Special

HsaINT0117076 @ hg19

Intron Retention

Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134015936-134020141:+
Coord C1 exon
chr9:134015936-134016097
Coord A exon
chr9:134016098-134019666
Coord C2 exon
chr9:134019667-134020141
Length
3569 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
TCCTTTTTTTGTCACTGCAGGAA
3' ss Score
10.14
Exon sequences
Seq C1 exon
GTGATGAAAAGACTCTTCCTCCTGCTCCAGTTCTCATGTTACTTTCAACAGATGGTGTGCTTTGTCCATTTTATATGATTAATCAAAATCCTGGGGTTAAGTCTCTCATCAAAACACCAGAGCGACTTTCATTAGAAGGAGAGCGACAGCCCAAGTCACCAG
Seq A exon
GTATGTGCCTCTGCCTGCTTTATCAGTAAGGGAATACCATGGGCTTGCACAAGAGTATTTCCAAGAATGAACATGGTGTGAAGACACATAGTGATTATCTTTACCAGCCTGGTCTGTCTTAGGAAGGCACACACTAATCTTTTTTTTAAACATGCATGTACATATTTGCCTTCCCCTACCCTCAAGCTTTATTCTGCAGCCATTACTTTACTTCGGAGATGAAGGAAGGTCAACCAGATGATTTGCATCCAGTCGTTTACCAACAGTTTTCTAAGACCCTATATTATGTGATGTGCATCCAAAAGACATTGTGCTTAATCATGGGGGTTGGTTAAAGAAATGATTGTATAGTCTTACAGTGAAATGCCATGTACCAATTATAAATGTTATATTTATTGACAGGGAAGGAGTGAGTGGAATACATCACCAAAAAAAAAAAAACCACTATTCTTTGTGATCTTTTCTGTATGAGAAAAAACATATACATAGAAAAACAACTTGGAGATGGATTTAAAGTCTAAATGGTGGTTATTTCTGGGTGATGGGAACATGGAGATTTTTGTTTATATTTTCTTGACTTTTTTTCTCCTTTTTGAAACATTTCTTAAGTAATAGATGTTTATTGAAGGAAAATGAGAGCATGCAAAACAATGGCCACAGTCAACATTTTGGTACCTATCCTCCATGAAAATGAATGCACACATATAAATACTAGTCTGTATTTAAACAATTTTTACAGTGACATTTGTATCACTTGTGAAAAGAAACTTTTTTTTTTTTTTTTTTTTGTGGAGACAGGGTCTTACTCTGTTGCCTAGGTTGGAGTGCAGTGGCATGACCACAGCTCACTGTAGCCCTAATCTCCCAGGCTCAGGCAGTCACCTAAGCCTCCCAAGTAGCTGGAACTACAAGCATGCGCCACCATATGCAGCTATTTTTTAAATGTTTTGTAGAGATAGGGTCTTACTGTGTTGCTCAGGCTGGTCTCAAACACCTGGGCTCATGTGATTCTTCTGCTTCAGCCTCCCAAAGTGCTGGGATTATACGCATGATACACTGTGCATGACCAGAAAATATAAAACTTTTAAAAAGAGCATTGTTTCATATGTTGGAATTTGACTAATATTTCTCTTTTTGAATTCTGTGAGTATATAACTGATACAATTTTTTTCTTCTATTATGACCAGTTTCTTACCTAAGCAAAAATGTATGACCAGTTGGTTTGTATAAGGTTAGCAATAACTTAGGGGTATATTCTCTTCCTGCATCCCAGTGCACAGTGAGTTGTATATCACAAATAGAGCCACTCAGATACTTGGGCCCTAACAACTGGCAGCACTACCCCAAGTGATATACCAGATGGCTTGCAGAGTGTTGTATCAGGGTAGTCCATTATTCATAGTGTGTGTACTCTTTGTGTTGTTTTTTTTTCCTCCTTATTCAGCCATGAATAAGGGTACCATGAACTACCTATACCCAGCTGCCTGGTGTGTCTGTAATAAGCAGAGCAGCCTGTGAGATTAGGAGCCTCTGGGATGGGACGAGGTTTGTTTCTGAGCCTTTGCTACTAGCCCATTCAATGCTGGAGCACAATCAGAGGCCAGTTTTACTGTTAGCCTTTCCTAGAGAAACTCCCCTCTTCCTTCACAGTTGGTCCAGAGGTTATAGTTGTGTTCAGATGTGTAGAAGAGAGCCCCTGCGGGGAGAAAGTCCGTCCCATCAGCTAAGTCTAGCTAAAGCCTACTTCATGGGTTCAGAAGACATTAATGGTTCCACCTGTTTCTACACTGCAGTTCTAAGGATGCTGTATTGATCAGAAGTAGTAGTAGCATGATGGTTTTCCAATAATCAGTTCTGTTTTCAGTGGAAAAAATGCTTTTGATTTATTTAGGGTCTGGTATATATTTTTCATGTCAGTTTACCTAATATGCATGAAAGTGTTTTAACATCTATGTATGTCTTTACAGAAGTTAGTTGTAGCTGGTTCCATATCTATTGTATAAAGAAGTATTAACAGAATAGGTTTGCTTGCATTATTATACTTTCATCAATGTGACAGTTTACTTGGATTTTTGTTTTCAGAAAGTGGTATTTTCATACTTGTATCTAAGTATTACGTTGCATTAGACAAAGTGTCTTCCATGAAGATAAACTGCCATCTTAGCTAATTTGGAACAACCAAGTCCTATTAATATAAATAGAAAATATTGACACAAAGAATTCTTTTCTTATTTAGTTGGTTATTTAATTTAAAGATTAATATTTTTACCTTATGGAAAGTTTGGAAAATAGAAAAAAAAATTATTCATTTTTGAGACAGGGGTCTCACTCTGTTGTGCAGGCTGGAGTGTAGTGGCAGGATCTTGGCTCACTGCAGCCTCTGTCTCCCAAGTCCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACAAGCCATCACACCTGGCTGATTTTTGTATTTTTTTTGTAGCAACAGGGTCTCACTTTGTTCCCCAGGCTGGTCTCAAACTCCTGGACTCAAAGGGTCCTCCTGCTTTGCCCTCCCAAAGCTCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCTTCCATTGACTTTTTTTTTTCTTTTTAACCATTTGGATTGCATTAAATATCTTTTTCATTTTTTGCATTATGTTTGTAAGCTTTATTCTTAGAAGAGAAATTACTGGGTCTGTTTTTTACAGTTTTTTATACAATGCCAAAATGTTTTCTTAAAAAAAATACTAGTTACCTACCAGTGATAAAAAGTTTCAGGTTTGTTTTACCCATCCAAACATAAGGGGTTAGACATATTTAAATTCTTATAATTTAGAGGACAAATTAAAAATGTACCTTGTTTATATTTCTTTGATTAGAGAGATTGAATGTGTTTTCTTTATGTGAGTTAGTTTCCCTGTTTATTAGTCCTGAAATTTTAAAATCTCAATTTGTATGAGCTTTTTAAAAAATAGAAAACATCTTATTTGTCATTTGCTATGGATCTTTTTTTTTAGTTCATTACCATTTAGTTATTGTACCTGAGTAGCTATTTTTTACACAAATCTTAACCTTCTCCCTTTGCGATTGTTTTTTTTTTGGTCACTTCTAAATTTATCAAGGTGTTAGATTCTGAGACCTAACATATCTATCAATTTGCCTCCTTTGTTTTGAGATACCTGTATTTATGTGACTTTCTATGTGTATTTATCTGGAATTACTTTTAGTGAAATAAGGTGGAGGTCTGAATTAAAACTTTTTCCTGGTTGTTAATGAAATGTTGCAGTGACTGAACTGTTTTGTGTGCCATAGTAGCACTGAGAAGTCCATGAAGTCCAATTATTCTAATGTCTTTCCTTAGTTTTCCTTCAGTTTCATTTATCTCATGAGACCTGAAAACTCCAACATGAACTGTGTACCCATGTGTTCTTTTTGCTTCTTAAACTAGTAACATTTCTGGCTTTATTCTACCACAAATTCTTTTTCACTTGCTTTCTATTATGTGAACCTCCACTGTTACAGTGTTAACATTTTCCTTCCTTTTTTTGTCACTGCAG
Seq C2 exon
GAAGTACTCCCACTACCCCAACCTCCTCTCAAGCCCCACAGAAACTGGATGCTTCTGCAGCTGCAGCCCCTGCCTCTCTGCCACCTTCATCACCTGCTGCTCCCATTGCCACTTTTTCTTTGCTTCCTGCTGGTGGAGCCCCCACTGTGTTCTCCTTTGGTTCTTCATCTTTGAAGTCATCTGCTACGGTCACTGGGGAGCCCCCTTCATATTCCAGTGGCTCCGACAGCTCCAAAGCAGCCCCAGGCCCTGGCCCATCAACCTTCTCTTTTGTTCCCCCTTCTAAAGCCTCCCTAGCCCCCACCCCTGCAGCGTCTCCTGTGGCTCCATCAGCTGCTTCATTCTCCTTTGGATCATCTGGTTTTAAGCCTACCCTGGAAAGCACACCAGTGCCAAGTGTGTCTGCTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACCTCTGCTGTCAAAGTCAACCTTAGTGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883-NUP214:NM_005085:11
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.364 A=NA C2=0.678
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
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