HsaINT0117077 @ hg38
Intron Retention
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131144280-131146304:+
Coord C1 exon
chr9:131144280-131144754
Coord A exon
chr9:131144755-131146128
Coord C2 exon
chr9:131146129-131146304
Length
1374 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
TTCAGGCTGCCATTTTTCAGGTT
3' ss Score
7.23
Exon sequences
Seq C1 exon
GAAGTACTCCCACTACCCCAACCTCCTCTCAAGCCCCACAGAAACTGGATGCTTCTGCAGCTGCAGCCCCTGCCTCTCTGCCACCTTCATCACCTGCTGCTCCCATTGCCACTTTTTCTTTGCTTCCTGCTGGTGGAGCCCCCACTGTGTTCTCCTTTGGTTCTTCATCTTTGAAGTCATCTGCTACGGTCACTGGGGAGCCCCCTTCATATTCCAGTGGCTCCGACAGCTCCAAAGCAGCCCCAGGCCCTGGCCCATCAACCTTCTCTTTTGTTCCCCCTTCTAAAGCCTCCCTAGCCCCCACCCCTGCAGCGTCTCCTGTGGCTCCATCAGCTGCTTCATTCTCCTTTGGATCATCTGGTTTTAAGCCTACCCTGGAAAGCACACCAGTGCCAAGTGTGTCTGCTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACCTCTGCTGTCAAAGTCAACCTTAGTGAAAA
Seq A exon
GTAAGTCACTTCTAAAGTTTGATTCTTCTGTGAGTTGGGTAGAAATATTGGATGTTATTTACTAAAAGTAGAGTCACTCTGAGAGGAGTTAACTGAGTAGAATTTTTTTACCCAGAGTGATACTTGCAAATGGCAAAAATTCAACCAACATAAAATACTGGCATTTCATCAGTGAATAGAGTCCAGAAGGGTCTCTTAGCTAGCATTTTATTTTTTTGACTATGGGATTTATATTCAGGTATTTGTTTTGCTTTTTTACGTTACAAATGTAGGAAATATTCCTTATTTTAAAAAAAGAAGCAATCCAGAGTATGCATCCTGGAAGGGAAATGAATCCCTTGTAGTCTTTTTTCCTCCCTGTGTCTACCCTTAACTCTCTCTGAACTGCTGTCTACACAGCCACAAAGTCATCTTGTGACACTGTAAATTGTTAGGTGATTCTTCTGCTTGACAGTCCCTATGAAGCCCCGTGGCTGCTCACTGCTAATTCTTAGGTTGGTATCCAGTTTCCTCCAGATCTGGGTCGGGCAGCTCACTCATTTCTTATTTATTTACTTCTTTATCTTGTTCTTTTCTTCCCACTAGAATGTAAGCTTTTGGAGGGAAGCAATCCCTTATATCTTGTAACCCCTCCCAAGATAACCATGAGTTCCCAAGATAACCATCGAGTATAAGTACTACCAGCTTTTTCCCTACTTGCCTGTACTATCTGTTGTTGCTATGGTGGTGCTGCTGCCACCACAGTTACTGTTAATACTGAATTGGCACACATCCACTTCATGCTAAGGGTTGCATAGTGTTCCATTTTGTTGACTGCACCACAGTTTATCTGACCAGTCATCTAATGCTGGAGTTTAGATTGTCTACAGACTTTTGCTCTTTAGGTGGAACCGACTTTACATTTCCTTTAGGCCATAAGTATCCCAAAGACAGTTCCCTGCATTCCTCTTCCTTTTTCACTCCCCAGAGAAGGTGCTCACTCTCAAAACGAGTTCTCAGTAATTTCCTTGGTAAGAGAAAGTACTAACTCTCCTAAGCATAATTGTGTCCCACCTCCTGTTTAAAACTCAGCTGGAAACAATAGTATTTCATATCATGATAAACTTGGTATTTCATATTGTGATAAACTTAGTTTTGATATTTCCCCTGAATAATTAATTCCTAAATAAGCAGACGAAAAGATAAATGTTTCCTTGCAGCTTTCACCTTTTATAAGAAATAGCTAAACATTTTTGTTTCCTGAAGGCAAAAAGTATGTTATCTTTGTAAGTTAACATAAAAGATAATAAGTTATCTTTTGATGACATTGCTCATGCTAGTGTAAAAGAATCTTCTAGCAGGCTCTTCTGAGGCCTTCAGGCTGCCATTTTTCAG
Seq C2 exon
GTTTACTGCTGCAGCTACCTCTACTCCTGTTAGTAGCTCCCAGAGCGCACCCCCGATGTCGCCATTCTCTTCTGCCTCCAAGCCAGCTGCTTCTGGACCACTCAGCCACCCCACACCTCTCTCAGCACCACCTAGTTCCGTGCCATTGAAGTCCTCAGTCTTGCCCTCACCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883:ENST00000359428:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.676 A=NA C2=0.997
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTAAAGCCTCCCTAGCCCC
R:
GGACTTCAATGGCACGGAACT
Band lengths:
349-1723
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