HsaINT0117100 @ hg38
Intron Retention
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Coordinates
chr9:131228160-131230769:+
Coord C1 exon
chr9:131228160-131228331
Coord A exon
chr9:131228332-131230629
Coord C2 exon
chr9:131230630-131230769
Length
2298 bp
Sequences
Splice sites
5' ss Seq
CGGGTAAGC
5' ss Score
9.14
3' ss Seq
TGTTTCTCACTGGAGCGCAGGTT
3' ss Score
1.21
Exon sequences
Seq C1 exon
GTGGCTTCGGTGCTGCTCCAGTGTTTGGCAGCCCTCCTACTTTTGGGGGATCCCCTGGGTTTGGAGGGGTGCCAGCATTCGGTTCAGCCCCAGCCTTTACAAGCCCTCTGGGCTCGACGGGAGGCAAAGTGTTCGGAGAGGGCACTGCAGCTGCCAGCGCAGGAGGATTCGG
Seq A exon
GTAAGCCCCCTGGGGAGGGCCCTTGGGAACCCACACGCCAGCCAAAAAGCACTAGGGGCCTGTACTCTTGCTCTGAAAAGAAATTTGACCATGAGGTGAAGGCCCCTCCCTTGAAATTTGTGAACAACTCCCTCAAGGATTCCTGTACCTCTCCAGGGTAAGACTCATTTCGTTCAAGCCAGGCTTTGTTGAATTCATGGTGGACCTCAGCTGTGTTGCTGTTCCCTGGTATGAGAAATGCTGGTCATCAGAGCCCCTGTTCTCCTGCTGGGGCTAAAGGAAGGCACCAGCCCTGCCTTAACTACTGCTTTGTAGCCAAGAGGTGCCCCGGTGTGGAGCTTCTGTTAGGAAGTCCTCAATGAATGGTTTTCACCAGATTCTTTCCTCTTGGGATTATTCTGTGTTAGACCCGTTGTCCTTGAACAAACAACTCCCTGTGTCCCCTGCTCCCCTGCAGCCCCCCAGAGTGAGTATTCAGTTGCACAGGTCCTCCCGTGGGAAGATCCTGGATGATCAGGGATTTCGAAGCTGCTCTCATTGCCTCGTGTGCGTCTGCACTGGAAAAGGCCATTTTTAGGGAGTCGCTTTTAAGGGCAGAATTTCAGTGTGGTTGCCAAAACCCCAAGGGAAAAAAACCTTCACCACACCACAACATCCCAATTTAAAAAATGTACACGGGATGACTACCAAGTCTCTTGTTCAAAGGAGGTGTCGATGCCTGAAAGGAGTTCTAAAACGCCTCTTGCCGCAGTACTGGGCTCAGCATGAGCTGAAGGTTTGGGGGAGGGGAGATGATTTTGTCTAGGGGAATTGTTGAGATACTTGGATCTGAGTCTTGGCAAGATGACAGCATCTTTATCTTGAAAATAAACTATAGTATGTTCTTACTCACACCCTTCCCCTCCGTGCAAGATGCTGGAGCGCAGCAGCAGGAGTGAGAGGGTTGGCGTGCTGCTTCTCCTGTTTCACGGGAGACTGATGCCTTAGGTTTGCCCTCAGGAAACCCCAAGAATTAAAGTTAAGGAAAGCTTTGAAAGGACAGTTAGAGACCCACTTAGGCTGGTATTCTCAGAGGTCTTAATGGATGCTGTTCTCTGCAGTGATGAACCAGCACACAGTACCACAGAGTTGGTAGAAGGTTTGGGTTGGCTGGGTATCTTGTGAATTGATTTATTTATTTGAAACCAGCTGTTTTCTTTACTAGTAGAAAAGTATATTCTGCCTTGGGGCGGCTCTCACACAAATCCCGATTGGCTGGTTAGTCAGTCCTAAAAAAGGTTAATGCCAGGTCAGTTATTAAATCTCCATAAGAGCCCATTACCTTCTTCCAGGTCCCTGGCCATGAGCCTGTCTCCGACCCTGAAGGGCAGGCTGTTGCTGATGAGGCCCAAGGCAGGAGGAGGAAGGGAGCAGGCCGCTCCTGGGAGAAAGTCCAATGAGAGCAGATCCCTTGGCCACCTTTGTATGGAAAGAGCCTTGACCTCACCATTAAAAGTGAATAGAATGGTGGGAAGGCAGAGTTTTAGATACTTTTTCTTGCTTTGGGGTTGATTCTTGCCCCCAGGTGCTGCCCCTTCTCCCAGAAACCACTGATCCGTTTCCCTCACCTAGTCACCTCCAGACCCCAGAAGCTCTCCCCAACCCAGCCGAGTTCCTCTGCAAACAATTCAAGGGGCTCTGATAGGTCACACAGTGCCACCTTGTGTGCTGGACCATATCTGGAGGGAGAACTGAGTGAGGGGGCACAGGGGATTGTCTCCAGGTGGGGCGAGCAGGGGAAGGAAAATAGTGGCCACTTTTACATTGGTTTGGGTAGTAATTATTGATTCAGGAAGCAAATACAAAATCCTGAATGAAATGACTTGGAAAAAGTAAATAGAATCAAGATCCCAAGAGGAGCTGAAGATAAATAAATGGGAGCAGGATGTGGGGGAATGGTCGGTAAGTGAGAAATGCTAAAATGATAGAATAAAGCTTAAGGATTGTTGGAGGTAGAGCAGGAACTGTGTACTGCATAGTTCCCAAATGCCCTGGTGTTCCAATGGGGGATGGAAACTAAAACACTGGCCAGGTTGGATTTCATACTGTAGTCCTGCCATTTTTCTTCCTAGAGCAGAGATAAAAGTTGGCCCTGGGCGATAGCTCATTCTCTCTGAAAGGCTGCTAGTTAGGCCCAGCCTGTCACCCTGGATCATGAGTGTCGTGTGTATTGGGACTTACAGCAGGGGGCTGAGGCTTGCAGATGGGCAAGTGGTGAGAGGCCCCACTGACCTCAGTCTGTTTCTCACTGGAGCGCAG
Seq C2 exon
GTTTGGGAGCAGCAGCAACACCACATCCTTCGGCACGCTCGCGAGTCAGAATGCCCCCACTTTCGGATCACTGTCCCAACAGACTTCTGGTTTTGGGACCCAGAGTAGCGGATTCTCTGGTTTTGGATCAGGCACAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883:ENST00000359428:33
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.326 A=NA C2=0.230
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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