HsaINT0117075 @ hg19
Intron Retention
Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134014668-134016097:+
Coord C1 exon
chr9:134014668-134014794
Coord A exon
chr9:134014795-134015935
Coord C2 exon
chr9:134015936-134016097
Length
1141 bp
Sequences
Splice sites
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
3' ss Seq
TTTGTTTTCTTTTTTAACAGGTG
3' ss Score
12
Exon sequences
Seq C1 exon
ATTAATTGGGAATCTTGGCTACTGGAGGATTCTAGTCGAGCTGAATTGCCTGTGACAGACAAGAGTGATGACTCCTTGCCCATGGGAGTTGTCGTAGACTATACAAACCAAGTGGAAATCACCATCA
Seq A exon
GTAAGTGTAGCCTGGTAGTTAGTGCAGAAATAGTCTTCTTTCTAGTTAGGGTTAATATTGAAACACCAGTTACATGTTACTGACAGAGTCTACTCTGCTGGGCACTTGTAGCTTCTGGCAGCACATTTCTCCCTGAAGAGTGATAACAGGCTGCGTTGTGACAACACTAAACTGATTTGAATGGATGTTCGTTGATGAGACCAAGGCCAAACACTGTATGTATGTGTGGGTGCATGTTTGCACACTTGCACATGTCTGGGTGTACTTTAGAATCTGGTTGAAATATAGAACATCAGGATTTTATGGCTTGGTTTCTTTGTCCAATCCAATTCCCTGGTGACCTCCCAAAGAAGCAATACCCGAATCTGGTACTGCACACAAGTACTTGGTTTGAAGGCAAGGATTAGAAAATAGAGACCTCAGGCCCATGGTTTCCAAATAGGGCCTAGATATGTGTTTTGAATAGATCTTCCCTGCAGTAGCTTGGCTATACTGTAGTCATTGAAATGTAAAAGTGCCACAAAAGAAACAGTCTTTGCCATCTGGTACTTAAGTTTAGAGAGGTGTCCCCGTCAGGCACCATTAAGTTGCTTGCTCCTTCCCTGGTTAGGCAGGAGTATTTGTTCTGATAAGCTCATTTGCTCTGATTCTCTTGAAGCCTTAACTGATAAAATACATACTTGTCATTCAGCTGTGAATGAGGATAAAGTGGTTTGACTCATCTTTCTGTGTCCTACTGTCCATTCCAAAGAGTCTAGTCTCATTTTCCTACTAACCTAAGTACTTCTTAGATATTCTTCTCTTGGTCAGGGGAATGCCAAGCCTACCTCCACTGAGGTACACAAGCCACTGAGACACTCATAAAAACTGAGGGACCTTTGGGAGAGTCAGAGCTACTGCGGGACTGATGGAGCTTCTAGGCAGGGCCCAGCAGGGTGGTGGCGATCTGATAGCGGCAGGAACTCTCTTTAAATAGCTGGTGCACGAAAGGCTGTTCAGATATAAAATCAGAACAAACTAACTTGAGCTGCTATTCAGATGAGTCCCTTAAACCCTCTTCATGTTGAGGGCAGTCTTTGCCTTCTGGGCTCAGGCCCTTAAATTCACTTGGTTTTTTTATTTTTGTTTTCTTTTTTAACAG
Seq C2 exon
GTGATGAAAAGACTCTTCCTCCTGCTCCAGTTCTCATGTTACTTTCAACAGATGGTGTGCTTTGTCCATTTTATATGATTAATCAAAATCCTGGGGTTAAGTCTCTCATCAAAACACCAGAGCGACTTTCATTAGAAGGAGAGCGACAGCCCAAGTCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883-NUP214:NM_005085:10
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.256 A=NA C2=0.364
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATTGGGAATCTTGGCTACTGGA
R:
CTGGTGACTTGGGCTGTCG
Band lengths:
286-1427
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)