HsaINT0112169 @ hg19
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152536235-152536536:-
Coord C1 exon
chr2:152536432-152536536
Coord A exon
chr2:152536343-152536431
Coord C2 exon
chr2:152536235-152536342
Length
89 bp
Sequences
Splice sites
5' ss Seq
GAGGTGCGT
5' ss Score
8.42
3' ss Seq
AAATGACATTTTTCTTTCAGAAT
3' ss Score
7.65
Exon sequences
Seq C1 exon
ATCGCTTACAAAGCCAAAGGAGAGGAAATTATTCACAAATACAACCTGCCACCAGACCTGCCCCAGTTCATCCAGGCTAAAGTTAATGCCTACAATATCAGTGAG
Seq A exon
GTGCGTGGGTGGACTCACGGGCTGATGCGTATGTCCAGACTTTACTAACACAGTCTCTAAGTTGTACTTAAATGACATTTTTCTTTCAG
Seq C2 exon
AATATGTACAAAGCAGACTTGAAAGACTTGAGCAAGAAGGGATATGACCTGAGAACTGATGCGATTCCCATCAGAGCTGCCAAAGCTGCCAGGCAGGCGGCGAGTGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-NEB:NM_001164508:31
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(59.3=45.7)
A:
NA
C2:
PF0088013=Nebulin=PD(33.3=25.0),PF0088013=Nebulin=PU(55.2=44.4)
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:
ACAAAGCCAAAGGAGAGGAAA
R:
CTTTGGCAGCTCTGATGGGAA
Band lengths:
183-272
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)