HsaINT0112128 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151514318-151514928:-
Coord C1 exon
chr2:151514818-151514928
Coord A exon
chr2:151514429-151514817
Coord C2 exon
chr2:151514318-151514428
Length
389 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGTG
5' ss Score
4.58
3' ss Seq
GCTTTTCTTTCATGATATAGAAA
3' ss Score
6.17
Exon sequences
Seq C1 exon
AAAGAATATAGGAAAGATTATGAAGAGTCCATTAAAGGCAGAAACCTGACTGGCCTGGAGGTCACGCCAGCTTTGTTACATGTCAAATATGCAACTAAAATAGCAAGCGAG
Seq A exon
GTAGTGCCCACTTGGTCTTTTCTTTCCCTCTTAATCCAAATAATTGCACTAGTGACACTCATTAATGTGTTCCTCCTACCATTTACATCACCACCTAACTGTGGGTTTCAAATTGGGTTCTCATGTGCTTGGTACTACCACCTAATCTATTACCCATGTTAATTCTTCTAATTTTTTATTTGAATATTACCTTAGCATTCTATTAACTTCAAGCTTTCATTTGATATTTAATGTTAACTGATCATGCTTATACCCTGCCTGTATTCATATTTTTACTTACTAAACTGTGAACCCTTTAAAAATTGGAATTGTTTTTTATTTTCTTCTTTGCCTGAGAGAATCAATCTGGGCTTTCTTGTCAATGTTGTTGCTTTTCTTTCATGATATAG
Seq C2 exon
AAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCCTCAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:131
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.243 A=NA C2=0.774
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=29.7),PF0088013=Nebulin=PU(57.1=43.2)
A:
NA
C2:
PF0088013=Nebulin=PD(35.7=27.0),PF0088013=Nebulin=PU(55.2=43.2)
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:
ATTATGAAGAGTCCATTAAAGGCAGA
R:
CTCATTGAGGATTTGAGTGGCA
Band lengths:
206-595
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