HsaINT0112125 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151518318-151519069:-
Coord C1 exon
chr2:151518965-151519069
Coord A exon
chr2:151518423-151518964
Coord C2 exon
chr2:151518318-151518422
Length
542 bp
Sequences
Splice sites
5' ss Seq
TCTGTAAGC
5' ss Score
4.33
3' ss Seq
TTTTGCCGCCTTCCCCTCAGTAC
3' ss Score
8.28
Exon sequences
Seq C1 exon
GTTAAATACAAGGCTGACCTGAAGAAACTTCACAAACCCGTGACTGACATGAAGGAGTCTCTGATCATGAATCATGTCCTGAATACAAGCCAACTTGCCAGTTCT
Seq A exon
GTAAGCTCAGTCATTTGCTCCAGAAACAGCTTGTTTTACCCATTTGGAACTAAATTCTTTCTGAGCCCAGATGCATCTTCTTCTCTGCTACTGATACCCTAGATTTATTACAAAACTGTTCTCATTTGAGTGTATTCTTCCAAATGACAACATTAATCTACCAATTCTCCATTGTCTGTAACACCTCTCAGAATGTAAAAATGCTTCTTTTTAAAAAATATTTAAACTTTGCCCTCCAATTAACCATTCCCTTTTCTCTAAGGACATAGAAATACCCTCTGGAATAGTTTCTTTCACTTTTAACTTTTTACTTATAACACCTACTTTGAACAAGCCACATAACCTAAGTGTTTACATCTTAACGGACAATACTGAACTTGGATCCTCATTTTTAAAACTTTTTCTTAACCTCCTGTTTAGTGTTTGCCATTTTTAGTTTGATCTTGACAATGGTGCTGTGTAAACGTCTAATCTAAAGAGGAAAAATAGGAATGCTGAGCAGCTTCTCCATCAATGTGCCTTTTTTGCCGCCTTCCCCTCAG
Seq C2 exon
TACCAGTACAAGAAGAAGTATGAGAAGAGTAAAGGCCACTACCACACCATACCCGATAATCTGGAGCAGCTTCACCTAAAAGAGGCCACAGAATTACAGAGTATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:128
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.157 A=NA C2=0.379
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(55.2=45.7)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGACCTGAAGAAACTTCACA
R:
ATACTCTGTAATTCTGTGGCCTCT
Band lengths:
198-740
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