HsaINT0117092 @ hg38
Intron Retention
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131189053-131192292:+
Coord C1 exon
chr9:131189053-131189131
Coord A exon
chr9:131189132-131192207
Coord C2 exon
chr9:131192208-131192292
Length
3076 bp
Sequences
Splice sites
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
3' ss Seq
TTTTTTTTCCATAATTTCAGGGA
3' ss Score
10.02
Exon sequences
Seq C1 exon
GGGTCTCTAATAAATTCCCTTAAGCCATCTGGGCCTACACCAGCATCCGGTCAGTTATCATCTGGTGACAAAGCTTCAG
Seq A exon
GTCAGTTTGCATTTTTGTTTTCTTGAAAAGTGAAAGAAGCACTCCACAATAGGGGTTATTGTTCTGGATCACTGAGACAGTTGCCATAGGAAACAGGAGTCACATTTGATGAGATCGGGAGCATTCAGGGTAGTATGACCATAGACAAGAGATCATATTTGAAAGCCGTCAGCTAATGAAGAATTTCTAGAAAATTAGTATGCCCTTCAATGGCTATGTAGACTTCTGAAATTTTTAGGTTAGTTTGAAAATGATAGAGCAATAGGAGAAAAACCTCCCTTTAAATTCTTTTCCTAAAATGGAGCAATAGTATTATCTTTTTCTTCCTTGCTGGATGATCACAGTTGAGAGGAATGGATCAGAATGCTAAACGCTATTTCTTCCACTAAAAGGAATTAAAAATTCTGTTGGTCCACAGTGACAGTTCAAAAGCCTATAAGGTAGAGAAAGTGAAACAGATTTGTAAGATCTCAGAGTATATAATGAGTCGATATTATGAGATTTTATGGCTTCACGTAACTTCTCCTACACTCACTCAAGCATAATTATTCTTAATTTAGTTTTCACAGTAACCATGAGTGTTTTGACCAGACACTTTGTCCAAGTGTCATTGCCCAAACCAACTTTATGCAGAATGTGGGTCTTCCTCAGTGTCCCCTTTTGTTGGCTCCTTTATTATAGCCTACCTAATTTGGCGTGTATTACTTCCTGCTGCAAGGGTCTTGTGCTGTCTGCAATACTGAATTTTTACAACACTGTTGATTCTGGCATTTGTTTCAATCATGCTCTTAAGTGGGCCTTCAAGCAAATTCTGTTAGAAATTGAACTTCATACATTAGCAGCCTGCGTCTCATAATCTTAATCATACAGTCATTCTGACTTTCTCTGTAATCCCAAACTTTCTGATTGGATACTGGATTTATCTTTAGTAGCTATTCCTTGCAGAAGGAAGCCATTATTGCATAAGCCAGAGTTGTATTCTAGAATTCGGAGTGATATGGAACCACAGTTGGTATCATGTACGCCTCACATGAGAAGGAGGTATCTAGCACTTCTCGACCGGGGCCTAAAGCTTTATGTTAAAAGGAAAATTATATAGTAGAACTGTCAAAGACTTGAGTATTTTACAAAAAGGTTTTGAAAGATCATATACTCTTTTTTCAAGGACTTCATTGGAGAGGTTTTTGTCACTCTTGGAGTTAGAATCAAAGAAACCTAAGGAACTTTGCTTTATGCATGTCTGGGCAAGTAGTGTGACTTGCAAGAAATTTCCGAGATTCACCATTCATTGCTGATCATGAAATCCTCTCTTTTGTTACGAGGTGTTCACTTCTGTTTTCACTTGCCAGGTAATCAAGGTTTAGAAAAGAACTTTTTTCTTTTGGTAGGAAAACTTCCCTGAAAGGTGCTGCTTAAGAGTTTGCAAAAAGTTTCTTTTTGAAAAAGAGCATTTCTAAAACCTCTAGAGAATAGTTCTCTTATTAGTAATGGAAATACCTTCATTGTTTTTCTGATTGTAAAACTATTACATGCCCAGAAAAAGCCTATGGTGTAGAGATATATAATGTAGAATGTGAAAGCTGCCCTATAGATTCTGTATTCCAGAGATCATGATTTCATGTATATCTCTTGAGGTTACTTCATTGTTTTTTAAAGAAAAATATCCTATATACTGTATATCCTATATATATTGATTTTGTAACTTATTTCCCCTTCTCTGCCCCCTCTTACAATAAATGTCTTGGTCTCTGCAGGTCTGATACAGATCCACCTTACTCATTTTAAGAGCTGTCTACAACCTCATTGTGTAGTTATACCCTGTTAAATTTAACTAGTACTCTGCTGATGATTTAGATTGTGACTTTTCATCCTGTACATTTTACATTGTATATCAGTAGTTTTAAAAATATTTGTACTGCCATCTACCCTGTGTTTGTTTATTTTAGAAGGTTGGTGTTTTTTTTTTCTTGTTGTTGTTTGGTTTAGTTTCGTTTGATTTGGGCTTTTAAATAGTTTTCCTCTTTCCTTTCCCCCTTTTGAAGTGGAGCAAGGCCAGGCCTGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAAGTCAGGAATTCGAGACCAGCCTGGCCAACGTGATGAAACCCTGTCTCTACTAAAAAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTATAGTTCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGTCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCTAAATAAATAAATAAATAAAGTAGAGCAGTAGGGAAAAGATTGAAGATTGTACCCAAACTATAAGTAAGTAGTTAGAGTGAAATCGAACATGGGGAGAATGATGGATTGCACTTTTAACCTTTTTGCATGTCTCCATATTATAGCAATCATGTTTTACATCTGTAATTTTAAAAAAAGAACACGATTATTTGTTAAATGCCAACAAAATCTGTGGAAAATGCAGAAATGTATATAGAAGTAAACAGCCTTAAAGTCACTACTCAGAAATATTTAGCTTATGAACCTATTTCTCTTTTGGATTTTTGTCCTTCAGCATAGATTAATTTCAAATAATTATAAAGCTACATTATATATAGTTTTATTTACTTTTGTGGGGAGGGGGCTTAGCCTCACATTATAAGCATTTTCCCATACCATTGAAATATATAAGAGTGTACTTTTAAAACTGTACATTTAAACTATACTAGAATTATTTTGATATATTTTCTGTAAAGGAGAAGATGGCACACCTTAGACTGGAATTAACATTGACAGAGCCACGGAGCAATTTCAGAGACCTCAAACACAAGTGAGGCAACGTGCTCACTCCCCATGGCCACTGACGTGTCACAGAAGGCACATGTGGTGCTAAGCAGCACCTCACAGGCTGAGCTACAGGGAATTATACACTGGAACAGTGTTTCTGTCTTTTTGTAATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTCCATAATTTCAG
Seq C2 exon
GGACAGCCAAGATAGAAACAGCTGTGACTTCAACCCCATCTGCTTCTGGGCAGTTCAGCAAGCCTTTCTCATTTTCTCCATCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883:ENST00000359428:26
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.990 A=NA C2=0.763
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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