HsaINT0112129 @ hg38
Intron Retention
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151513580-151514428:-
Coord C1 exon
chr2:151514318-151514428
Coord A exon
chr2:151513694-151514317
Coord C2 exon
chr2:151513580-151513693
Length
624 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGC
5' ss Score
8.99
3' ss Seq
TTCTTTTAATGCTACTATAGAAA
3' ss Score
4.03
Exon sequences
Seq C1 exon
AAAGAGTACAGGAAAGATCTAGAGGAAAGCATCCGTGGGAAGGGCCTCACTGAAATGGAAGATACACCTGACATGCTAAGAGCAAAGAATGCCACTCAAATCCTCAATGAG
Seq A exon
GTAGGCCCACAGCTGACTGCCTGCACGTAATTCATACAGCATCATTTCTTTGTTAGCCAAATTACACCAGAAAAAGCAAAACAAAAACAGAGAACAGAGAAAAACAGAGCTTTTCATTTTCAGATTCCATATCAACATAATTGTTAACCATTACATAAAATATACCTCAATTTCTGATGAATGGATATTGTAACAGTGTGTTTCTGTAGTGGTTATCATAATCTATTATCTAATATTATTTGATTTAACTTGATATATTTGGTGTGCTCATCTACACGAAAACACTACACTGGAGTGGTGTGCACCTAAGTGTAATCTTAGTTATGTACCAAACTAGATGTACAATTTACTTTATACTCTAATCTTCTAAGCAGAGAATGCTAAAAGTATTCAAAAGGAGACCTCTGTTGACCCATACTGACTTGCATAGAATAGTTTCCTCCAGAGGGCTTCTGAAGACACCACTTCATCCTACCACACGGAAGAGCGAAGGTGAAGAGTAGCAAGCGACACTATCTGTGACAACTGGGGTGGCGTGTTATGTGGATTTACATTCACCCTGTATGTTTATTACCTAGTAGTAGCATTTAGGTACCTTTTTTTTTTCTTTTAATGCTACTATAG
Seq C2 exon
AAAGAATATAAGCGAGACCTGGAACTGGAAGTCAAAGGAAGAGGCCTGAATGCCATGGCCAATGAAACTCCGGATTTTATGAGGGCCAGGAATGCTACTGATATTGCCAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091:ENST00000409198:132
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.774 A=NA C2=0.390
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(35.7=27.0),PF0088013=Nebulin=PU(55.2=43.2)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=28.9),PF0088013=Nebulin=PU(55.2=42.1)
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:
AGAGTACAGGAAAGATCTAGAGGA
R:
TGACTGGCAATATCAGTAGCATTCC
Band lengths:
222-846
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