HsaINT0112153 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151489971-151490518:-
Coord C1 exon
chr2:151490372-151490518
Coord A exon
chr2:151490078-151490371
Coord C2 exon
chr2:151489971-151490077
Length
294 bp
Sequences
Splice sites
5' ss Seq
CAGGTACAA
5' ss Score
7.09
3' ss Seq
ATTTGCCCCCTTTTTTTCAGCTT
3' ss Score
9.37
Exon sequences
Seq C1 exon
TCCAAGCTCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCATCAGTGGGGGTGAGGAGAAGTCTGAGCATTCAGAAGCACCAGACCACCACCTTTCGACTTACAGCGACGGGGGTGTCTTTGCAGTCTCAACAG
Seq A exon
GTACAAGTGCCTGGCGCTGATTTTGGCAGTCCCACCCGGCCAGCTCATTGATGGTTACTATAAGAGATGCTTTGAGTACAAAAACAAATTTAAAAATTTTTCATCCTTTCCTTTAATGAGAAAAGACTAGAATTGTGGAGGGCTGCATGAAGTTAGATGTTTCATTTTCTTTGATTTCTCTTTTTGGAAATCATTCTAAGTTGGGGGAAAAAGACATCACTCAGCTGCTAAACACAGATTAAAGGATACCTAGCCATTTTTCTTCTTATAAAGAATTTGCCCCCTTTTTTTCAG
Seq C2 exon
CTTACAAACATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAACGGTATCTTCCATCCCATCTCATCCATCTACTGCTGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:148
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.786 A=NA C2=0.773
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
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCAGTCACGATCTGCCAG
R:
AGCAGTAGATGGATGAGATGGGA
Band lengths:
228-522
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