACTTCTAGAGGAGCAACAGTCAGCCCAGCTTCCCCAGGCTCCTCCGCAAACTTCTGACTCTGTTAAAAAAGAACCTGTTCTTGCCCAGCCTGCAGTCAGCAACTCTGGCACTGCAGCATCTAGTACTAGTCTTGTAGCACTTTCTGCAGAGGCTACCCCAGCCACCACGGGGGTCCCTGATGCCAGGACGGAGGCAGTACCACCTGCTTCCTCCTTTTCTGTGCCTGGGCAGACTGCTGTCACAGCAGCTGCTATCTCAAGTGCAGGCCCTGTGGCCGTCGAAACATCAAGTACCCCCATAGCCTCCAGCACCACGTCCATTGTTGCTCCCGGCCCATCTGCAGAGGCAGCAGCATTTGGTACCGTCACTTCTGGCTCATCCGTCTTTGCTCAGCCTCCTGCTGCCAGTTCTAGCTCAGCTTTCAACCAGCTCACCAACAACACAGCCACTGCCCCCTCTGCCACGCCCGTGTTTGGGCAAGTGGCAGCCAGCACCGCACCAAGTCTGTTTGGGCAGCAGACTGGTAGCACAGCCAGCACAGCAGCTGCCACACCACAGGTCAGCAGCTCAGGGTTTAGCAGCCCAGCTTTTGGTACCACAGCCCCAGGGGTCTTTGGACAGACAACCTTCGGGCAGGCCTCAGTCTTTGGGCAGTCGGCGAGCAGTGCTGCAAGTGTCTTTTCCTTCAGTCAGCCTGGGTTCAGTTCCGTGCCTGCCTTCGGTCAGCCTGCTTCCTCCACTCCCACATCCACCAGTGGAAGTGTCTTTGGTGCCGCCTCAAGTACCAGTAGCTCCAGTTCCTTCTCATTTGGACAGTCTTCTCCCAACACAGGAGGGGGGCTGTTTGGCCAAAGCAACGCTCCTGCTTTTGGGCAGAGTCCTGGCTTTGGACAGGGAGGCTCTGTCTTTGGTGGTACCTCAGCTGCCACCACAACAGCAGCAACCTCTGGGTTCAGCTTTTGCCAAGCTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883:ENST00000359428:28
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.778 A=NA C2=0.697
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGATAATCACACCAACACCGT
R:
AATCATCTGCTTGGCCAACCC
Band lengths:
358-2279
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